View source for The genetic basis of heart disease

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{{WikiDoc Cardiology Network Infobox}}
{{CMG}}


==Overview==
The following is a '''list of [[genetic disorders]]''' and their origins. Besides, most disorders are a code that indicates the type of [[fertilization]] and the [[chromosome]] involved.

*P - [[Point mutation]], or any insertion/deletion entirely inside one [[gene]]
*D - [[Genetic deletion|Deletion]] of a gene or genes
*C - Whole chromosome extra, missing, or both - see [[Chromosome#Chromosomal aberrations|chromosomal aberrations]]
*T - [[Trinucleotide repeat disorders]] - gene is extended in length

==Common disorders==

{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|- 
| [[22q11.2 deletion syndrome]]
| D
| 22q
|-
| [[Angelman syndrome]]
| DCP
| 15
|- 
| [[Canavan disease]]
|
| 17p
|- 
| [[Celiac disease]]
|
|
|-
| [[Charcot-Marie-Tooth disease]]
|
|
|- 
| [[Color blindness]]
| P
| X
|- 
| [[Cri du Chat]]
| D
| 5
|-
| [[Cystic fibrosis]]
| P
| 7q
|- 
| [[Down syndrome]]
| C
| 21
|- 
| [[Duchenne muscular dystrophy]]
| D
| Xp
|- 
| [[Hemophilia]]
| P
| X
|- 
| [[Klinefelter syndrome]]
| C
| X
|- 
| [[Neurofibromatosis]]
|
| 17q/22q/?
|- 
| [[Phenylketonuria]]
| P
| 12q
|- 
| [[Prader-Willi syndrome]]
| DC
| 15
|- 
| [[Sickle-cell disease]]
| P
| 11p
|- 
| [[Spina bifida]]
| P
| 1
|- 
| [[Tay-Sachs disease]]
| P
| 15
|- 
| [[Turner syndrome]]
| C
| X
|}

== 0–9 ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| 18p deletion syndrome
| D
| 18p
|-
| [[21-hydroxylase deficiency]]
|
| 6p21.3
|-
| [[45,X]] <br><small>''see'' [[Turner syndrome]] </small>
| C
| X
|-
| [[47,XX,+21]] <br><small>''see'' [[Down syndrome]] </small>
| C
| 21
|-
| [[47,XXX]] <br><small>''see'' [[triple X syndrome]] </small>
| C
| X
|-
| [[47,XXY]] <br><small>''see'' [[Klinefelter syndrome]] </small>
| C
| X
|-
| [[47,XY,+21]] <br><small>''see'' [[Down syndrome]] </small>
| C
| 21
|-
| [[47,XYY syndrome]]
| C
| Y
|-
| 5-ALA dehydratase-deficient porphyria <br><small>''see'' [[ALA dehydratase deficiency]] </small>
|
|
|-
| 5-aminolaevulinic dehydratase deficiency porphyria <br><small>''see'' [[ALA dehydratase deficiency]] </small>
|
|
|-
| 5p deletion syndrome <br><small>''see'' [[Cri du chat]] </small>
| D
| 5p
|-
| 5p- syndrome <br><small>''see'' [[Cri du chat]] </small>
| D
| 5p
|}

== A ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[A-T]] <br><small>''see'' [[ataxia-telangiectasia]] </small>
|
|
|-
| [[AAT]] <br><small>''see'' [[alpha-1 antitrypsin deficiency]] </small>
|
|
|-
| [[Absence of vas deferens]] <br><small>''see'' [[congenital bilateral absence of vas deferens]] </small>
|
|
|-
| [[Absent vasa]] <br><small>''see'' [[congenital bilateral absence of vas deferens]] </small>
|
|
|-
| [[aceruloplasminemia]]
|
|
|-
| [[ACG2]] <br><small>''see'' [[achondrogenesis type II]] </small>
|
|
|-
| [[Achondroplasia|ACH]] <br><small>''see'' [[achondroplasia]] </small>
|
|
|-
| [[Achondrogenesis type II]]
|
|
|-
| [[achondroplasia]]
| substitution
| 4p16.3
|-
| [[Acid beta-glucosidase deficiency]] <br><small>''see'' [[Gaucher disease type 1]] </small>
|
|
|-
| [[Acrocephalosyndactyly (Apert)]] <br><small>''see'' [[Apert syndrome]] </small>
|
|
|-
| [[acrocephalosyndactyly, type V]] <br><small>''see'' [[Pfeiffer syndrome]] </small>
|
|
|-
| [[Acrocephaly]] <br><small>''see'' [[Apert syndrome]] </small>
|
|
|-
| [[Acute cerebral Gaucher's disease]] <br><small>''see'' [[Gaucher disease type 2]] </small>
|
|
|-
| [[acute intermittent porphyria]]
|
|
|-
| [[ACY2 deficiency]] <br><small>''see'' [[Canavan disease]] </small>
|
|
|-
| [[Alzheimer's disease|AD]]
|
|
|-
| Adelaide-type craniosynostosis <br><small>''see'' [[Muenke syndrome]] </small>
|
|
|-
| [[Adenomatous Polyposis Coli]] <br><small>''see'' [[familial adenomatous polyposis]] </small>
|
|
|-
| [[Adenomatous Polyposis of the Colon]] <br><small>''see'' [[familial adenomatous polyposis]] </small>
|
|
|-
| [[ALAD deficiency porphyria|ADP]] <br><small>''see'' [[ALA dehydratase deficiency]] </small>
|
|
|-
| [[adenylosuccinate lyase deficiency]] 
|
|
|-
| [[Adrenal gland disorders]] <br><small>''see'' [[21-hydroxylase deficiency]] </small>
|
|
|-
| [[Adrenogenital syndrome]] <br><small>''see'' [[21-hydroxylase deficiency]] </small>
|
|
|-
| [[Adrenoleukodystrophy]]
|
|
|-
| [[acute intermittent porphyria|AIP]] <br><small>''see'' [[acute intermittent porphyria]] </small>
|
|
|-
| [[androgen insensitivity syndrome|AIS]] <br><small>''see'' [[androgen insensitivity syndrome]] </small>
|
|
|-
| [[alkaptonuria|AKU]] <br><small>''see'' [[alkaptonuria]] </small>
|
|
|-
| ALA dehydratase porphyria <br><small>''see'' [[ALA dehydratase deficiency]] </small>
|
|
|-
| ALA-D porphyria <br><small>''see'' [[ALA dehydratase deficiency]] </small>
|
|
|-
| [[ALA dehydratase deficiency]]
|
|
|-
| [[Alcaptonuria]] <br><small>''see'' [[alkaptonuria]] </small>
|
|
|-
| [[Alexander disease]]
|
|
|-
| [[alkaptonuria]]
|
|
|-
| [[Alkaptonuric ochronosis]] <br><small>''see'' [[alkaptonuria]] </small>
|
|
|-
| [[alpha-1 antitrypsin deficiency]]
|
|14q32.1
|-
| [[alpha-1 proteinase inhibitor]] <br><small>''see'' [[alpha-1 antitrypsin deficiency]] </small>
|
|14q32.1
|-
| [[alpha-1 related emphysema]] <br><small>''see'' [[alpha-1 antitrypsin deficiency]] </small>
|
|14q32.1
|-
| [[Alpha-galactosidase A deficiency]] <br><small>''see'' [[Fabry disease]] </small>
|P
|Xq22.1
|-
| [[amyotrophic lateral sclerosis|ALS]] <br><small>''see'' [[amyotrophic lateral sclerosis]] </small>
|
|
|-
| [[Alstrom syndrome]]
|
|
|-
| [[ALX]] <br><small>''see'' [[Alexander disease]] </small>
|
|
|-
| [[Alzheimer disease]]
|
|
|-
| [[Alzheimer's disease]] <br><small>''see'' [[Alzheimer disease]] </small>
|
|
|-
| [[Amelogenesis Imperfecta]] <br><small>''see'' [[Amelogenesis imperfecta]] </small>
|
|
|-
| Amino levulinic acid dehydratase deficiency <br><small>''see'' [[ALA dehydratase deficiency]] </small>
|
|
|-
| [[Aminoacylase 2 deficiency]] <br><small>''see'' [[Canavan disease]] </small>
|
|
|-
| [[amyotrophic lateral sclerosis]]
|
|
|-
| [[Anderson-Fabry disease]] <br><small>''see'' [[Fabry disease]] </small>
|P
|Xq22.1
|-
| [[androgen insensitivity syndrome]]
|
|
|-
| [[Anemia]]
|
|
|-
| [[Anemia, hereditary sideroblastic]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small>
|
|X
|-
| [[Anemia, sex-linked hypochromic sideroblastic]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small>
|
|X
|-
| [[Anemia, splenic, familial]] <br><small>''see'' [[Gaucher disease]] </small>
|
|
|-
| [[Angelman syndrome]]
|
|
|-
| [[Angiokeratoma Corporis Diffusum]] <br><small>''see'' [[Fabry's disease]] </small>
|P
|Xq22.1
|-
| [[Angiokeratoma diffuse]] <br><small>''see'' [[Fabry's disease]] </small>
|
|
|-
| [[Angiomatosis retinae]] <br><small>''see'' [[von Hippel-Lindau disease]] </small>
|
|
|-
| [[ANH1]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small>
|
|X
|-
| [[APC resistance, Leiden type]] <br><small>''see'' [[factor V Leiden thrombophilia]] </small>
|
|
|-
| [[Apert syndrome]]
|
|
|-
| [[AR deficiency]] <br><small>''see'' [[androgen insensitivity syndrome]] </small>
|
|
|-
| [[AR-CMT2]] <br><small>''see'' [[Charcot-Marie-Tooth disease, type 2]] </small>
|
|
|-
| [[Arachnodactyly]] <br><small>''see'' [[Marfan syndrome]] </small>
|
|
|-
| ARNSHL <br><small>''see'' [[Nonsyndromic deafness#autosomal recessive]] </small>
|
|
|-
| Arthro-ophthalmopathy, hereditary progressive <br><small>''see'' [[Stickler syndrome#COL2A1]] </small>
|
|
|-
| Arthrochalasis multiplex congenita <br><small>''see'' [[Ehlers-Danlos syndrome#arthrochalasia type]] </small>
|
|
|-
| [[AS]] <br><small>''see'' [[Angelman syndrome]] </small>
|
|
|-
| [[Asp deficiency]] <br><small>''see'' [[Canavan disease]] </small>
|
|
|-
| [[Aspa deficiency]] <br><small>''see'' [[Canavan disease]] </small>
|
|
|-
| [[Aspartoacylase deficiency]] <br><small>''see'' [[Canavan disease]] </small>
|
|
|-
| [[ataxia-telangiectasia]]
|
|
|-
| [[Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome]] <br><small>''see'' [[Rett syndrome]] </small>
|
|
|-
| autosomal dominant juvenile ALS <br><small>''see'' amyotrophic lateral sclerosis, type 4 </small>
|
|
|-
| [[Autosomal dominant opitz G/BBB syndrome]] <br><small>''see'' [[22q11.2 deletion syndrome]] </small>
| D
| 22q
|-
| autosomal recessive form of juvenile ALS type 3 <br><small>''see'' [[Amyotrophic lateral sclerosis#type 2]] </small>
|
|
|-
| Autosomal recessive nonsyndromic hearing loss <br><small>''see'' [[Nonsyndromic deafness#autosomal recessive]] </small>
|
|
|-
| [[Autosomal Recessive Sensorineural Hearing Impairment and Goiter]] <br><small>''see'' [[Pendred syndrome]] </small>
|
|
|-
| [[AxD]] <br><small>''see'' [[Alexander disease]] </small>
|
|
|-
| [[Ayerza syndrome]] <br><small>''see'' [[primary pulmonary hypertension]] </small>
|
|
|}

== B ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[B variant of the Hexosaminidase GM2 gangliosidosis]] <br><small>''see'' [[Sandhoff disease]] </small>
|
|
|-
| [[BANF]] <br><small>''see'' [[neurofibromatosis 2]] </small>
|
|
|-
| Beare-Stevenson cutis gyrata syndrome
|
|
|-
| [[Benign paroxysmal peritonitis]] <br><small>''see'' [[Mediterranean fever, familial]] </small>
|
|
|-
| [[Benjamin syndrome]]
|
|
|-
| [[beta thalassemia]]
|
|
|-
| [[BH4 Deficiency]] <br><small>''see'' [[tetrahydrobiopterin deficiency]] </small>
|
|
|-
| Bilateral Acoustic Neurofibromatosis <br><small>''see'' [[neurofibromatosis 2]] </small>
|
|
|-
| [[biotinidase deficiency]]
|
|
|-
| [[bladder cancer]]
|
|
|-
| [[Bleeding disorders]] <br><small>''see'' [[factor V Leiden thrombophilia]] </small>
|
|
|-
| [[Bloch-Sulzberger syndrome]] <br><small>''see'' [[incontinentia pigmenti]] </small>
|
|
|-
| [[Bone diseases]]
|
|
|-
| [[Bone marrow diseases]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small>
|
|
|-
| [[Bonnevie-Ullrich syndrome]] <br><small>''see'' [[Turner syndrome]] </small>
|
|
|-
| [[Bourneville disease]] <br><small>''see'' [[tuberous sclerosis]] </small>
|
|
|-
| [[Bourneville phakomatosis]] <br><small>''see'' [[tuberous sclerosis]] </small>
|
|
|-
| [[Brain diseases]] <br><small>''see'' [[prion disease]] </small>
|
|
|-
| [[breast cancer]]
|
|
|-
|[[Birt-Hogg-Dubé syndrome]]
|
|17
|-
| [[Brittle bone disease]] <br><small>''see'' [[osteogenesis imperfecta]] </small>
|
|
|-
| [[Broad Thumb-Hallux syndrome]] <br><small>''see'' [[Rubinstein-Taybi syndrome]] </small>
|
|
|-
| [[Bronze Diabetes]] <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| [[Bronzed cirrhosis]] <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| [[X-linked spinal-bulbar muscle atrophy|Bulbospinal muscular atrophy, X-linked]] <br><small>''see'' [[Kennedy disease]] </small>
|
|
|-
| Burger-Grutz syndrome <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small>
|
|
|}

== C ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[CADASIL]]
|P
|3
|-
| [[Canavan disease]]
|
|
|-
| [[Cancer]]
|
|
|-
| [[Cancer Family syndrome]] <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small>
|
|
|-
| [[Cancer of breast]] <br><small>''see'' [[breast cancer]] </small>
|
|
|-
| [[Cancer of the bladder]] <br><small>''see'' [[bladder cancer]] </small>
|
|
|-
| [[Carboxylase Deficiency, Multiple, Late-Onset]] <br><small>''see'' [[biotinidase deficiency]] </small>
|P
|3
|-
| [[Cardiomyopathy]] <br><small>''see'' [[Noonan syndrome]] </small>
|
|
|-
| Cat cry syndrome <br><small>''see'' [[Cri du chat]] </small>
|
|
|-
| [[CAVD]] <br><small>''see'' [[congenital bilateral absence of vas deferens]] </small>
|
|
|-
| [[Caylor cardiofacial syndrome]] <br><small>''see'' [[22q11.2 deletion syndrome]] </small>
| D
| 22q
|-
| [[CBAVD]] <br><small>''see'' [[congenital bilateral absence of vas deferens]] </small>
|
|
|-
| [[Celiac Disease]] 
|
|
|-

| [[CEP]] <br><small>''see'' [[congenital erythropoietic porphyria]] </small>
|
|
|-
| [[Ceramide trihexosidase deficiency]] <br><small>''see'' [[Fabry disease]] </small>
|
|X
|-
| [[Cerebelloretinal Angiomatosis, familial]] <br><small>''see'' [[von Hippel-Lindau disease]] </small>
|P
|3 (p26-p25)
|-
| [[Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy]] <br><small>''see'' [[CADASIL]] </small>
|P
|3
|-
| [[Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy]] <br><small>''see'' [[CADASIL]] </small>
|P
|3
|-
| Cerebral sclerosis <br><small>''see'' [[tuberous sclerosis]] </small>
|
|9 (q34), 16 (p13.3)
|-
| [[Cerebroatrophic Hyperammonemia]] <br><small>''see'' [[Rett syndrome]] </small>
|
|X
|-
| [[Cerebroside Lipidosis syndrome]] <br><small>''see'' [[Gaucher disease]] </small>
|P
|1(q21)
|-
| [[CF]] <br><small>''see'' [[cystic fibrosis]] </small>
| D (most common); or substitution
| CFTR (7q31.2)
|-
| [[CH]] <br><small>''see'' [[congenital hypothyroidism]] </small>
|
|
|-
| [[Charcot disease]] <br><small>''see'' [[amyotrophic lateral sclerosis]] </small>
|
|
|-
| [[Charcot-Marie-Tooth disease]]
|
|
|-
| [[Chondrodystrophia]] <br><small>''see'' [[achondroplasia]] </small>
|
|
|-
| [[Chondrodystrophy syndrome]] <br><small>''see'' [[achondroplasia]] </small>
|
|
|-
| [[Chondrodystrophy with sensorineural deafness]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small>
|
|
|-
| [[Chondrogenesis imperfecta]] <br><small>''see'' [[achondrogenesis, type II]] </small>
|
|
|-
| [[Choreoathetosis self-mutilation hyperuricemia syndrome]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small>
|P
|X
|-
| [[Classic Galactosemia]] <br><small>''see'' [[galactosemia]] </small>
|P
|9 (p13)
|-
| Classical Ehlers-Danlos syndrome <br><small>''see'' [[Ehlers-Danlos syndrome#classical type]] </small>
|
|
|-
| [[Classical Phenylketonuria]] <br><small>''see'' [[phenylketonuria]] </small>
|
|
|-
| [[Cleft lip and palate]] <br><small>''see'' [[Stickler syndrome]] </small>
|
|
|-
| Cloverleaf skull with thanatophoric dwarfism <br><small>''see'' [[Thanatophoric dysplasia#type 2]] </small>
|
|
|-
| CLS <br><small>''see'' [[Coffin-Lowry syndrome]] </small>
|
|
|-
| [[Charcot-Marie-Tooth disease|CMT]] <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small>
|
|
|-
| [[Cockayne syndrome]]
|
|
|-
| [[Coffin-Lowry syndrome]]
|
|
|-
| [[collagenopathy, types II and XI]]
|
|
|-
| [[Colon Cancer, familial Nonpolyposis]] <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small>
|
|
|-
| [[Colon cancer, familial]] <br><small>''see'' [[familial adenomatous polyposis]] </small>
|
|
|-
| [[Colorectal Cancer]]
|
|
|-
| [[Complete HPRT deficiency]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small>
|
|
|-
| [[Complete hypoxanthine-guanine phosphoribosyltransferase deficiency]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small>
|
|
|-
| Compression neuropathy <br><small>''see'' hereditary neuropathy with liability to pressure palsies </small>
|
|
|-
| [[Congenital adrenal hyperplasia]] <br><small>''see'' [[21-hydroxylase deficiency]] </small>
|
|
|-
| [[Congenital absence of the vas deferens|congenital bilateral absence of vas deferens]]
|
|
|-
| [[Congenital erythropoietic porphyria]]
|
|
|-
| [[Congenital heart disease]]
|
|
|-
| Congenital hypomyelination <br><small>''see'' [[Charcot-Marie-Tooth disease#Type 1]]</small> <br><small>''see'' [[Charcot-Marie-Tooth disease#Type 4]] </small>
|
|
|-
| [[Congenital hypothyroidism]]
|
|
|-
| [[Methemoglobinemia#Congenital methaemoglobinaemia|Congenital methemoglobinemia]] 
|
|
|-
| [[Congenital osteosclerosis]] <br><small>''see'' [[achondroplasia]] </small>
|
|
|-
| [[Congenital sideroblastic anaemia]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small>
|
|X
|-
| [[Connective tissue disease]]
|
|
|-
| [[Conotruncal anomaly face syndrome]] <br><small>''see'' [[22q11.2 deletion syndrome]] </small>
| D
| 22q
|-
| [[Cooley's Anemia]] <br><small>''see'' [[beta thalassemia]] </small>
|
|
|-
| [[Copper storage disease]] <br><small>''see'' [[Wilson disease]] </small>
|
|13 (q14.3)
|-
| [[Copper transport disease]] <br><small>''see'' [[Menkes disease|Menkes syndrome]] </small>
|
|
|-
| [[Coproporphyria, hereditary]] <br><small>''see'' [[hereditary coproporphyria]] </small>
|
|
|-
| [[Coproporphyrinogen oxidase deficiency]] <br><small>''see'' [[hereditary coproporphyria]] </small>
|
|
|-
| [[Cowden syndrome]]
|
|
|-
| [[CPO deficiency]] <br><small>''see'' [[hereditary coproporphyria]] </small>
|
|
|-
| [[CPRO deficiency]] <br><small>''see'' [[hereditary coproporphyria]] </small>
|
|
|-
| [[CPX deficiency]] <br><small>''see'' [[hereditary coproporphyria]] </small>
|
|
|-
| [[Craniofacial dysarthrosis]] <br><small>''see'' [[Crouzon syndrome]] </small>
|
|
|-
| [[Craniofacial Dysostosis]] <br><small>''see'' [[Crouzon syndrome]] </small>
|
|
|-
| [[Cretinism]] <br><small>''see'' [[congenital hypothyroidism]] </small>
|
|
|-
| [[Creutzfeldt-Jakob disease]] <br><small>''see'' [[prion disease]] </small>
|
|
|-
| [[Cri du chat]]
| D
| 5p
|-
| [[Crohn's disease]], fibrostenosing 
| P
| 16q12
|-
| [[Crouzon syndrome]]
|
| FGFR2 (10q25.3-q26)
|-
| [[Crouzon syndrome with acanthosis nigricans]] <br><small>''see'' [[Crouzonodermoskeletal syndrome]] </small>
|
|
|-
| [[Crouzonodermoskeletal syndrome]]
|
|
|-
| CS <br><small>''see'' [[Cockayne syndrome]]<br>''see'' [[Cowden syndrome]] </small>
|
|
|-
| [[Curschmann-Batten-Steinert syndrome]] <br><small>''see'' [[myotonic dystrophy]] </small>
|
|
|-
| cutis gyrata syndrome of Beare-Stevenson <br><small>''see'' Beare-Stevenson cutis gyrata syndrome </small>
|
|
|}

== D ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| D-glycerate dehydrogenase deficiency <br><small>''see'' [[hyperoxaluria, primary]] </small>
|
|
|-
| [[Dappled metaphysis syndrome]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small>
|
|
|-
| [[DAT - Dementia Alzheimer's type]] <br><small>''see'' [[Alzheimer disease]] </small>
|
|
|-
| DBMD <br><small>''see'' muscular dystrophy, Duchenne and Becker types </small>
|
|
|-
| [[Deafness with goiter]] <br><small>''see'' [[Pendred syndrome]] </small>
|
|
|-
| [[Deafness-retinitis pigmentosa syndrome]] <br><small>''see'' [[Usher syndrome]] </small>
|
|
|-
| [[Deficiency disease, Phenylalanine Hydroxylase]] <br><small>''see'' [[phenylketonuria]] </small>
| P
| 12q
|- 
| Degenerative nerve diseases
|
|
|-
| [[De Grouchy Syndrome|de Grouchy syndrome 1]] <br><small>''see'' [[De Grouchy Syndrome|18p deletion syndrome]] </small>
| D
| 18p
|-
| [[Dejerine-Sottas syndrome]] <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small>
|
|
|-
| Delta-aminolevulinate dehydratase deficiency porphyria <br><small>''see'' [[ALA dehydratase deficiency]] </small>
|
|
|-
| [[Dementia]] <br><small>''see'' [[CADASIL]] </small>
|
|
|-
| [[demyelinogenic leukodystrophy]] <br><small>''see'' [[Alexander disease]] </small>
|
|
|-
| Dermatosparactic type of Ehlers-Danlos syndrome <br><small>''see'' [[Ehlers-Danlos syndrome#dermatosparaxis type]] </small>
|
|
|-
| Dermatosparaxis <br><small>''see'' [[Ehlers-Danlos syndrome#dermatosparaxis type]] </small>
|
|
|-
| [[developmental disabilities|Developmental Disabilities]]
|
|
|-
| dHMN <br><small>''see'' [[Amyotrophic lateral sclerosis#type 4]] </small>
|
|
|-
| DHMN-V <br><small>''see'' distal spinal muscular atrophy, type V </small>
|
|
|-
| [[DHTR deficiency]] <br><small>''see'' [[androgen insensitivity syndrome]] </small>
|
|X
|-
| [[Diffuse Globoid Body Sclerosis]] <br><small>''see'' [[Krabbe disease]] </small>
|
|
|-
| [[DiGeorge syndrome]]
| D
| 22q
|-
| [[Dihydrotestosterone receptor deficiency]] <br><small>''see'' [[androgen insensitivity syndrome]] </small>
|
|X
|-
| distal spinal muscular atrophy, type V
|
|
|-
| DM1 <br><small>''see'' [[Myotonic dystrophy#type 1]] </small>
|T
|19
|-
| DM2 <br><small>''see'' [[Myotonic dystrophy#type 2]] </small>
|T
|3
|-
| [[Down syndrome]]
|
|
|-
| DSMAV <br><small>''see'' distal spinal muscular atrophy, type V </small>
|
|
|-
| [[DSN]] <br><small>''see'' [[Charcot-Marie-Tooth disease#type 4]] </small>
|
|
|-
| DSS <br><small>''see'' [[Charcot-Marie-Tooth disease, type 4]] </small>
|
|
|-
| Duchenne/Becker muscular dystrophy <br><small>''see'' muscular dystrophy, Duchenne and Becker types </small>
|
|
|-
| [[Dwarf, achondroplastic]] <br><small>''see'' [[achondroplasia]] </small>
|
|3
|-
| [[Dwarf, thanatophoric]] <br><small>''see'' [[thanatophoric dysplasia]] </small>
|
|
|-
| [[Dwarfism]]
|
|
|-
| [[Dwarfism-retinal atrophy-deafness syndrome]] <br><small>''see'' [[Cockayne syndrome]] </small>
|
|
|-
| [[dysmyelinogenic leukodystrophy]] <br><small>''see'' [[Alexander disease]] </small>
|
|
|-
| [[Dystrophia myotonica]] <br><small>''see'' [[myotonic dystrophy]] </small>
|T
|19
|-
| [[dystrophia retinae pigmentosa-dysostosis syndrome]] <br><small>''see'' [[Usher syndrome]] </small>
|
|
|}

== E ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| Early-Onset familial alzheimer disease (EOFAD) <br><small>''see'' [[Alzheimer disease#type 1]]</small> <br><small>''see'' [[Alzheimer disease#type 3]]</small> <br><small>''see'' [[Alzheimer disease#type 4]] </small>
|
|
|-
| [[EDS]] <br><small>''see'' [[Ehlers-Danlos syndrome]] </small>
|
|
|-
| [[Ehlers-Danlos syndrome]]
|
|
|-
| [[Ekman-Lobstein disease]] <br><small>''see'' [[osteogenesis imperfecta]] </small>
|
|
|-
| Entrapment neuropathy <br><small>''see'' hereditary neuropathy with liability to pressure palsies </small>
|
|
|-
| Epiloia <br><small>''see'' [[tuberous sclerosis]] </small>
|
|
|-
| [[EPP]] <br><small>''see'' [[erythropoietic protoporphyria]] </small>
|
|
|-
| [[Erythroblastic anemia]] <br><small>''see'' [[beta thalassemia]] </small>
|
|
|-
| [[Erythrohepatic protoporphyria]] <br><small>''see'' [[erythropoietic protoporphyria]] </small>
|
|
|-
| [[Erythroid 5-aminolevulinate synthetase deficiency]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small>
|
|
|-
| [[Erythropoietic porphyria]] <br><small>''see'' [[congenital erythropoietic porphyria]] </small>
|
|
|-
| [[erythropoietic protoporphyria]]
|
|
|-
| [[Erythropoietic uroporphyria]] <br><small>''see'' [[congenital erythropoietic porphyria]] </small>
|
|
|-
| [[Eye cancer]] <br><small>''see'' retinoblastoma FA - Friedreich ataxia</small> <br><small>''see'' [[Friedreich ataxia]] </small>
|
|
|}

== F ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[Fabry disease]]
|P
|Xq22.1
|-
| Facial injuries and disorders
|
|
|-
| [[factor V Leiden thrombophilia]]
|
|
|-
| [[FALS]] <br><small>''see'' [[amyotrophic lateral sclerosis]] </small>
|
|
|-
| [[familial acoustic neuroma]] <br><small>''see'' [[neurofibromatosis type II]] </small>
|
|
|-
| [[familial adenomatous polyposis]]
|
|
|-
| familial Alzheimer disease (FAD) <br><small>''see'' [[Alzheimer disease]] </small>
|
|
|-
| [[familial amyotrophic lateral sclerosis]] <br><small>''see'' [[amyotrophic lateral sclerosis]] </small>
|
|
|-
| [[familial dysautonomia]]
|
|
|-
| familial fat-induced hypertriglyceridemia <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small>
|
|
|-
| [[familial hemochromatosis]] <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| familial LPL deficiency <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small>
|
|
|-
| [[familial nonpolyposis colon cancer]] <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small>
|
|
|-
| [[familial paroxysmal polyserositis]] <br><small>''see'' [[Mediterranean fever, familial]] </small>
|
|
|-
| [[familial PCT]] <br><small>''see'' [[porphyria cutanea tarda]] </small>
|
|
|-
| familial pressure sensitive neuropathy <br><small>''see'' hereditary neuropathy with liability to pressure palsies </small>
|
|
|-
| familial primary pulmonary hypertension (FPPH) <br><small>''see'' [[primary pulmonary hypertension]] </small>
|
|
|-
| Familial Turner syndrome <br><small>''see'' [[Noonan syndrome]] </small>
|
|
|-
| familial vascular leukoencephalopathy <br><small>''see'' [[CADASIL]] </small>
|
|
|-
| [[FAP]] <br><small>''see'' [[familial adenomatous polyposis]] </small>
|
|
|-
| [[FD]] <br><small>''see'' [[familial dysautonomia]] </small>
|
|
|-
| [[Female pseudo-Turner syndrome]] <br><small>''see'' [[Noonan syndrome]] </small>
|
|
|-
| [[Ferrochelatase deficiency]] <br><small>''see'' [[erythropoietic protoporphyria]] </small>
|
|
|-
| ferroportin disease <br><small>''see'' [[Haemochromatosis#type 4]] </small>
|
|
|-
| [[Fever]] <br><small>''see'' [[Mediterranean fever, familial]] </small>
|
|
|-
| FGFR3-associated coronal synostosis <br><small>''see'' [[Muenke syndrome]] </small>
|
|
|-
| [[Fibrinoid degeneration of astrocytes]] <br><small>''see'' [[Alexander disease]] </small>
|
|
|-
| Fibrocystic disease of the pancreas <br><small>''see'' [[cystic fibrosis]] </small>
|
|
|-
| [[FMF]] <br><small>''see'' [[Mediterranean fever, familial]] </small>
|
|
|-
| [[Folling disease]] <br><small>''see'' [[phenylketonuria]] </small>
|
|
|-
| [[fra(X) syndrome]] <br><small>''see'' [[fragile X syndrome]] </small>
|
| Xq27.3
|-
| [[fragile X syndrome]]
|
| Xq27.3
|-
| Fragilitas ossium <br><small>''see'' [[osteogenesis imperfecta]] </small>
|
|
|-
| [[FRAXA syndrome]] <br><small>''see'' [[fragile X syndrome]] </small>
|
| Xq27.3
|-
| FRDA <br><small>''see'' [[Friedreich ataxia]] </small>
|
|
|-
| [[Friedreich's ataxia|Friedreich ataxia]]
|
|
|-
| [[FXS]] <br><small>''see'' [[fragile X syndrome]] </small>
|
| Xq27.3
|}

== G ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[G6PD deficiency]] <br>
|
|
|-
| Galactokinase deficiency disease <br><small>''see'' [[galactosemia]] </small>
|
|
|-
| Galactose-1-phosphate uridyl-transferase deficiency disease <br><small>''see'' [[galactosemia]] </small>
|
|
|-
| [[galactosemia]]
|
|
|-
| Galactosylceramidase deficiency disease <br><small>''see'' [[Krabbe disease]] </small>
|
|
|-
| Galactosylceramide lipidosis <br><small>''see'' [[Krabbe disease]] </small>
|
|
|-
| galactosylcerebrosidase deficiency <br><small>''see'' [[Krabbe disease]] </small>
|
|
|-
| galactosylsphingosine lipidosis <br><small>''see'' [[Krabbe disease]] </small>
|
|
|-
| GALC deficiency <br><small>''see'' [[Krabbe disease]] </small>
|
|
|-
| GALT deficiency <br><small>''see'' [[galactosemia]] </small>
|
|
|-
| [[Gaucher disease]]
|
|
|-
| Gaucher-like disease <br><small>''see'' pseudo-Gaucher disease </small>
|
|
|-
| GBA deficiency <br><small>''see'' [[Gaucher disease type 1]] </small>
|
|
|-
| [[Gaucher's disease|GD]] <br><small>''see'' [[Gaucher's disease]] </small>
|
|
|-
| Genetic brain disorders
|
|
|-
| genetic emphysema <br><small>''see'' [[alpha-1 antitrypsin deficiency]] </small>
|
|
|-
| genetic hemochromatosis <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| Giant cell hepatitis, neonatal <br><small>''see'' [[Neonatal hemochromatosis]] </small>
|
|
|-
| GLA deficiency <br><small>''see'' [[Fabry disease]] </small>
|
|
|-
| Glioblastoma, retinal <br><small>''see'' [[retinoblastoma]] </small>
|
|
|-
| Glioma, retinal <br><small>''see'' [[retinoblastoma]] </small>
|
|
|-
| globoid cell leukodystrophy (GCL, GLD) <br><small>''see'' [[Krabbe disease]] </small>
|
|
|-
| globoid cell leukoencephalopathy <br><small>''see'' [[Krabbe disease]] </small>
|
|
|-
| Glucocerebrosidase deficiency <br><small>''see'' [[Gaucher disease]] </small>
|
|
|-
| Glucocerebrosidosis <br><small>''see'' [[Gaucher disease]] </small>
|
|
|-
| Glucosyl cerebroside lipidosis <br><small>''see'' [[Gaucher disease]] </small>
|
|
|-
| Glucosylceramidase deficiency <br><small>''see'' [[Gaucher disease]] </small>
|
|
|-
| Glucosylceramide beta-glucosidase deficiency <br><small>''see'' [[Gaucher disease]] </small>
|
|
|-
| Glucosylceramide lipidosis <br><small>''see'' [[Gaucher disease]] </small>
|
|
|-
| Glyceric aciduria <br><small>''see'' [[hyperoxaluria, primary]] </small>
|
|
|-
| [[Glycine encephalopathy]] <br><small>''see'' [[Nonketotic hyperglycinemia]] </small>
|
|
|-
| Glycolic aciduria <br><small>''see'' [[hyperoxaluria, primary]] </small>
|
|
|-
| GM2 gangliosidosis, type 1 <br><small>''see'' [[Tay-Sachs disease]] </small>
|
|
|-
| Goiter-deafness syndrome <br><small>''see'' [[Pendred syndrome]] </small>
|
|
|-
| Graefe-Usher syndrome <br><small>''see'' [[Usher syndrome]] </small>
|
|
|-
| Gronblad-Strandberg syndrome <br><small>''see'' [[pseudoxanthoma elasticum]] </small>
|
|
|-
| Guenther porphyria <br><small>''see'' [[congenital erythropoietic porphyria]] </small>
|
|
|-
| Gunther disease <br><small>''see'' [[congenital erythropoietic porphyria]] </small>
|
|
|}

{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[Haemochromatosis]] <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| Hallgren syndrome <br><small>''see'' [[Usher syndrome]] </small>
|
|
|-
| Hb S disease <br><small>''see'' [[sickle cell anemia]] </small>
|
|
|-
| [[HCH]] <br><small>''see'' [[hypochondroplasia]] </small>
|
|
|-
| [[HCP]] <br><small>''see'' [[hereditary coproporphyria]] </small>
|
|
|-
| Head and brain malformations
|
|
|-
| Hearing disorders and deafness
|
|
|-
| Hearing problems in children
|
|
|-
| HEF2A <br><small>''see'' [[hemochromatosis#type 2]] </small>
|
|
|-
| HEF2B <br><small>''see'' [[hemochromatosis#type 2]] </small>
|
|
|-
| Hematoporphyria <br><small>''see'' [[porphyria]] </small>
|
|
|-
| Heme synthetase deficiency <br><small>''see'' [[erythropoietic protoporphyria]] </small>
|
|
|-
| Hemochromatoses <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| [[hemochromatosis]]
|
|
|-
| hemoglobin M disease <br><small>''see'' [[methemoglobinemia#beta-globin type]] </small>
|
|
|-
| Hemoglobin S disease <br><small>''see'' [[sickle cell anemia]] </small>
|
|
|-
| [[hemophilia]]
|
|
|-
| [[HEP]] <br><small>''see'' [[hepatoerythropoietic porphyria]] </small>
|
|
|-
| hepatic AGT deficiency <br><small>''see'' [[hyperoxaluria, primary]] </small>
|
|
|-
| [[hepatoerythropoietic porphyria]]
|
|
|-
| Hepatolenticular degeneration syndrome <br><small>''see'' [[Wilson disease]] </small>
|
|
|-
| Hereditary arthro-ophthalmopathy <br><small>''see'' [[Stickler syndrome]] </small>
|
|
|-
| [[Hereditary coproporphyria]]
|
|
|-
| Hereditary dystopic lipidosis <br><small>''see'' [[Fabry disease]] </small>
|
|
|-
| Hereditary hemochromatosis (HHC) <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| Hereditary iron-loading anemia <br><small>''see'' [[X-linked sideroblastic anemia]] </small>
|
|
|-
| Hereditary motor and sensory neuropathy <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small>
|
|
|-
| Hereditary motor neuronopathy <br><small>''see'' [[spinal muscular atrophy]] </small>
|
|
|-
| Hereditary motor neuronopathy, type V <br><small>''see'' distal spinal muscular atrophy, type V </small>
|
|
|-
| [[Hereditary Multiple Exostoses]]
|
|-
| [[Hereditary nonpolyposis colorectal cancer]]
|DNA mismatch repair dysfunction usually in MSH2 and MLH1 genes
|usually chromosomes 2 and 3
|-
| Hereditary periodic fever syndrome <br><small>''see'' [[Mediterranean fever, familial]] </small>
|
|
|-
| Hereditary Polyposis Coli <br><small>''see'' [[familial adenomatous polyposis]] </small>
|
|
|-
| Hereditary pulmonary emphysema <br><small>''see'' [[alpha-1 antitrypsin deficiency]] </small>
|
|
|-
| Hereditary resistance to activated protein C <br><small>''see'' [[factor V Leiden thrombophilia]] </small>
|
|
|-
| Hereditary sensory and autonomic neuropathy type III <br><small>''see'' [[familial dysautonomia]] </small>
|
|
|-
| [[Hereditary spastic paraplegia]] <br><small>''see'' infantile-onset ascending hereditary spastic paralysis </small>
|
|
|-
| Hereditary spinal ataxia <br><small>''see'' [[Friedreich ataxia]] </small>
|
|
|-
| Hereditary spinal sclerosis <br><small>''see'' [[Friedreich ataxia]] </small>
|
|
|-
| Herrick's anemia <br><small>''see'' [[sickle cell anemia]] </small>
|
|
|-
| Heterozygous OSMED <br><small>''see'' [[Weissenbacher-Zweymüller syndrome]] </small>
|
|
|-
| Heterozygous otospondylomegaepiphyseal dysplasia <br><small>''see'' [[Weissenbacher-Zweymüller syndrome]] </small>
|
|
|-
| HexA deficiency <br><small>''see'' [[Tay-Sachs disease]] </small>
|
|
|-
| Hexosaminidase A deficiency <br><small>''see'' [[Tay-Sachs disease]] </small>
|
|
|-
| Hexosaminidase alpha-subunit deficiency (variant B) <br><small>''see'' [[Tay-Sachs disease]] </small>
|
|
|-
| HFE-associated hemochromatosis <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| [[HGPS]] <br><small>''see'' [[Progeria|Hutchinson-Gilford progeria syndrome]] </small>
|
|
|-
| Hippel-Lindau disease <br><small>''see'' [[von Hippel-Lindau disease]] </small>
|
|
|-
| HLAH <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| HMN V <br><small>''see'' distal spinal muscular atrophy, type V </small>
|
|
|-
| [[HMSN]] <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small>
|
|
|-
| [[HNPCC]] <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small>
|
|
|-
| HNPP <br><small>''see'' hereditary neuropathy with liability to pressure palsies </small>
|
|
|-
| [[homocystinuria]]
|
|
|-
| Homogentisic acid oxidase deficiency <br><small>''see'' [[alkaptonuria]] </small>
|
|
|-
| Homogentisic acidura <br><small>''see'' [[alkaptonuria]] </small>
|
|
|-
| Homozygous porphyria cutanea tarda <br><small>''see'' [[hepatoerythropoietic porphyria]] </small>
|
|
|-
| HP1 <br><small>''see'' [[hyperoxaluria, primary]] </small>
|
|
|-
| HP2 <br><small>''see'' [[hyperoxaluria, primary]] </small>
|
|
|-
| [[HPA]] <br><small>''see'' [[hyperphenylalaninemia]] </small>
|
|
|-
| [[HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small>
|
|
|-
| HSAN type III <br><small>''see'' [[familial dysautonomia]] </small>
|
|
|-
| HSAN3 <br><small>''see'' [[familial dysautonomia]] </small>
|
|
|-
| HSN-III <br><small>''see'' [[familial dysautonomia]] </small>
|
|
|-
| Human dermatosparaxis <br><small>''see'' [[Ehlers-Danlos syndrome#dermatosparaxis type]] </small>
|
|
|-
| [[Huntington disease]]
| T
| gene IT-15 on chromosome 4 
|-
| [[Huntington's disease]] <br><small>''see'' [[Huntington disease]] </small>
|
|
|-
| [[progeria|Hutchinson-Gilford progeria syndrome]]
|
|
|-
| Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency <br><small>''see'' [[21-hydroxylase deficiency]] </small>
|
|
|-
| Hyperchylomicronemia, familial <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small>
|
|
|-
| hyperglycinemia with ketoacidosis and leukopenia <br><small>''see'' [[propionic acidemia]] </small>
|
|
|-
| [[Hyperlipoproteinemia type I]] <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small>
|
|
|-
| [[hyperoxaluria, primary]]
|
|
|-
| [[hyperphenylalaninemia]] <br><small>''see'' [[hyperphenylalaninemia]] </small>
|
|
|-
| [[hyperphenylalaninemia]]
|
|
|-
| Hypochondrodysplasia <br><small>''see'' [[hypochondroplasia]] </small>
|
|
|-
| [[hypochondrogenesis]]
|
|
|-
| [[hypochondroplasia]]
|
|
|-
| [[Hypochromic anemia]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small>
|
|
|-
| Hypocupremia, congenital <br><small>''see'' [[Menkes syndrome]] </small>
|
|
|-
| [[hypoxanthine phosphoribosyltransferse (HPRT) deficiency]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small>
|
|
|}

== I ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| IAHSP <br><small>''see'' infantile-onset ascending hereditary spastic paralysis </small>
|
|
|-
| idiopathic hemochromatosis <br><small>''see'' hemochromatosis, type 3 </small>
|
|
|-
| Idiopathic neonatal hemochromatosis <br><small>''see'' hemochromatosis, neonatal </small>
|
|
|-
| Idiopathic pulmonary hypertension <br><small>''see'' [[primary pulmonary hypertension]] </small>
|
|
|-
| Immune system disorders <br><small>''see'' [[X-linked severe combined immunodeficiency]] </small>
|
|
|-
| [[Incontinentia Pigmenti]]
|P
|Xq28
|-
| Infantile cerebral Gaucher's disease <br><small>''see'' [[Gaucher disease type 2]] </small>
|
|
|-
| Infantile Gaucher disease <br><small>''see'' [[Gaucher disease type 2]] </small>
|
|
|-
| infantile-onset ascending hereditary spastic paralysis
|
|
|-
| [[Infertility]]
|
|
|-
| inherited emphysema <br><small>''see'' [[alpha-1 antitrypsin deficiency]] </small>
|
|
|-
| Inherited human transmissible spongiform encephalopathies <br><small>''see'' [[prion disease]] </small>
|
|
|-
| inherited tendency to pressure palsies <br><small>''see'' hereditary neuropathy with liability to pressure palsies </small>
|
|
|-
| [[Insley-Astley syndrome]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small>
|
|
|-
| Intermittent acute porphyria syndrome <br><small>''see'' [[acute intermittent porphyria]] </small>
|
|
|-
| Intestinal polyposis-cutaneous pigmentation syndrome <br><small>''see'' [[Peutz-Jeghers syndrome]] </small>
|
|
|-
| [[incontinentia pigmenti|IP]] <br><small>''see'' [[incontinentia pigmenti]] </small>
|
|
|-
| Iron storage disorder <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| [[Isodicentric 15]] <br><small>''see'' [[idic15]] </small>
| Inv dup
| 15q11-14
|-
| Isolated deafness <br><small>''see'' [[nonsyndromic deafness]] </small>
|
|
|}

== J ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[Jackson-Weiss syndrome]]
|
|
|-
| [[JH]] <br><small>''see'' [[Haemochromatosis#type 2]] </small>
|
|
|-
| [[Joubert syndrome]]
|
|
|-
| [[JPLS]] <br><small>''see'' [[Juvenile Primary Lateral Sclerosis]] </small>
| ALS2
|
|-
| juvenile amyotrophic lateral sclerosis <br><small>''see'' [[Amyotrophic lateral sclerosis#type 2]] </small>
|
|
|-
| [[Juvenile gout, choreoathetosis, mental retardation syndrome]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small>
|
|
|-
| [[juvenile hyperuricemia syndrome]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small>
|
|
|-
| [[JWS]] <br><small>''see'' [[Jackson-Weiss syndrome]] </small>
|
|
|}

== K ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[Kennedy disease|KD]] <br><small>''see'' [[X-linked spinal-bulbar muscle atrophy]] </small>
|
|
|-
| [[Kennedy disease]] <br><small>''see'' [[X-linked spinal-bulbar muscle atrophy]] </small>
|
|
|-
| [[Kennedy disease|Kennedy spinal and bulbar muscular atrophy]] <br><small>''see'' [[X-linked spinal-bulbar muscle atrophy]] </small>
|
|
|-
| Kerasin histiocytosis <br><small>''see'' [[Gaucher disease]] </small>
|
|
|-
| Kerasin lipoidosis <br><small>''see'' [[Gaucher disease]] </small>
|
|
|-
| Kerasin thesaurismosis <br><small>''see'' [[Gaucher disease]] </small>
|
|
|-
| ketotic glycinemia <br><small>''see'' [[propionic acidemia]] </small>
|
|
|-
| ketotic hyperglycinemia <br><small>''see'' [[propionic acidemia]] </small>
|
|
|-
| [[Kidney diseases]] <br><small>''see'' [[hyperoxaluria, primary]] </small>
|
|
|-
| [[Kinky hair syndrome]] <br><small>''see'' [[Menkes syndrome]] </small>
|
|
|-
| [[Klinefelter syndrome]]
|
|
|-
| [[Klinefelter's syndrome]] <br><small>''see'' [[Klinefelter syndrome]] </small>
|
|
|-
| [[Kniest dysplasia]]
|
|
|-
| [[Krabbe disease]]
|
|
|}

== L ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| Lacunar dementia <br><small>''see'' [[CADASIL]] </small>
|
|
|-
| [[Langer-Saldino achondrogenesis]] <br><small>''see'' [[achondrogenesis, type II]] </small>
|
|
|-
| [[Langer-Saldino dysplasia]] <br><small>''see'' [[achondrogenesis, type II]] </small>
|
|
|-
| Late-onset Alzheimer disease <br><small>''see'' [[Alzheimer disease#type 2]] </small>
|
|
|-
| Late-onset familial Alzheimer disease (AD2) <br><small>''see'' [[Alzheimer disease#type 2]] </small>
|
|
|-
| late-onset Krabbe disease (LOKD) <br><small>''see'' [[Krabbe disease]] </small>
|
|
|-
| [[Learning disability|Learning Disorders]]
|
|
|-
| Lentiginosis, perioral <br><small>''see'' [[Peutz-Jeghers syndrome]] </small>
|
|
|-
| [[Lesch-Nyhan syndrome]]
|
|
|-
| [[Leukodystrophies]]
|
|
|-
| [[leukodystrophy with Rosenthal fibers]] <br><small>''see'' [[Alexander disease]] </small>
|
|
|-
| Leukodystrophy, spongiform <br><small>''see'' [[Canavan disease]] </small>
|
|
|-
| [[Li-Fraumeni syndrome|LFS]] <br><small>''see'' [[Li-Fraumeni syndrome]] </small>
|
|
|-
| [[Li-Fraumeni syndrome]]
|
|
|-
| Lipase D deficiency <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small>
|
|
|-
| LIPD deficiency <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small>
|
|
|-
| Lipidosis, cerebroside <br><small>''see'' [[Gaucher disease]] </small>
|
|
|-
| Lipidosis, ganglioside, infantile <br><small>''see'' [[Tay-Sachs disease]] </small>
|
|
|-
| Lipoid histiocytosis (kerasin type) <br><small>''see'' [[Gaucher disease]] </small>
|
|
|-
| [[lipoprotein lipase deficiency, familial]]
|
|
|-
| [[Liver diseases]] <br><small>''see'' [[galactosemia]] </small>
|
|
|-
| [[Lou Gehrig disease]] <br><small>''see'' [[amyotrophic lateral sclerosis]] </small>
|
|
|-
| Louis-Bar syndrome <br><small>''see'' [[ataxia-telangiectasia]] </small>
|
|
|-
| [[Lynch syndrome]] <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small>
|
|
|-
| Lysyl-hydroxylase deficiency <br><small>''see'' [[Ehlers-Danlos syndrome#kyphoscoliosis type]] </small>
|
|
|}

== M ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[Machado-Joseph disease]] <br><small>''see'' [[Spinocerebellar ataxia]] type 3 </small>
|
|
|-
| Male breast cancer <br><small>''see'' [[breast cancer]] </small>
|
|
|-
| Male genital disorders
|
|
|-
| Male Turner syndrome <br><small>''see'' [[Noonan syndrome]] </small>
|
|
|-
| Malignant neoplasm of breast <br><small>''see'' [[breast cancer]] </small>
|
|
|-
| malignant tumor of breast <br><small>''see'' [[breast cancer]] </small>
|
|
|-
| Malignant tumor of urinary bladder <br><small>''see'' [[bladder cancer]] </small>
|
|
|-
| Mammary cancer <br><small>''see'' [[breast cancer]] </small>
|
|
|-
| [[Marfan syndrome]]
|
|15
|-
| Marker X syndrome <br><small>''see'' [[fragile X syndrome]] </small>
|
|
|-
| [[Martin-Bell syndrome]] <br><small>''see'' [[fragile X syndrome]] </small>
|
|
|-
| [[McCune-Albright syndrome]]
|
|20 q13.2-13.3
|-
| [[McLeod syndrome]]
|
|X
|-
| [[Mediterranean Anemia]] <br><small>''see'' [[beta thalassemia]] </small>
|
|
|-
| [[Mediterranean fever, familial]]
|
|
|-
| [[Mega-epiphyseal dwarfism]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small>
|
|
|-
| Menkea syndrome <br><small>''see'' [[Menkes syndrome]] </small>
|
|
|-
| [[Menkes syndrome]]
|
|
|-
| Mental retardation with osteocartilaginous abnormalities <br><small>''see'' [[Coffin-Lowry syndrome]] </small>
|
|
|-
| [[Metabolic disorders]]
|
|
|-
| [[Metatropic dwarfism, type II]] <br><small>''see'' [[Kniest dysplasia]] </small>
|
|
|-
| [[Metatropic dysplasia type II]] <br><small>''see'' [[Kniest dysplasia]] </small>
|
|
|-
| [[Methemoglobinemia#beta-globin type]]
|
|
|-
| [[methylmalonic acidemia]]
|
|
|-
| [[MFS]] <br><small>''see'' [[Marfan syndrome]] </small>
|
|
|-
| MHAM <br><small>''see'' [[Cowden syndrome]] </small>
|
|
|-
| MK - Menkes syndrome <br><small>''see'' [[Menkes syndrome]] </small>
|
|
|-
| [[Microcephaly]]
| P
| 1q31 ([[ASPM]])
|-
| [[Methylmalonic acidemia|MMA]] <br><small>''see'' [[methylmalonic acidemia]] </small>
|
|
|-
| MNK - Menkes syndrome <br><small>''see'' [[Menkes syndrome]] </small>
|
|
|-
| monosomy X <br><small>''see'' [[Turner syndrome]] </small>
|
|
|-
| Motor neuron disease, amyotrophic lateral sclerosis <br><small>''see'' [[amyotrophic lateral sclerosis]] </small>
|
|
|-
| [[Movement disorders]]
|
|
|-
| [[Mowat-Wilson syndrome]]
|
|
|-
| [[Mucoviscidosis]] <br><small>''see'' [[cystic fibrosis]] </small>
|
|
|-
| [[Muenke syndrome]]
|
|
|-
| Multi-Infarct dementia <br><small>''see'' [[CADASIL]] </small>
|
|
|-
| Multiple carboxylase deficiency, late-onset <br><small>''see'' [[biotinidase deficiency]] </small>
|
|
|-
| Multiple hamartoma syndrome <br><small>''see'' [[Cowden syndrome]] </small>
|
|
|-
| Multiple neurofibromatosis <br><small>''see'' [[neurofibromatosis]] </small>
|
|
|-
| [[Muscular dystrophy]]
|
|
|-
| [[Muscular dystrophy, Duchenne and Becker type]]
|
|
|-
| Myotonia atrophica <br><small>''see'' [[myotonic dystrophy]] </small>
|
|
|-
| Myotonia dystrophica <br><small>''see'' [[myotonic dystrophy]] </small>
|
|
|-
| [[myotonic dystrophy]]
|
|
|-
| Myxedema, congenital <br><small>''see'' [[congenital hypothyroidism]] </small>
|
|
|}

== N ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[Nance-Insley syndrome]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small>
|
|
|-
| [[Nance-Sweeney chondrodysplasia]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small>
|
|
|-
| NBIA1 <br><small>''see'' [[pantothenate kinase-associated neurodegeneration]] </small>
|
|
|-
| [[Neill-Dingwall syndrome]] <br><small>''see'' [[Cockayne syndrome]] </small>
|
|
|-
| Neuroblastoma, retinal <br><small>''see'' [[retinoblastoma]] </small>
|
|
|-
| Neurodegeneration with brain iron accumulation type 1 <br><small>''see'' [[pantothenate kinase-associated neurodegeneration]] </small>
|
|
|-
| [[Neurofibromatosis type I]]
|
|17q11.2
|-
| [[Neurofibromatosis type II]]
|
|
|-
| [[Neurologic diseases]]
|
|
|-
| Neuromuscular disorders
|
|
|-
| neuronopathy, distal hereditary motor, type V <br><small>''see'' Distal spinal muscular atrophy#type V </small>
|
|
|-
| neuronopathy, distal hereditary motor, with pyramidal features <br><small>''see'' [[Amyotrophic lateral sclerosis#type 4]] </small>
|
|
|-
| [[NF]] <br><small>''see'' [[neurofibromatosis|Neurofibromatosis types I & II]] </small>
|
|
|-
| [[Niemann-Pick]] <br><small>''see'' [[Niemann-Pick disease]] </small>
| NPA, NPB, NPC1, NPC2, SMPD1
|
|-
| Noack syndrome <br><small>''see'' [[Pfeiffer syndrome]] </small>
|
|
|-
| [[Nonketotic hyperglycinemia]] <br><small>''see'' [[Glycine encephalopathy]] </small>
|
|
|-
| Non-neuronopathic Gaucher disease <br><small>''see'' [[Gaucher disease type 1]] </small>
|
|
|-
| Non-phenylketonuric hyperphenylalaninemia <br><small>''see'' [[tetrahydrobiopterin deficiency]] </small>
|
|
|-
| [[nonsyndromic deafness]]
|
|
|-
| [[Noonan syndrome]]
|
|
|-
| Norrbottnian Gaucher disease <br><small>''see'' [[Gaucher disease type 3]] </small>
|
|
|}

== O ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[Ochronosis]] <br><small>''see'' [[alkaptonuria]] </small>
|
|
|-
| Ochronotic arthritis <br><small>''see'' [[alkaptonuria]] </small>
|
|
|-
| [[OI]] <br><small>''see'' [[osteogenesis imperfecta]] </small>
|
|
|-
| [[OSMED]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small>
|
|
|-
| [[osteogenesis imperfecta]]
|
|
|-
| Osteopsathyrosis <br><small>''see'' [[osteogenesis imperfecta]] </small>
|
|
|-
| Osteosclerosis congenita <br><small>''see'' [[achondroplasia]] </small>
|
|
|-
| [[Oto-spondylo-megaepiphyseal dysplasia]] <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small>
|
|
|-
| [[otospondylomegaepiphyseal dysplasia]]
|
|
|-
| Oxalosis <br><small>''see'' [[hyperoxaluria, primary]] </small>
|
|
|-
| Oxaluria, primary <br><small>''see'' [[hyperoxaluria, primary]] </small>
|
|
|}

== P ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder 
! Mutation
! Chromosome
|-
| [[pantothenate kinase-associated neurodegeneration]]
|
|
|-
| [[Patau Syndrome|Patau Syndrome (Trisomy 13)]]
|
|
|-
| PBGD deficiency <br><small>''see'' [[acute intermittent porphyria]] </small>
|
|
|-
| PCC deficiency <br><small>''see'' [[propionic acidemia]] </small>
|
|
|-
| [[PCT]] <br><small>''see'' [[porphyria cutanea tarda]] </small>
|
|
|-
| [[PDM]] <br><small>''see'' [[Myotonic dystrophy#type 2]] </small>
|
|
|-
| [[Pendred syndrome]]
|
|
|-
| Periodic disease <br><small>''see'' [[Mediterranean fever, familial]] </small>
|
|
|-
| Periodic peritonitis <br><small>''see'' [[Mediterranean fever, familial]] </small>
|
|
|-
| Periorificial lentiginosis syndrome <br><small>''see'' [[Peutz-Jeghers syndrome]] </small>
|
|
|-
| Peripheral nerve disorders <br><small>''see'' [[familial dysautonomia]] </small>
|
|
|-
| Peripheral neurofibromatosis <br><small>''see'' [[neurofibromatosis 1]] </small>
|
|
|-
| Peroneal muscular atrophy <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small>
|
|
|-
| peroxisomal alanine:glyoxylate aminotransferase deficiency <br><small>''see'' [[hyperoxaluria, primary]] </small>
|
|
|-
| [[Peutz-Jeghers syndrome]]
|
|
|-
| [[Pfeiffer syndrome]]
|
|
|-
| Phenylalanine hydroxylase deficiency disease <br><small>''see'' [[phenylketonuria]] </small>
|
|
|-
| [[phenylketonuria]]
|
|
|-
| [[Pheochromocytoma]] <br><small>''see'' [[von Hippel-Lindau disease]] </small>
|
|
|-
| Pierre Robin syndrome with fetal chondrodysplasia <br><small>''see'' [[Weissenbacher-Zweymüller syndrome]] </small>
|
|
|-
| Pigmentary cirrhosis <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| [[PJS]] <br><small>''see'' [[Peutz-Jeghers syndrome]] </small>
|
|
|-
| [[PKAN]] <br><small>''see'' [[pantothenate kinase-associated neurodegeneration]] </small>
|
|
|-
| [[PKU]] <br><small>''see'' [[phenylketonuria]] </small>
|
|
|-
| Plumboporphyria <br><small>''see'' ALA deficiency porphyria </small>
|
|
|-
| [[PMA]] <br><small>''see'' Charcot-Marie-tooth disease </small>
|
|
|-
| [[polyostotic fibrous dysplasia]]<br><small>''see'' [[McCune-Albright syndrome]]</small>
|
|20 q13.2-13.3
|-
| polyposis coli <br><small>''see'' [[familial adenomatous polyposis]] </small>
|
|
|-
| [[polyposis, hamartomatous intestinal]] <br><small>''see'' [[Peutz-Jeghers syndrome]] </small>
|
|
|-
| polyposis, intestinal, II <br><small>''see'' [[Peutz-Jeghers syndrome]] </small>
|
|
|-
| [[polyps-and-spots syndrome]] <br><small>''see'' [[Peutz-Jeghers syndrome]] </small>
|
|
|-
| Porphobilinogen synthase deficiency <br><small>''see'' ALA deficiency porphyria </small>
|
|
|-
| [[porphyria]]
|
|
|-
| porphyrin disorder <br><small>''see'' [[porphyria]] </small>
|
|
|-
| [[PPH]] <br><small>''see'' [[primary pulmonary hypertension]] </small>
|
|
|-
| PPOX deficiency <br><small>''see'' [[variegate porphyria]] </small>
|
|
|-
| Prader-Labhart-Willi syndrome <br><small>''see'' [[Prader-Willi syndrome]] </small>
|
|
|-
| [[Prader-Willi syndrome]]
|
|
|-
| presenile and senile dementia <br><small>''see'' [[Alzheimer disease]] </small>
|
|
|-
| primary hemochromatosis <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| [[primary hyperuricemia syndrome]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small>
|
|
|-
| [[primary pulmonary hypertension]]
|
|
|-
| primary senile degenerative dementia <br><small>''see'' [[Alzheimer disease]] </small>
|
|
|-
| [[prion disease]]
|
|
|-
| procollagen type EDS VII, mutant <br><small>''see'' [[Ehlers-Danlos syndrome#arthrochalasia type]] </small>
|
|
|-
| [[progeria]] <br><small>''see'' Hutchinson Gilford progeria syndrome </small>
|
|
|-
| Progeria-like syndrome <br><small>''see'' [[Cockayne syndrome]] </small>
|
|
|-
| progeroid nanism <br><small>''see'' [[Cockayne syndrome]] </small>
|
|
|-
| progressive chorea, chronic hereditary (Huntington) <br><small>''see'' [[Huntington disease]] </small>
|
|
|-
| [[progressive muscular atrophy]] <br><small>''see'' [[spinal muscular atrophy]] </small>
|
|
|-
| progressively deforming osteogenesis imperfecta with normal sclerae <br><small>''see'' [[Osteogenesis imperfecta#type III]] </small>
|
|
|-
| [[PROMM]] <br><small>''see'' [[Myotonic dystrophy#type 2]] </small>
|
|
|-
| [[propionic acidemia]]
|
|
|-
| propionyl-CoA carboxylase deficiency <br><small>''see'' [[propionic acidemia]] </small>
|
|
|-
| [[protein C deficiency]]
|
|
|-
| [[protein S deficiency]]
|
|
|-
| protoporphyria <br><small>''see'' [[erythropoietic protoporphyria]] </small>
|
|
|-
| protoporphyrinogen oxidase deficiency <br><small>''see'' [[variegate porphyria]] </small>
|
|
|-
| proximal myotonic dystrophy <br><small>''see'' [[Myotonic dystrophy#type 2]] </small>
|
|
|-
| [[proximal myotonic myopathy]] <br><small>''see'' [[Myotonic dystrophy#type 2]] </small>
|
|
|-
| pseudo-Gaucher disease
|
|
|-
| pseudo-Ullrich-Turner syndrome <br><small>''see'' [[Noonan syndrome]] </small>
|
|
|-
| [[pseudoxanthoma elasticum]]
|
|
|-
| psychosine lipidosis <br><small>''see'' [[Krabbe disease]] </small>
|
|
|-
| [[pulmonary arterial hypertension]] <br><small>''see'' [[primary pulmonary hypertension]] </small>
|
|
|-
| [[pulmonary hypertension]] <br><small>''see'' [[primary pulmonary hypertension]] </small>
|
|
|-
| [[PWS]] <br><small>''see'' [[Prader-Willi syndrome]] </small>
|
|
|-
| PXE - pseudoxanthoma elasticum <br><small>''see'' [[pseudoxanthoma elasticum]] </small>
|
|
|}

== R ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[Rb]] <br><small>''see'' [[retinoblastoma]] </small>
|
|
|-
| Recklinghausen disease, nerve <br><small>''see'' [[neurofibromatosis 1]] </small>
|
|
|-
| Recurrent polyserositis <br><small>''see'' [[Mediterranean fever, familial]] </small>
|
|
|-
| [[Retinal disorders]]
|
|
|-
| Retinitis pigmentosa-deafness syndrome <br><small>''see'' [[Usher syndrome]] </small>
|
|
|-
| [[retinoblastoma]]
|
|
|-
| [[Rett syndrome]]
|
|
|-
| RFALS type 3 <br><small>''see'' [[Amyotrophic lateral sclerosis#type 2]] </small>
|
|
|-
| Ricker syndrome <br><small>''see'' [[Myotonic dystrophy#type 2]] </small>
|
|
|-
| [[Riley-Day syndrome]] <br><small>''see'' [[familial dysautonomia]] </small>
|
|
|-
| Roussy-Levy syndrome <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small>
|
|
|-
| [[RSTS]] <br><small>''see'' [[Rubinstein-Taybi syndrome]] </small>
|
|
|-
| [[RTS]] <br><small>''see'' [[Rett syndrome]] <br><small>''see'' [[Rubinstein-Taybi syndrome]] </small>
|
|
|-
| [[RTT]] <br><small>''see'' [[Rett syndrome]] </small>
|
|
|-
| [[Rubinstein-Taybi syndrome]]
|
|
|}

== S ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[Sack-Barabas syndrome]] <br><small>''see'' [[Ehlers-Danlos syndrome, vascular type]] </small>
|
|
|-
| [[SADDAN]]
|
|
|-
| sarcoma family syndrome of Li and Fraumeni <br><small>''see'' [[Li-Fraumeni syndrome]] </small>
|
|
|-
| sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome <br><small>''see'' [[Li-Fraumeni syndrome]] </small>
|
|
|-
| SBLA syndrome <br><small>''see'' [[Li-Fraumeni syndrome]] </small>
|
|
|-
| [[SBMA]] <br><small>''see'' [[X-linked spinal-bulbar muscle atrophy]] </small>
|
|
|-
| [[SCD]] <br><small>''see'' [[sickle cell anemia]] </small>
|
|
|-
| Schwannoma, acoustic, bilateral <br><small>''see'' [[neurofibromatosis 2]] </small>
|
|
|-
| SCIDX1 <br><small>''see'' [[X-linked severe combined immunodeficiency]] </small>
|
|
|-
| [[sclerosis tuberosa]] <br><small>''see'' [[tuberous sclerosis]] </small>
|
|
|-
| SDAT <br><small>''see'' [[Alzheimer disease]] </small>
|
|
|-
| [[SED congenita]] <br><small>''see'' [[spondyloepiphyseal dysplasia congenita]] </small>
|
|
|-
| [[SED Strudwick]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small>
|
|
|-
| [[SEDc]] <br><small>''see'' [[spondyloepiphyseal dysplasia congenita]] </small>
|
|
|-
| [[SEMD, Strudwick type]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small>
|
|
|-
| [[senile dementia]] <br><small>''see'' [[Alzheimer disease#type 2]] </small>
|
|
|-
| severe achondroplasia with developmental delay and acanthosis nigricans <br><small>''see'' [[SADDAN]] </small>
|
|
|-
| [[Shprintzen syndrome]] <br><small>''see'' [[22q11.2 deletion syndrome]] </small>
| D
| 22q
|-
| [[sickle cell anemia]]
|
|
|-
| skeleton-skin-brain syndrome <br><small>''see'' [[SADDAN]] </small>
|
|
|-
| Skin pigmentation disorders
|
|
|-
| [[SMA]] <br><small>''see'' [[spinal muscular atrophy]] </small>
|
|
|-
| [[SMED, Strudwick type]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small>
|
|
|-
| [[SMED, type I]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small>
|
|
|-
| South-African genetic porphyria <br><small>''see'' [[variegate porphyria]] </small>
|
|
|-
| spastic paralysis, infantile onset ascending <br><small>''see'' infantile-onset ascending hereditary spastic paralysis </small>
|
|
|-
| Speech and communication disorders
|
|
|-
| sphingolipidosis, Tay-Sachs <br><small>''see'' [[Tay-Sachs disease]] </small>
|
|
|-
| spinal-bulbar muscular atrophy
|
|
|-
| [[spinal muscular atrophy]]
|
|
|-
| spinal muscular atrophy, distal type V <br><small>''see'' Distal spinal muscular atrophy#type V </small>
|
|
|-
| spinal muscular atrophy, distal, with upper limb predominance <br><small>''see'' Distal spinal muscular atrophy#type V </small>
|
|
|-
| [[spinocerebellar ataxia]]
|
|
|-
| [[spondyloepimetaphyseal dysplasia, Strudwick type]]
|
|
|-
| [[spondyloepiphyseal dysplasia congenita]]
|
|
|-
| [[spondyloepiphyseal dysplasia]] <br><small>''see'' [[collagenopathy, types II and XI]] </small>
|
|
|-
| [[spondylometaepiphyseal dysplasia congenita, Strudwick type]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small>
|
|
|-
| [[spondylometaphyseal dysplasia (SMD)]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small>
|
|
|-
| spondylometaphyseal dysplasia, Strudwick type <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small>
|
|
|-
| spongy degeneration of central nervous system <br><small>''see'' [[Canavan disease]] </small>
|
|
|-
| spongy degeneration of the brain <br><small>''see'' [[Canavan disease]] </small>
|
|
|-
| spongy degeneration of white matter in infancy <br><small>''see'' [[Canavan disease]] </small>
|
|
|-
| sporadic primary pulmonary hypertension <br><small>''see'' [[primary pulmonary hypertension]] </small>
|
|
|-
| SSB syndrome <br><small>''see'' [[SADDAN]] </small>
|
|
|-
| steely hair syndrome <br><small>''see'' [[Menkes syndrome]] </small>
|
|
|-
| Steinert disease <br><small>''see'' [[myotonic dystrophy]] </small>
|
|
|-
| Steinert myotonic dystrophy syndrome <br><small>''see'' [[myotonic dystrophy]] </small>
|
|
|-
| [[Stickler syndrome]]
|
|
|-
| [[stroke]] <br><small>''see'' [[CADASIL]] </small>
|
|
|-
| [[Strudwick syndrome]] <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small>
|
|
|-
| subacute neuronopathic Gaucher disease <br><small>''see'' [[Gaucher disease type 3]] </small>
|
|
|-
| Swedish genetic porphyria <br><small>''see'' [[acute intermittent porphyria]] </small>
|
|
|-
| Swedish porphyria <br><small>''see'' [[acute intermittent porphyria]] </small>
|
|
|-
| [[Swiss cheese cartilage dysplasia]] <br><small>''see'' [[Kniest dysplasia]] </small>
|
|
|}

== T ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[Tay-Sachs disease]]
|
|
|-
| TD - thanatophoric dwarfism <br><small>''see'' [[thanatophoric dysplasia]] </small>
|
|
|-
| TD with straight femurs and cloverleaf skull <br><small>''see'' [[thanatophoric dysplasia#Type 2]] </small>
|
|
|-
| Telangiectasia, cerebello-oculocutaneous <br><small>''see'' [[ataxia-telangiectasia]] </small>
|
|
|-
| Testicular feminization syndrome <br><small>''see'' [[androgen insensitivity syndrome]] </small>
|
|
|-
| [[tetrahydrobiopterin deficiency]]
|
|
|-
| TFM - testicular feminization syndrome <br><small>''see'' [[androgen insensitivity syndrome]] </small>
|
|
|-
| [[thalassemia intermedia]] <br><small>''see'' [[beta thalassemia]] </small>
|
|
|-
| [[Thalassemia Major]] <br><small>''see'' [[beta thalassemia]] </small>
|
|
|-
| [[thanatophoric dysplasia]]
|
|
|-
| thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
|
|
|-
| Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type <br><small>''see'' [[factor V Leiden thrombophilia]] </small>
|
|
|-
| [[Thyroid disease]]
|
|
|-
| Tomaculous neuropathy <br><small>''see'' hereditary neuropathy with liability to pressure palsies </small>
|
|
|-
| [[Total HPRT deficiency]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small>
|
|
|-
| [[Total hypoxanthine-guanine phosphoribosyl transferase deficiency]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small>
|
|
|-
| Transmissible dementias <br><small>''see'' [[prion disease]] </small>
|
|
|-
| [[Transmissible spongiform encephalopathies]] <br><small>''see'' [[prion disease]] </small>
|
|
|-
|[[Treacher Collins syndrome]]
|
|5q32-q33.1
|-
| Trias fragilitis ossium <br><small>''see'' [[osteogenesis imperfecta#Type I]] </small>
|
|
|-
| [[triple X syndrome]]
|
|
|-
| [[Triplo X syndrome]] <br><small>''see'' [[triple X syndrome]] </small>
|
|
|-
| [[Trisomy 21]] <br><small>''see'' [[Down syndrome]] </small>
|
|
|-
| [[Trisomy X]] <br><small>''see'' [[triple X syndrome]] </small>
|
|
|-
| Troisier-Hanot-Chauffard syndrome <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| TS <br><small>''see'' [[Turner syndrome]] </small>
|
|
|-
| TSD <br><small>''see'' [[Tay-Sachs disease]] </small>
|
|
|-
| [[TSEs]] <br><small>''see'' [[prion disease]] </small>
|
|
|-
| [[tuberose sclerosis]] <br><small>''see'' [[tuberous sclerosis]] </small>
|
|
|-
| tuberous sclerosis
|
|
|-
| [[Turner syndrome]]
|
|
|-
| Turner syndrome in female with X chromosome <br><small>''see'' [[Noonan syndrome]] </small>
|
|
|-
| Turner's phenotype, karyotype normal <br><small>''see'' [[Noonan syndrome]] </small>
|
|
|-
| [[Turner's syndrome]] <br><small>''see'' [[Turner syndrome]] </small>
|
|
|-
| Turner-like syndrome <br><small>''see'' [[Noonan syndrome]] </small>
|
|
|-
| Type 2 Gaucher disease <br><small>''see'' [[Gaucher disease type 2]] </small>
|
|
|-
| Type 3 Gaucher disease <br><small>''see'' [[Gaucher disease type 3]] </small>
|
|
|}

== U ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| UDP-galactose-4-epimerase deficiency disease <br><small>''see'' [[galactosemia]] </small>
|
|
|-
| UDP glucose 4-epimerase deficiency disease <br><small>''see'' [[galactosemia]] </small>
|
|
|-
| UDP glucose hexose-1-phosphate uridylyltransferase deficiency <br><small>''see'' [[galactosemia]] </small>
|
|
|-
| Ullrich-Noonan syndrome <br><small>''see'' [[Noonan syndrome]] </small>
|
|
|-
| [[Ullrich-Turner syndrome]] <br><small>''see'' [[Turner syndrome]] </small>
|
|
|-
| Undifferentiated deafness <br><small>''see'' [[nonsyndromic deafness]] </small>
|
|
|-
| UPS deficiency <br><small>''see'' [[acute intermittent porphyria]] </small>
|
|
|-
| [[Urinary bladder cancer]] <br><small>''see'' [[bladder cancer]] </small>
|
|
|-
| [[UROD deficiency]] <br><small>''see'' [[porphyria cutanea tarda]] </small>
|
|
|-
| Uroporphyrinogen decarboxylase deficiency <br><small>''see'' [[porphyria cutanea tarda]] </small>
|
|
|-
| Uroporphyrinogen synthase deficiency <br><small>''see'' [[acute intermittent porphyria]] </small>
|
|
|-
| UROS deficiency <br><small>''see'' [[congenital erythropoietic porphyria]] </small>
|
|
|-
| [[Usher syndrome]]
|
|
|-
| UTP hexose-1-phosphate uridylyltransferase deficiency <br><small>''see'' [[galactosemia]] </small>
|
|
|}

== V ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| Van Bogaert-Bertrand syndrome <br><small>''see'' [[Canavan disease]] </small>
|
|
|-
| Van der Hoeve syndrome <br><small>''see'' [[osteogenesis imperfecta#Type I]] </small>
|
|
|-
| [[variegate porphyria]]
|
|
|-
| [[Velocardiofacial syndrome]] <br><small>''see'' [[22q11.2 deletion syndrome]] </small>
| D
| 22q
|-
| [[VHL syndrome]] <br><small>''see'' [[von Hippel-Lindau disease]] </small>
|
|
|-
| Vision impairment and blindness <br><small>''see'' [[Alstrom syndrome]] </small>
|
|
|-
| Von Bogaert-Bertrand disease <br><small>''see'' [[Canavan disease]] </small>
|
|
|-
| [[von Hippel-Lindau disease]]
|
|
|-
| [[Von Recklenhausen-Applebaum disease]] <br><small>''see'' [[hemochromatosis]] </small>
|
|
|-
| [[von Recklinghausen disease]] <br><small>''see'' [[neurofibromatosis 1]] </small>
|
|
|-
| VP <br><small>''see'' [[variegate porphyria]] </small>
|
|
|-
| [[Vrolik disease]] <br><small>''see'' [[osteogenesis imperfecta]] </small>
|
|
|}

== W ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[Waardenburg syndrome]]
|
|
|-
| [[WD - Wilson's disease]] <br><small>''see'' [[Wilson disease]] </small>
|
|
|-
| [[Weissenbacher-Zweymüller syndrome]]
|
|
|-
| [[Wilson disease]]
|
|
|-
| [[Wilson's disease]] <br><small>''see'' [[Wilson disease]] </small>
|
|
|-
| [[Wolff Periodic disease]] <br><small>''see'' [[Mediterranean fever, familial]] </small>
|
|
|-
| [[WZS]] <br><small>''see'' [[Weissenbacher-Zweymüller syndrome]] </small>
|
|
|}

== X ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[Xeroderma Pigmentosum]]
|ERCC4
|15
|-
| [[X-linked mental retardation and macroorchidism]] <br><small>''see'' [[fragile X syndrome]] </small>
|
|
|-
| [[X-linked primary hyperuricemia]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small>
|
|
|-
| [[X-linked severe combined immunodeficiency]]
|
|
|-
| [[X-linked sideroblastic anemia]]
|
|
|-
| [[X-linked spinal-bulbar muscle atrophy]] <br><small>''see'' [[Kennedy disease]] </small>
|
|
|-
| [[X-linked uric aciduria enzyme defect]] <br><small>''see'' [[Lesch-Nyhan syndrome]] </small>
|
|
|-
| [[X-SCID]] <br><small>''see'' [[X-linked severe combined immunodeficiency]] </small>
|
|
|-
| [[XLSA]] <br><small>''see'' [[X-linked sideroblastic anemia]] </small>
|
|
|-
| [[XSCID]] <br><small>''see'' [[X-linked severe combined immunodeficiency]] </small>
|
|
|-
| [[XXX syndrome]] <br><small>''see'' [[triple X syndrome]] </small>
|
|
|-
| [[XXXX syndrome]] <br>
|
|
|-
| [[XXY syndrome]] <br><small>''see'' [[Klinefelter syndrome]] </small>
|
|
|-
| [[XXY trisomy]] <br><small>''see'' [[Klinefelter syndrome]] </small>
|
|
|-
| [[XYY karyotype]] <br><small>''see'' [[47,XYY syndrome]] </small>
|
|
|-
| [[XYY syndrome]] <br><small>''see'' [[47,XYY syndrome]] </small>
|
|
|}

== Y ==
{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! Disorder
! Mutation
! Chromosome
|-
| [[YY syndrome]] <br><small>''see'' [[47,XYY syndrome]] </small>
|
|
|}




[[es:Lista de enfermedades genéticas]]
[[fr:Liste des maladies génétiques à gène identifié]]
[[hu:Genetikai betegségek listája]]
[[nl:Lijst van erfelijke aandoeningen]]
[[ja:遺伝子疾患の一覧]]
[[ru:Список наследственных заболеваний]]

[[Category:Lists of diseases|Genetic disorders]]
[[Category:Genetic disorders|*]]
[[Category:Cardiology]]
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