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| == Differential diagnosis == | | =Codes= |
| {| class="wikitable"
| | <div style="text-align: center;">'''Corrected total calcium = measured total calcium + 0.8 (4.0 − serum albumin)''' </div> |
| ! colspan="4" |Hypoparathyroidism
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| !Inheritance
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| !Gene mutation
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| !Clinical features
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| |-
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| | colspan="2" |Autoimmune<ref name="pmid2348835">{{cite journal |vauthors=Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J |title=Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients |journal=N. Engl. J. Med. |volume=322 |issue=26 |pages=1829–36 |year=1990 |pmid=2348835 |doi=10.1056/NEJM199006283222601 |url=}}</ref>
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| | Autoimmune polyglandular hypoparathyroidism
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| | Autoimmune polyglandular endocrinopathy type 1
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| | Autosomal recessive disease
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| | Mutation in AIRE gene
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| *Also known as autosomal recessive disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
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| *Presents with a variable combination of:
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| **Failure of the parathyroid glands, adrenal cortex, gonads, pancreatic beta cells, gastric parietal cells, and thyroid gland, and hepatitis
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| **Chronic mucocutaneous candidiasis
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| **Dystrophy of dental enamel and nails, alopecia, vitiligo, and keratopath
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| |-
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| | colspan="2" rowspan="7" |Isolated
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| | colspan="2" rowspan="5" |Familial Isolated hypoparathyroidism
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| | rowspan="2" |[[Autosomal dominant]]
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| |PTH gene
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| |-
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| |[[GCM2]] gene
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| *[[Dominant negative mutation]]
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| |-
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| | rowspan="2" |[[Autosomal recessive]]
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| |PTH gene<ref name="pmid10523031">{{cite journal |vauthors=Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S |title=A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue=10 |pages=3792–6 |year=1999 |pmid=10523031 |doi=10.1210/jcem.84.10.6070 |url=}}</ref>
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| |[[GCM2]] gene<ref name="pmid18712808" /><ref name="pmid11602629">{{cite journal |vauthors=Ding C, Buckingham B, Levine MA |title=Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB |journal=J. Clin. Invest. |volume=108 |issue=8 |pages=1215–20 |year=2001 |pmid=11602629 |pmc=209530 |doi=10.1172/JCI13180 |url=}}</ref>
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| |-
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| |[[X-linked]]
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| |[[FHL1 (gene)|FHL1]] gene (exon 4, c.C283T, p.R95W) on chromosome locus Xq26-q27.<ref name="pmid28444561">{{cite journal |vauthors=Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N |title=A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism |journal=Hum. Genet. |volume=136 |issue=7 |pages=835–845 |year=2017 |pmid=28444561 |pmc=5487855 |doi=10.1007/s00439-017-1804-9 |url=}}</ref>
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| | rowspan="2" |Autosomal dominant hypercalcemia<ref name="pmid278036722">{{cite journal |vauthors=Roszko KL, Bi RD, Mannstadt M |title=Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2 |journal=Front Physiol |volume=7 |issue= |pages=458 |year=2016 |pmid=27803672 |pmc=5067375 |doi=10.3389/fphys.2016.00458 |url=}}</ref>
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| |Autosomal dominant hypocalcemia type 1
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| |[[Autosomal dominant]]
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| |Calcium-sensing receptor gene mutation
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| *[[Calcium-sensing receptor|Calcium-sensing]] receptor gene activating mutation.
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| *'''Most common genetic form''' of hypoparathyroidism.
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| *Also known as familial hypercalciuric hypocalcemia.
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| *The activating mutation results in gain in function.
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| *Calcium-sensing receptor gene activating mutation can also cause Bartter syndrome type 5.This mutation cause the inhibition of apical potassium channel in the thick ascending limb of the loop of Henle in the kidney.<ref name="pmid17048213">{{cite journal |vauthors=Vezzoli G, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, Mora S, Syren ML, Coviello D, Cusi D, Bianchi G, Soldati L |title=Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome |journal=J. Nephrol. |volume=19 |issue=4 |pages=525–8 |year=2006 |pmid=17048213 |doi= |url=}}</ref><ref name="pmid25932037">{{cite journal |vauthors=Choi KH, Shin CH, Yang SW, Cheong HI |title=Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C |journal=Korean J Pediatr |volume=58 |issue=4 |pages=148–53 |year=2015 |pmid=25932037 |pmc=4414630 |doi=10.3345/kjp.2015.58.4.148 |url=}}</ref>
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| |-
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| |Autosomal dominant hypocalcemia type 2
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| |[[Autosomal dominant]]
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| |G protein G11 (GNA11) mutation
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| |-
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| | colspan="2" rowspan="6" |Congenital multisystem syndromes
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| | colspan="2" |'''[[DiGeorge syndrome]]'''<ref name="pmid21049214">{{cite journal |vauthors=Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM |title=DiGeorge Syndrome: a not so rare disease |journal=Clinics (Sao Paulo) |volume=65 |issue=9 |pages=865–9 |year=2010 |pmid=21049214 |pmc=2954737 |doi= |url=}}</ref>
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| |[[Autosomal dominant]]
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| |[[22q11.2 deletion syndrome|22q11.2 deletion]].
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| * Presents with [[thymus]] [[dysfunction]], [[cardiac]] defects, [[immunodeficiency]], [[hypocalcemia]], and other clinical problems.
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| *Also known as [[22q11.2DS]], [[CATCH 22 syndrome]], [[Cayler cardiofacial syndrome]], [[conotruncal anomaly face syndrome]] ([[CTAF]]), [[deletion 22q11.2 syndrome]], [[Sedlackova syndrome]], [[Shprintzen syndrome]], VCFS, [[velocardiofacial syndrome]], and velo-cardio-facial syndrome.
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| *[[CATCH 22 syndrome|CATCH 22]] stands for [[cardiac]] defects, abnormal facies, [[thymic]] [[aplasia]], [[cleft palate]], and [[hypocalcemia]] with [[22q11.2 deletion syndrome|22q11.2 deletion]].
| | <div style="width: 70%;"> |
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| | colspan="2" |'''[[CHARGE syndrome]]'''<ref name="pmid21995344">{{cite journal |vauthors=Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E |title=Unique phenotype in a patient with CHARGE syndrome |journal=Int J Pediatr Endocrinol |volume=2011 |issue= |pages=11 |year=2011 |pmid=21995344 |pmc=3216247 |doi=10.1186/1687-9856-2011-11 |url=}}</ref>
| | <br style="clear:left" /> |
| |[[Autosomal dominant]]
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| |CHD7 G744S [[missense mutation]]
| | ==References== |
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| * Presents with [[coloboma]], [[heart]] defects, [[Choanal atresia|atresia choanae]], retarded growth and development, [[Genitourinary pathology|genitourinary abnormalities]], and [[ear]] anomalies and/or [[deafness]].
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| | colspan="2" |'''Kenny-Caffey syndrome type 1'''<ref name="pmid23087875">{{cite journal |vauthors=Metwalley KA, Farghaly HS |title=Kenny-Caffey syndrome type 1 in an Egyptian girl |journal=Indian J Endocrinol Metab |volume=16 |issue=5 |pages=827–9 |year=2012 |pmid=23087875 |pmc=3475915 |doi=10.4103/2230-8210.100645 |url=}}</ref>
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| |[[Autosomal recessive]]
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| |Deletion of the [[TBCE]] gene
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| * Presents with [[hypoparathyroidism]] due to absent parathyroid tissue, growth retardation, medullary stenosis of tubular bones.
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| | colspan="2" |'''Kenny-Caffey syndrome type 2'''<ref name="pmid23996431">{{cite journal |vauthors=Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S |title=A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2 |journal=J. Bone Miner. Res. |volume=29 |issue=4 |pages=992–8 |year=2014 |pmid=23996431 |doi=10.1002/jbmr.2091 |url=}}</ref>
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| |[[Autosomal dominant]]
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| |Mutation of “family with sequence similarity 111, member A″ (FAM111A) gene located on chromosome locus 11q12.1
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| * Patients with Kenny-Caffey sundrome type 2 have same clinical features as Kenny-Caffey syndrome type 1 except for mental retardation.
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| | colspan="2" |'''Sanjad-Sakati syndrome'''<ref name="pmid22043344">{{cite journal |vauthors=Rafique B, Al-Yaarubi S |title=Sanjad-Sakati Syndrome in Omani children |journal=Oman Med J |volume=25 |issue=3 |pages=227–9 |year=2010 |pmid=22043344 |pmc=3191633 |doi=10.5001/omj.2010.63 |url=}}</ref>
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| |[[Autosomal recessive]]
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| |Mutation in [[TBCE]] gene.
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| * Sanjad-Sakati syndrome in exclusively found in arabian descent population.
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| * Presents with hypoparathyroidism, [[intellectual disability]], [[Dysmorphic feature|dysmorphism]].
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| | colspan="2" |'''[[Barakat syndrome]]'''<ref name="pmid11389161">{{cite journal |vauthors=Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T |title=GATA3 abnormalities and the phenotypic spectrum of HDR syndrome |journal=J. Med. Genet. |volume=38 |issue=6 |pages=374–80 |year=2001 |pmid=11389161 |pmc=1734904 |doi= |url=}}</ref><ref name="pmid10935639">{{cite journal |vauthors=Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K |title=GATA3 haplo-insufficiency causes human HDR syndrome |journal=Nature |volume=406 |issue=6794 |pages=419–22 |year=2000 |pmid=10935639 |doi=10.1038/35019088 |url=}}</ref>
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| |[[Autosomal recessive]]
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| |[[Mutation|Mutations]] in the [[GATA3]] gene
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| *Also known as hypoparathyroidism, [[deafness]], and renal dysplasia (HDR) syndrome
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| *Presents with primary hypoparathyroidism, nerve [[deafness]], steroid-resistant [[nephrosis]].
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| | rowspan="6" |Metabolic diseases
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| | rowspan="2" |Mitochondiral polyneuropathies<ref name="pmid27716753">{{cite journal |vauthors=Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S |title=Mitochondrial disease and endocrine dysfunction |journal=Nat Rev Endocrinol |volume=13 |issue=2 |pages=92–104 |year=2017 |pmid=27716753 |doi=10.1038/nrendo.2016.151 |url=}}</ref>
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| | colspan="2" |Kearns–Sayre syndrome
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| | Mitochondrial inheritence
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| | mtDNA deletion
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| *Progressive external ophthalmoplegia
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| *Retinitis pigmentosa
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| *Cardiomyopathy,
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| *Heart block
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| | colspan="2" |Maternally inherited diabetes and deafness (MIDD)
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| | Mitochondrial inheritence
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| | MT‑TL1
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| *Diabetes mellitus and deafness
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| | rowspan="2" |Mitochondrial enzyme deficiencies
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| | colspan="2" |Mitochondrial trifunctional protein deficiency (MTP deficiency)<ref name="pmid16523289">{{cite journal |vauthors=Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, de Baulny HO |title=Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency |journal=Eur. J. Pediatr. |volume=165 |issue=6 |pages=389–91 |year=2006 |pmid=16523289 |doi=10.1007/s00431-005-0052-5 |url=}}</ref><ref name="urlmitochondrial trifunctional protein deficiency - Genetics Home Reference">{{cite web |url=https://ghr.nlm.nih.gov/condition/mitochondrial-trifunctional-protein-deficiency |title=mitochondrial trifunctional protein deficiency - Genetics Home Reference |format= |work= |accessdate=}}</ref>
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| | [[Autosomal recessive]]
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| | HADHA or HADHB gene mutation
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| *Clinical features of mitochondrial trifunctional protein deficiency occurring during infancy include feeding difficulties, lethargy, hypoglycemia, hypotonia, and liver problems.
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| *Infants with mitochondrial trifunctional protein deficiency are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death.
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| *Clinical features of mitochondrial trifunctional protein deficiency occurring after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities (peripheral neuropathy).
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| | colspan="2" |Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)<ref name="pmid9403664">{{cite journal |vauthors=Tyni T, Rapola J, Palotie A, Pihko H |title=Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation |journal=J. Pediatr. |volume=131 |issue=5 |pages=766–8 |year=1997 |pmid=9403664 |doi= |url=}}</ref>
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| | [[Autosomal recessive]]
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| | G1528C gene mutation
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| * Hypoglycemia
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| *Hepatopathy
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| *Hypotonia
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| *Cardiomyopathy
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| *Retinopathy
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| | rowspan="2" |Heavy metal storage disorders
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| | colspan="2" |Hemochromatosis<ref name="pmid24741460">{{cite journal |vauthors=Jeong HK, An JH, Kim HS, Cho EA, Han MG, Moon JS, Kim HK, Kang HC |title=Hypoparathyroidism and subclinical hypothyroidism with secondary hemochromatosis |journal=Endocrinol Metab (Seoul) |volume=29 |issue=1 |pages=91–5 |year=2014 |pmid=24741460 |pmc=3970271 |doi=10.3803/EnM.2014.29.1.91 |url=}}</ref><ref name="urlhereditary hemochromatosis - Genetics Home Reference">{{cite web |url=https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis |title=hereditary hemochromatosis - Genetics Home Reference |format= |work= |accessdate=}}</ref>
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| | [[Autosomal recessive]]
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| | HFE gene mutation
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| *Early symptoms of hereditary hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive.
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| *Late stage clinical fearures may include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration.
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| | colspan="2" |Wilson's disease<ref name="pmid6888480">{{cite journal |vauthors=Carpenter TO, Carnes DL, Anast CS |title=Hypoparathyroidism in Wilson's disease |journal=N. Engl. J. Med. |volume=309 |issue=15 |pages=873–7 |year=1983 |pmid=6888480 |doi=10.1056/NEJM198310133091501 |url=}}</ref><ref name="urlWilson disease - Genetics Home Reference">{{cite web |url=https://ghr.nlm.nih.gov/condition/wilson-disease#definition |title=Wilson disease - Genetics Home Reference |format= |work= |accessdate=}}</ref>
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| | [[Autosomal recessive]]
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| | ATP7B gene mutation
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| *Initial features include liver disease in children and young adults.
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| *Initial features include nervous systems and psychiatric problems in adults.
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| *Other clinical features include clumsiness, tremors, difficulty walking, speech problems, impaired thinking ability, depression, anxiety, and mood swings.
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| |}
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| <references />
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