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!Clinical features
!Clinical features
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| colspan="4" |Autoimmune
| colspan="3" |Autoimmune
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| rowspan="6" |Isolated
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|Familial Isolated hypoparathyroidism
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| rowspan="2" |Autosomal dominant
|PTH gene<ref name="pmid2212001">{{cite journal |vauthors=Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM |title=Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism |journal=J. Clin. Invest. |volume=86 |issue=4 |pages=1084–7 |year=1990 |pmid=2212001 |pmc=296835 |doi=10.1172/JCI114811 |url=}}</ref>
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|[[GCM2]] gene<ref name="pmid18712808">{{cite journal |vauthors=Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN |title=Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |journal=Hum. Mutat. |volume=30 |issue=1 |pages=85–92 |year=2009 |pmid=18712808 |doi=10.1002/humu.20827 |url=}}</ref>
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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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| rowspan="2" |Autosomal recessive
|PTH gene
|PTH gene
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|[[GCM2]] gene
|[[GCM2]] gene
|[[Dominant negative mutation]]
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| rowspan="2" |[[Autosomal recessive]]
|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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|X-linked
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|[[X-linked]]
|[[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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|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>
| rowspan="2" |Autosomal dominant hypercalcemia
|Autosomal dominant hypocalcemia type 1
|Autosomal dominant hypocalcemia type 1
|[[Autosomal dominant]]
|G protein G11 (GNA11) 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.
*The activating mutation results in gain in function.
*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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|Autosomal dominant hypocalcemia type 2
|Autosomal dominant hypocalcemia type 2
|[[Autosomal dominant]]
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|G protein G11 (GNA11) mutation
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| colspan="2" rowspan="6" |Congenital multisystem syndromes
| rowspan="6" |Congenital multisystem syndromes
|'''[[DiGeorge syndrome]]'''
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|'''[[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]]
|[[22q11.2 deletion syndrome|22q11.2 deletion]].
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* Presents with [[thymus]] [[dysfunction]], [[cardiac]] defects, [[immunodeficiency]], [[hypocalcemia]], and other clinical problems.
*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.
*[[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]].
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|'''[[CHARGE syndrome]]'''
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|[[Autosomal dominant]]
|'''[[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>
|CHD7 G744S [[missense mutation]]
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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]].
|-
|-
|'''Kenny-Caffey syndrome type 1'''
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|[[Autosomal recessive]]
|'''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>
|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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|'''Kenny-Caffey syndrome type 2'''
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|[[Autosomal dominant]]
|'''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>
|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.
|-
|-
|'''Sanjad-Sakati syndrome'''
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|[[Autosomal recessive]]
|'''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>
|Mutation in [[TBCE]] gene.
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* Sanjad-Sakati syndrome in exclusively found in arabian descent population.
* Presents with hypoparathyroidism, [[intellectual disability]], [[Dysmorphic feature|dysmorphism]].
|-
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|'''[[Barakat syndrome]]'''
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|[[Autosomal recessive]]
|'''[[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>
|[[Mutation|Mutations]] in the [[GATA3]] gene
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*Also known as hypoparathyroidism, [[deafness]], and renal dysplasia (HDR) syndrome
*Presents with primary hypoparathyroidism, nerve [[deafness]], steroid-resistant [[nephrosis]].
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| rowspan="6" |Metabolic diseases
| rowspan="6" |Metabolic diseases
| rowspan="2" |Mitochondiral polyneuropathies
| 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>
|Kearns–Sayre syndrome
|Kearns–Sayre syndrome
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| rowspan="2" |Mitochondrial enzyme deficiencies
| rowspan="2" |Mitochondrial enzyme deficiencies
|Mitochondrial trifunctional protein deficiency (MTP deficiency)
|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>
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|Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)
|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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| rowspan="2" |Heavy metal storage disorders
| rowspan="2" |Heavy metal storage disorders
|Hemochromatosis
|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>
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|Wilson's disease
|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>
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Revision as of 17:45, 29 September 2017

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Hypercalcemia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Related to Parathyroid gland
 
 
 
 
 
 
 
 
 
 
 
Unrelated to parathyroid gland
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Primary hyperparathyroidism
 
 
Secondary hyperparathyroidism
 
 
Tertiary hyperparathyroidism
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Typical primary hyperparathyroidism
 
Familial hypocalciuric hypercalcemia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Malignancy
 
 
 
 
 
Medication induced
 
 
 
Nutritional
 
 
 
 
Granulomatous disease
 
 
Surgical
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Para-neoplastic syndrome: Parathyroid hormone related peptide
 
Metaplasia: Hypercalcemia due to bone destruction
 
Thiazide diuretics
 
Lithium
 
Milk alkali syndrome
 
Vitamin D toxicity
 
Sarcoidosis
 
 
Immobilization
 

Differential diagnosis

Hypoparathyroidism Inheritance Gene mutation Clinical features
Autoimmune
Isolated Familial Isolated hypoparathyroidism Autosomal dominant PTH gene[1]
GCM2 gene[2]
Autosomal recessive PTH gene
GCM2 gene
X-linked
Autosomal dominant hypercalcemia[3] Autosomal dominant hypocalcemia type 1
Autosomal dominant hypocalcemia type 2
Congenital multisystem syndromes DiGeorge syndrome[4]
CHARGE syndrome[5]
Kenny-Caffey syndrome type 1[6]
Kenny-Caffey syndrome type 2[7]
Sanjad-Sakati syndrome[8]
Barakat syndrome[9][10]
Metabolic diseases Mitochondiral polyneuropathies[11] Kearns–Sayre syndrome
Maternally inherited diabetes and deafness (MIDD)
Mitochondrial enzyme deficiencies Mitochondrial trifunctional protein deficiency (MTP deficiency)[12]
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)[13]
Heavy metal storage disorders Hemochromatosis[14]
Wilson's disease[15]
  1. ↑ Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM (1990). "Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism". J. Clin. Invest. 86 (4): 1084–7. doi:10.1172/JCI114811. PMC 296835. PMID 2212001.
  2. ↑ Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN (2009). "Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism". Hum. Mutat. 30 (1): 85–92. doi:10.1002/humu.20827. PMID 18712808.
  3. ↑ Roszko KL, Bi RD, Mannstadt M (2016). "Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2". Front Physiol. 7: 458. doi:10.3389/fphys.2016.00458. PMC 5067375. PMID 27803672.
  4. ↑ Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM (2010). "DiGeorge Syndrome: a not so rare disease". Clinics (Sao Paulo). 65 (9): 865–9. PMC 2954737. PMID 21049214.
  5. ↑ Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E (2011). "Unique phenotype in a patient with CHARGE syndrome". Int J Pediatr Endocrinol. 2011: 11. doi:10.1186/1687-9856-2011-11. PMC 3216247. PMID 21995344.
  6. ↑ Metwalley KA, Farghaly HS (2012). "Kenny-Caffey syndrome type 1 in an Egyptian girl". Indian J Endocrinol Metab. 16 (5): 827–9. doi:10.4103/2230-8210.100645. PMC 3475915. PMID 23087875.
  7. ↑ 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 (2014). "A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2". J. Bone Miner. Res. 29 (4): 992–8. doi:10.1002/jbmr.2091. PMID 23996431.
  8. ↑ Rafique B, Al-Yaarubi S (2010). "Sanjad-Sakati Syndrome in Omani children". Oman Med J. 25 (3): 227–9. doi:10.5001/omj.2010.63. PMC 3191633. PMID 22043344.
  9. ↑ Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T (2001). "GATA3 abnormalities and the phenotypic spectrum of HDR syndrome". J. Med. Genet. 38 (6): 374–80. PMC 1734904. PMID 11389161.
  10. ↑ 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 (2000). "GATA3 haplo-insufficiency causes human HDR syndrome". Nature. 406 (6794): 419–22. doi:10.1038/35019088. PMID 10935639.
  11. ↑ Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S (2017). "Mitochondrial disease and endocrine dysfunction". Nat Rev Endocrinol. 13 (2): 92–104. doi:10.1038/nrendo.2016.151. PMID 27716753.
  12. ↑ Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, de Baulny HO (2006). "Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency". Eur. J. Pediatr. 165 (6): 389–91. doi:10.1007/s00431-005-0052-5. PMID 16523289.
  13. ↑ Tyni T, Rapola J, Palotie A, Pihko H (1997). "Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation". J. Pediatr. 131 (5): 766–8. PMID 9403664.
  14. ↑ Jeong HK, An JH, Kim HS, Cho EA, Han MG, Moon JS, Kim HK, Kang HC (2014). "Hypoparathyroidism and subclinical hypothyroidism with secondary hemochromatosis". Endocrinol Metab (Seoul). 29 (1): 91–5. doi:10.3803/EnM.2014.29.1.91. PMC 3970271. PMID 24741460.
  15. ↑ Carpenter TO, Carnes DL, Anast CS (1983). "Hypoparathyroidism in Wilson's disease". N. Engl. J. Med. 309 (15): 873–7. doi:10.1056/NEJM198310133091501. PMID 6888480.
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