MCID: HYP329
MIFTS: 21

Hypoparathyroidism, Autosomal Dominant malady

Summaries for Hypoparathyroidism, Autosomal Dominant

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47OMIM, 33MalaCards
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MalaCards: Hypoparathyroidism, Autosomal Dominant is related to hypoparathyroidism and gastrinoma. An important gene associated with Hypoparathyroidism, Autosomal Dominant is PTH (parathyroid hormone). The compounds pamidronate and 25-hydroxyvitamin d have been mentioned in the context of this disorder. Affiliated tissues include b cells, and related mouse phenotypes are skeleton and endocrine/exocrine gland.

Description from OMIM:47 146200

Aliases & Classifications for Hypoparathyroidism, Autosomal Dominant

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47OMIM
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Aliases & Descriptions:

hypoparathyroidism, autosomal dominant 47


Related Diseases for Hypoparathyroidism, Autosomal Dominant

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hypoparathyroidism, Autosomal Dominant:



Diseases related to hypoparathyroidism, autosomal dominant

Clinical Features for Hypoparathyroidism, Autosomal Dominant

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47OMIM
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Clinical features from OMIM:

146200

Drugs & Therapeutics for Hypoparathyroidism, Autosomal Dominant

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Hypoparathyroidism, Autosomal Dominant

Genetic Tests for Hypoparathyroidism, Autosomal Dominant

Anatomical Context for Hypoparathyroidism, Autosomal Dominant

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33MalaCards
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MalaCards organs/tissues related to Hypoparathyroidism, Autosomal Dominant:

33
B cells

Animal Models for Hypoparathyroidism, Autosomal Dominant or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Hypoparathyroidism, Autosomal Dominant:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5PTH, CASR, GCM2
2MP:00053798.2PTH, CASR, GCM2

Publications for Hypoparathyroidism, Autosomal Dominant

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51PubMed
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Articles related to Hypoparathyroidism, Autosomal Dominant:

(show all 13)
idTitleAuthorsYear
1
Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism. (22066718)
2012
2
A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism. (20463099)
2010
3
Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism. (18712808)
2009
4
Autosomal dominant hypoparathyroidism with severe hypomagnesemia and hypocalcemia, successfully treated with recombinant PTH and continuous subcutaneous magnesium infusion. (18556971)
2008
5
Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. (18583467)
2008
6
Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone. (18056632)
2007
7
Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. (10487661)
1999
8
Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia. (9916869)
1998
9
Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. (8733126)
1996
10
The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism. (8698326)
1996
11
Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13. (7808841)
1994
12
Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. (1522843)
1992
13
Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus. (6278146)
1981

Genetic Variations for Hypoparathyroidism, Autosomal Dominant

Expression for genes affiliated with Hypoparathyroidism, Autosomal Dominant

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypoparathyroidism, Autosomal Dominant

Search GEO for disease gene expression data for Hypoparathyroidism, Autosomal Dominant.

Pathways for genes affiliated with Hypoparathyroidism, Autosomal Dominant

Compounds for genes affiliated with Hypoparathyroidism, Autosomal Dominant

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 24HMDB
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Compounds related to Hypoparathyroidism, Autosomal Dominant according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1pamidronate45 50 1111.6PTH, CASR
225-hydroxyvitamin d459.6PTH, CASR
3phosphorus459.5CASR, PTH
41,25 dihydroxy vitamin d3459.5PTH, CASR
5inositol 1,4,5 trisphosphate459.5PTH, CASR
6calcitriol45 60 11 2412.4CASR, PTH
7ribonucleic acid459.4PTH, CASR
8vitamin d459.3PTH, CASR
9potassium45 11 2411.2CASR, PTH
10forskolin45 50 1111.0PTH, CASR
11calcium45 50 11 2411.5PTH, CASR, GCM2

GO Terms for genes affiliated with Hypoparathyroidism, Autosomal Dominant

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16Gene Ontology
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Biological processes related to Hypoparathyroidism, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled receptor signaling pathwayGO:0071869.3PTH, CASR
2cellular calcium ion homeostasisGO:0068748.2PTH, CASR, GCM2

Products for genes affiliated with Hypoparathyroidism, Autosomal Dominant

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Sources for Hypoparathyroidism, Autosomal Dominant

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet