MCID: HYP329
MIFTS: 23

Hypoparathyroidism, Autosomal Dominant malady

Summaries for Hypoparathyroidism, Autosomal Dominant

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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. Related mouse phenotypes are skeleton and endocrine/exocrine gland.

Description from OMIM:46 146200

Aliases & Classifications for Hypoparathyroidism, Autosomal Dominant

About this section
Sources:
46OMIM
See all sources

Aliases & Descriptions:

hypoparathyroidism, autosomal dominant 46


Related Diseases for Hypoparathyroidism, Autosomal Dominant

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Hypoparathyroidism, Autosomal Dominant:



Diseases related to hypoparathyroidism, autosomal dominant

Clinical Features for Hypoparathyroidism, Autosomal Dominant

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

146200

Drugs & Therapeutics for Hypoparathyroidism, Autosomal Dominant

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Hypoparathyroidism, Autosomal Dominant

Drug clinical trials:

Search ClinicalTrials for Hypoparathyroidism, Autosomal Dominant

Search NIH Clinical Center for Hypoparathyroidism, Autosomal Dominant

Search CenterWatch for Hypoparathyroidism, Autosomal Dominant

Genetic Tests for Hypoparathyroidism, Autosomal Dominant

About this section

Anatomical Context for Hypoparathyroidism, Autosomal Dominant

About this section

Animal Models for Hypoparathyroidism, Autosomal Dominant or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Hypoparathyroidism, Autosomal Dominant:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5PTH, CASR, GCM2
2MP:00053798.2PTH, CASR, GCM2

Publications for Hypoparathyroidism, Autosomal Dominant

About this section

Genetic Variations for Hypoparathyroidism, Autosomal Dominant

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hypoparathyroidism, Autosomal Dominant:

62
id Symbol AA change Variation ID SNP ID
1GCM2p.Arg47LeuVAR_058044
2GCM2p.Gly63SerVAR_058045
3GCM2p.Arg110TrpVAR_065495
4GCM2p.Asn502HisVAR_065498
5PTHp.Cys18ArgVAR_006047
6PTHp.Ser23ProVAR_018464

Expression for genes affiliated with Hypoparathyroidism, Autosomal Dominant

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Hypoparathyroidism, Autosomal Dominant

About this section
Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 24HMDB
See all sources

Compounds related to Hypoparathyroidism, Autosomal Dominant according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1pamidronate44 49 1111.6PTH, CASR
225-hydroxyvitamin d449.6PTH, CASR
3phosphorus449.5CASR, PTH
41,25 dihydroxy vitamin d3449.5PTH, CASR
5inositol 1,4,5 trisphosphate449.5PTH, CASR
6calcitriol44 59 11 2412.4CASR, PTH
7ribonucleic acid449.4PTH, CASR
8vitamin d449.3PTH, CASR
9potassium44 11 2411.2CASR, PTH
10forskolin44 49 1111.0PTH, CASR
11calcium44 49 11 2411.5PTH, CASR, GCM2

GO Terms for genes affiliated with Hypoparathyroidism, Autosomal Dominant

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypoparathyroidism, Autosomal Dominant

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet