MCID: HYP329
MIFTS: 17

Hypoparathyroidism, Autosomal Dominant malady

Genetic diseases, Rare diseases, Endocrine diseases, Immune diseases categories

Summaries for Hypoparathyroidism, Autosomal Dominant

About this section


MalaCards based summary: Hypoparathyroidism, Autosomal Dominant is related to hypoparathyroidism and hypoparathyroidism familial isolated. An important gene associated with Hypoparathyroidism, Autosomal Dominant is PTH (parathyroid hormone). Related mouse phenotypes are skeleton and craniofacial.

Description from OMIM:46 146200

Aliases & Classifications for Hypoparathyroidism, Autosomal Dominant

About this section

Hypoparathyroidism, Autosomal Dominant, Aliases & Descriptions:

Name: Hypoparathyroidism, Autosomal Dominant 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases, Immune diseases


Related Diseases for Hypoparathyroidism, Autosomal Dominant

About this section

Diseases in the Hypoparathyroidism family:

hypoparathyroidism, autosomal dominant Hypoparathyroidism, Autosomal Recessive
Autoimmune Hypoparathyroidism

Diseases related to Hypoparathyroidism, Autosomal Dominant via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism30.4GCM2, PTH
2hypoparathyroidism familial isolated9.9PTH, GCM2
3adenoma9.9PTH, GCM2
4primary hyperparathyroidism9.8PTH, GCM2
5osteoporosis9.8GCM2, PTH

Graphical network of diseases related to Hypoparathyroidism, Autosomal Dominant:



Diseases related to hypoparathyroidism, autosomal dominant

Symptoms for Hypoparathyroidism, Autosomal Dominant

About this section


Clinical features from OMIM:

146200

Drugs & Therapeutics for Hypoparathyroidism, Autosomal Dominant

About this section

Drug clinical trials:

Search ClinicalTrials for Hypoparathyroidism, Autosomal Dominant

Search NIH Clinical Center 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

MGI Mouse Phenotypes related to Hypoparathyroidism, Autosomal Dominant:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.1GCM2, PTH
2MP:00053829.0GCM2, PTH
3MP:00053798.8GCM2, PTH

Publications for Hypoparathyroidism, Autosomal Dominant

About this section

Variations for Hypoparathyroidism, Autosomal Dominant

About this section

UniProtKB/Swiss-Prot genetic disease variations for Hypoparathyroidism, Autosomal Dominant:

63
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

Clinvar genetic disease variations for Hypoparathyroidism, Autosomal Dominant:

7
id Gene Name Type Significance SNP ID Assembly Location
1PTHNM_000315.2(PTH): c.52T> C (p.Cys18Arg)single nucleotide variantPathogenicrs104894271GRCh37Chr 11, 13514351: 13514351
2PTHPTH, IVS2DS, G-C, +1, EX2DELdeletionPathogenic
3PTHNM_000315.2(PTH): c.67T> C (p.Ser23Pro)single nucleotide variantPathogenicrs104894272GRCh37Chr 11, 13514336: 13514336
4CASRNM_000388.3(CASR): c.1934C> A (p.Ala645Asp)single nucleotide variantLikely pathogenicrs193922430GRCh37Chr 3, 122002735: 122002735
5GCM2GCM2, EX1-4DELdeletionPathogenic
6GCM2NM_004752.3(GCM2): c.140G> T (p.Arg47Leu)single nucleotide variantPathogenicrs104893959GRCh37Chr 6, 10877576: 10877576
7GCM2NM_004752.3(GCM2): c.187G> A (p.Gly63Ser)single nucleotide variantPathogenicrs104893960GRCh37Chr 6, 10877529: 10877529

Expression for genes affiliated with Hypoparathyroidism, Autosomal Dominant

About this section
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

GO Terms for genes affiliated with Hypoparathyroidism, Autosomal Dominant

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cellular calcium ion homeostasisGO:0068749.1GCM2, PTH

Products for genes affiliated with Hypoparathyroidism, Autosomal Dominant

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hypoparathyroidism, Autosomal Dominant

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet