MCID: HYP329
MIFTS: 16

Hypoparathyroidism, Autosomal Dominant malady

Genetic diseases (common) category
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Summaries for Hypoparathyroidism, Autosomal Dominant

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47OMIM, 33MalaCards
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MalaCards: 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:47 146200

Aliases & Classifications for Hypoparathyroidism, Autosomal Dominant

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47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

hypoparathyroidism, autosomal dominant 47


Related Diseases for Hypoparathyroidism, Autosomal Dominant

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17GeneCards, 18GeneDecks
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Diseases in the Hypoparathyroidism, Autosomal Recessive family:

hypoparathyroidism, autosomal dominant

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

idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism30.5PTH, GCM2
2hypoparathyroidism familial isolated10.0GCM2, PTH
3adenoma10.0GCM2, PTH
4primary hyperparathyroidism10.0GCM2, PTH
5osteoporosis9.9GCM2, PTH

Graphical network of diseases related to Hypoparathyroidism, Autosomal Dominant:



Diseases related to hypoparathyroidism, autosomal dominant

Symptoms 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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hypoparathyroidism, Autosomal Dominant

Search NIH Clinical Center for Hypoparathyroidism, Autosomal Dominant

Genetic Tests for Hypoparathyroidism, Autosomal Dominant

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Anatomical Context for Hypoparathyroidism, Autosomal Dominant

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Animal Models for Hypoparathyroidism, Autosomal Dominant or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hypoparathyroidism, Autosomal Dominant:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.1GCM2, PTH
2MP:00053829.0GCM2, PTH
3MP:00053798.8GCM2, PTH

Publications for Hypoparathyroidism, Autosomal Dominant

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Variations for Hypoparathyroidism, Autosomal Dominant

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hypoparathyroidism, Autosomal Dominant:

64
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:

1
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
4GCM2GCM2, EX1-4DELdeletionPathogenic
5GCM2NM_004752.3(GCM2): c.140G> T (p.Arg47Leu)single nucleotide variantPathogenicrs104893959GRCh37Chr 6, 10877576: 10877576
6GCM2NM_004752.3(GCM2): c.187G> A (p.Gly63Ser)single nucleotide variantPathogenicrs104893960GRCh37Chr 6, 10877529: 10877529

Expression for genes affiliated with Hypoparathyroidism, Autosomal Dominant

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypoparathyroidism, Autosomal Dominant

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Pathways for genes affiliated with Hypoparathyroidism, Autosomal Dominant

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Compounds for genes affiliated with Hypoparathyroidism, Autosomal Dominant

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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
1cellular calcium ion homeostasisGO:0068749.1GCM2, PTH

Products for genes affiliated with Hypoparathyroidism, Autosomal Dominant

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypoparathyroidism, Autosomal Dominant

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet