MCID: ATM068
MIFTS: 21

Autoimmune Hypoparathyroidism malady

Endocrine diseases category

Summaries for Autoimmune Hypoparathyroidism

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Sources:
32MalaCards
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MalaCards: Autoimmune Hypoparathyroidism is related to hypoparathyroidism and osteoporosis. An important gene associated with Autoimmune Hypoparathyroidism is RMRP (RNA component of mitochondrial RNA processing endoribonuclease), and among its related pathways is Proton Pump Inhibitor Pathway, Pharmacodynamics. The compounds phosphorus and acth have been mentioned in the context of this disorder. Related mouse phenotype mortality/aging.

Aliases & Classifications for Autoimmune Hypoparathyroidism

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Sources:
48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine diseases


Aliases & Descriptions:

autoimmune hypoparathyroidism 48 60


External Ids:

ICD10 via Orphanet26 E20.8
SNOMED-CT via Orphanet57 75316000
UMLS via Orphanet61 C0271865

Related Diseases for Autoimmune Hypoparathyroidism

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



Diseases related to autoimmune hypoparathyroidism

Clinical Features for Autoimmune Hypoparathyroidism

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Drugs & Therapeutics for Autoimmune Hypoparathyroidism

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Autoimmune Hypoparathyroidism

Drug clinical trials:

Search ClinicalTrials for Autoimmune Hypoparathyroidism

Search NIH Clinical Center for Autoimmune Hypoparathyroidism

Search CenterWatch for Autoimmune Hypoparathyroidism

Genetic Tests for Autoimmune Hypoparathyroidism

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Anatomical Context for Autoimmune Hypoparathyroidism

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Animal Models for Autoimmune Hypoparathyroidism or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Autoimmune Hypoparathyroidism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0RMRP, PRKAR1A, PIK3C2A, CASR

Publications for Autoimmune Hypoparathyroidism

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Genetic Variations for Autoimmune Hypoparathyroidism

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Expression for genes affiliated with Autoimmune Hypoparathyroidism

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autoimmune Hypoparathyroidism

Search GEO for disease gene expression data for Autoimmune Hypoparathyroidism.

Pathways for genes affiliated with Autoimmune Hypoparathyroidism

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Sources:
49PharmGKB
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Pathways related to Autoimmune Hypoparathyroidism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PIK3C2A, CASR

Compounds for genes affiliated with Autoimmune Hypoparathyroidism

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Autoimmune Hypoparathyroidism according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1phosphorus449.5PIK3C2A, CASR
2acth449.3CASR, PIK3C2A
3cpccoet44 2810.3CASR, PRKAR1A
4cinacalcet44 28 1111.3CASR, PRKAR1A
5gadolinium449.2CASR, PRKAR1A
6l-amino acid449.2PRKAR1A, CASR
7neomycin449.1CASR, PRKAR1A
8magnesium44 11 2410.6CASR, PIK3C2A, PRKAR1A
9arginine448.5PIK3C2A, CASR, PRKAR1A
10glutamate448.4CASR, PIK3C2A, PRKAR1A
11glucose448.2PIK3C2A, CASR, PRKAR1A

GO Terms for genes affiliated with Autoimmune Hypoparathyroidism

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Sources:
16Gene Ontology
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Biological processes related to Autoimmune Hypoparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1epidermal growth factor receptor signaling pathwayGO:0071739.1PRKAR1A, PIK3C2A

Products for genes affiliated with Autoimmune Hypoparathyroidism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autoimmune Hypoparathyroidism

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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