MCID: ATM068
MIFTS: 30

Autoimmune Hypoparathyroidism malady

Endocrine diseases, Rare diseases, Immune diseases categories

Summaries for Autoimmune Hypoparathyroidism

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34MalaCards
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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 cpccoet have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and endothelial, and related mouse phenotype mortality/aging.

Aliases & Classifications for Autoimmune Hypoparathyroidism

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Sources:
50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

autoimmune hypoparathyroidism 50 63


External Ids:

ICD10 via Orphanet27 E20.8
SNOMED-CT via Orphanet60 75316000
UMLS via Orphanet64 C0271865

Related Diseases for Autoimmune Hypoparathyroidism

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Autoimmune Hypoparathyroidism:



Diseases related to autoimmune hypoparathyroidism

Symptoms for Autoimmune Hypoparathyroidism

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Drugs & Therapeutics for Autoimmune Hypoparathyroidism

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Sources:
34MalaCards
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MalaCards organs/tissues related to Autoimmune Hypoparathyroidism:

34
Bone, Liver, Endothelial

Animal Models for Autoimmune Hypoparathyroidism or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Autoimmune Hypoparathyroidism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0RMRP, CASR, PRKAR1A, PIK3C2A

Publications for Autoimmune Hypoparathyroidism

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53PubMed
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Articles related to Autoimmune Hypoparathyroidism:

(show all 13)
idTitleAuthorsYear
1
Autoimmune hypoparathyroidism associated with pulmonary tuberculosis. (20605844)
2011
2
Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. (19328421)
2009
3
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. (19626344)
2009
4
Hereditary long QT syndrome due to autoimmune hypoparathyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. (17289071)
2007
5
Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism. (14764760)
2004
6
Graves' disease coexisting with probable autoimmune hypoparathyroidism. (14520606)
2003
7
Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34. (11571675)
2001
8
A rapidly progressive cataract in a patient with autoimmune hypoparathyroidism and acute liver and renal failure. (10460947)
1999
9
Serum striated muscle enzymes in autoimmune hypoparathyroidism]. (8253399)
1993
10
Dental manifestations of autoimmune hypoparathyroidism. (8464608)
1993
11
Autoimmune hypoparathyroidism and hyper-CK-emia. (2064002)
1991
12
Anti-endothelial cell antibodies: detection and characterization in sera from patients with autoimmune hypoparathyroidism. (3287382)
1988
13
Antibodies cytotoxic to bovine parathyroid cells in autoimmune hypoparathyroidism. (3534888)
1986

Variations for Autoimmune Hypoparathyroidism

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Expression for genes affiliated with Autoimmune Hypoparathyroidism

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Sources:
2BioGPS, 16Gene 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:
51PathCards, 52PharmGKB
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Pathways related to Autoimmune Hypoparathyroidism according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Autoimmune Hypoparathyroidism

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Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 25HMDB
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Compounds related to Autoimmune Hypoparathyroidism according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1phosphorus469.5CASR, PIK3C2A
2cpccoet46 3010.3PRKAR1A, CASR
3gadolinium469.3PRKAR1A, CASR
4cinacalcet46 30 1211.3PRKAR1A, CASR
5l-amino acid469.2CASR, PRKAR1A
6neomycin469.1PRKAR1A, CASR
7vitamin d469.0CASR, PRKAR1A
8acth469.0PIK3C2A, CASR
9magnesium46 25 1210.7PIK3C2A, PRKAR1A, CASR
10arginine468.6PRKAR1A, PIK3C2A, CASR
11glutamate468.5PRKAR1A, CASR, PIK3C2A
12glucose468.4CASR, PIK3C2A, PRKAR1A

GO Terms for genes affiliated with Autoimmune Hypoparathyroidism

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Sources:
17Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet