MCID: ATM068
MIFTS: 30

Autoimmune Hypoparathyroidism malady

Endocrine diseases, Rare diseases, Immune diseases categories
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Summaries for Autoimmune Hypoparathyroidism

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MalaCards based summary: 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:
48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Autoimmune Hypoparathyroidism, Aliases & Descriptions:

Name: Autoimmune Hypoparathyroidism 48 62


Classifications:

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


External Ids:

ICD10 via Orphanet26 E20.8
UMLS via Orphanet63 C0271865

Related Diseases for Autoimmune Hypoparathyroidism

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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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Drug clinical trials:

Search ClinicalTrials for Autoimmune Hypoparathyroidism

Search NIH Clinical Center for Autoimmune Hypoparathyroidism

Genetic Tests for Autoimmune Hypoparathyroidism

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Anatomical Context for Autoimmune Hypoparathyroidism

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MalaCards organs/tissues related to Autoimmune Hypoparathyroidism:

32
Bone, Liver, Endothelial

Animal Models for Autoimmune Hypoparathyroidism or affiliated genes

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MGI Mouse Phenotypes related to Autoimmune Hypoparathyroidism:

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

Publications for Autoimmune Hypoparathyroidism

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

(show all 12)
idCompoundScoreTop Affiliating Genes
1phosphorus449.5CASR, PIK3C2A
2cpccoet44 2810.3CASR, PRKAR1A
3cinacalcet44 28 1111.3CASR, PRKAR1A
4gadolinium449.3CASR, PRKAR1A
5l-amino acid449.2PRKAR1A, CASR
6neomycin449.1PRKAR1A, CASR
7vitamin d449.0CASR, PRKAR1A
8acth449.0CASR, PIK3C2A
9magnesium44 24 1110.7CASR, PRKAR1A, PIK3C2A
10arginine448.6CASR, PRKAR1A, PIK3C2A
11glutamate448.5CASR, PRKAR1A, PIK3C2A
12glucose448.4PIK3C2A, PRKAR1A, CASR

GO Terms for genes affiliated with Autoimmune Hypoparathyroidism

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet