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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33MalaCards
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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:
49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS 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 49 62


External Ids:

ICD10 via Orphanet26 E20.8
SNOMED-CT via Orphanet59 75316000
UMLS via Orphanet63 C0271865

Related Diseases for Autoimmune Hypoparathyroidism

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17GeneCards, 18GeneDecks
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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:
42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Autoimmune Hypoparathyroidism:

33
Bone, Liver, Endothelial

Animal Models for Autoimmune Hypoparathyroidism or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Autoimmune Hypoparathyroidism:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0RMRP, CASR, PRKAR1A, PIK3C2A

Publications for Autoimmune Hypoparathyroidism

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52PubMed
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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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2BioGPS, 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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50PathCards, 51PharmGKB
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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:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Autoimmune Hypoparathyroidism according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1phosphorus459.5CASR, PIK3C2A
2cpccoet45 2910.3PRKAR1A, CASR
3gadolinium459.3PRKAR1A, CASR
4cinacalcet45 29 1111.3PRKAR1A, CASR
5l-amino acid459.2CASR, PRKAR1A
6neomycin459.1PRKAR1A, CASR
7vitamin d459.0CASR, PRKAR1A
8acth459.0PIK3C2A, CASR
9magnesium45 24 1110.7PIK3C2A, PRKAR1A, CASR
10arginine458.6PRKAR1A, PIK3C2A, CASR
11glutamate458.5PRKAR1A, CASR, PIK3C2A
12glucose458.4CASR, PIK3C2A, PRKAR1A

GO Terms for genes affiliated with Autoimmune Hypoparathyroidism

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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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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