MCID: ATM068
MIFTS: 25

Autoimmune Hypoparathyroidism malady

Endocrine category

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 acth have been mentioned in the context of this disorder. Affiliated tissues include liver, thyroid and endothelial, and related mouse phenotype mortality/aging.

Aliases & Classifications for Autoimmune Hypoparathyroidism

Sources:
49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

autoimmune hypoparathyroidism 49 61


External Ids:

ICD10 via Orphanet26 E20.8
SNOMED-CT via Orphanet58 75316000
UMLS via Orphanet62 C0271865

Related Diseases for Autoimmune Hypoparathyroidism

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

Drugs & Therapeutics for Autoimmune Hypoparathyroidism

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Autoimmune Hypoparathyroidism

Sources:
33MalaCards
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MalaCards organs/tissues related to Autoimmune Hypoparathyroidism:

33
Liver, Thyroid, Endothelial

Animal Models for Autoimmune Hypoparathyroidism or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Autoimmune Hypoparathyroidism:

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

Publications for Autoimmune Hypoparathyroidism

Sources:
51PubMed
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Articles related to Autoimmune Hypoparathyroidism:

(show all 21)
idTitleAuthorsYear
1
Polyglandular Autoimmune Syndrome Type III with Primary Hypoparathyroidism. (24396685)
2013
2
Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report. (23565477)
2012
3
Challenges in management of primary hypoparathyroidism associated with autoimmune polyglandular syndrome type 1. (22937280)
2011
4
Autoimmune hypoparathyroidism associated with pulmonary tuberculosis. (20605844)
2011
5
Anti-parathyroid and anti-calcium sensing receptor antibodies in autoimmune hypoparathyroidism. (19328421)
2009
6
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. (19626344)
2009
7
Hereditary long QT syndrome due to autoimmune hypoparathyroidism in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. (17289071)
2007
8
Hypoparathyroidism associated with autoimmune disorder]. (17660615)
2007
9
Celiac disease occurring in a patient with hypoparathyroidism and autoimmune thyroid disease. (16553106)
2006
10
Hypoparathyroidism and autoimmune polyendocrine syndromes. (15342816)
2004
11
Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism. (14764760)
2004
12
The hypoparathyroidism of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protective effect of male sex. (14557429)
2003
13
Graves' disease coexisting with probable autoimmune hypoparathyroidism. (14520606)
2003
14
Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34. (11571675)
2001
15
A rapidly progressive cataract in a patient with autoimmune hypoparathyroidism and acute liver and renal failure. (10460947)
1999
16
Antibodies targeting the calcium sensing receptor: acquired hypoparathyroidism--an autoimmune disease at last? (8810727)
1996
17
Serum striated muscle enzymes in autoimmune hypoparathyroidism]. (8253399)
1993
18
Dental manifestations of autoimmune hypoparathyroidism. (8464608)
1993
19
Autoimmune hypoparathyroidism and hyper-CK-emia. (2064002)
1991
20
Anti-endothelial cell antibodies: detection and characterization in sera from patients with autoimmune hypoparathyroidism. (3287382)
1988
21
Antibodies cytotoxic to bovine parathyroid cells in autoimmune hypoparathyroidism. (3534888)
1986

Genetic Variations for Autoimmune Hypoparathyroidism

Expression for genes affiliated with Autoimmune Hypoparathyroidism

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

Sources:
50PharmGKB
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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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Autoimmune Hypoparathyroidism according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1phosphorus459.5PIK3C2A, CASR
2acth459.3PIK3C2A, CASR
3cpccoet45 2910.3PRKAR1A, CASR
4gadolinium459.3PRKAR1A, CASR
5cinacalcet45 29 1111.2PRKAR1A, CASR
6l-amino acid459.2CASR, PRKAR1A
7neomycin459.1CASR, PRKAR1A
8magnesium45 11 2410.6PRKAR1A, PIK3C2A, CASR
9arginine458.5PRKAR1A, PIK3C2A, CASR
10glutamate458.4CASR, PIK3C2A, PRKAR1A
11glucose458.2PRKAR1A, PIK3C2A, CASR

GO Terms for genes affiliated with Autoimmune Hypoparathyroidism

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autoimmune Hypoparathyroidism

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet