MCID: ATM001
MIFTS: 22

Autoimmune Polyendocrine Syndrome Type 2 malady

Categories: Genetic diseases, Endocrine diseases, Immune diseases, Rare diseases, Reproductive diseases, Blood diseases

Aliases & Classifications for Autoimmune Polyendocrine Syndrome Type 2

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Aliases & Descriptions for Autoimmune Polyendocrine Syndrome Type 2:

Name: Autoimmune Polyendocrine Syndrome Type 2 10 12
Autoimmune Syndrome Type Ii, Polyglandular 65
 
Schmidt Syndrome 10

Classifications:



External Ids:

Disease Ontology10 DOID:0050168
UMLS65 C0085860

Summaries for Autoimmune Polyendocrine Syndrome Type 2

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Disease Ontology:10 An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene.

MalaCards based summary: Autoimmune Polyendocrine Syndrome Type 2, also known as autoimmune syndrome type ii, polyglandular, is related to bork stender schmidt syndrome and autoimmune polyglandular syndrome type 2. An important gene associated with Autoimmune Polyendocrine Syndrome Type 2 is AIRE (Autoimmune Regulator). Related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Wikipedia:68 Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as... more...

Related Diseases for Autoimmune Polyendocrine Syndrome Type 2

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Graphical network of the top 20 diseases related to Autoimmune Polyendocrine Syndrome Type 2:



Diseases related to autoimmune polyendocrine syndrome type 2

Symptoms for Autoimmune Polyendocrine Syndrome Type 2

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Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome Type 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Autoimmune Polyendocrine Syndrome Type 2

Genetic Tests for Autoimmune Polyendocrine Syndrome Type 2

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Anatomical Context for Autoimmune Polyendocrine Syndrome Type 2

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Animal Models for Autoimmune Polyendocrine Syndrome Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome Type 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.2AES, AIRE, FMR1, FOXP3
2MP:00053797.8AES, AIRE, FMR1, FOXP3, POMC
3MP:00053867.6AES, AIRE, FMR1, FOXP3, POMC
4MP:00053787.6AES, AIRE, FMR1, FOXP3, POMC

Publications for Autoimmune Polyendocrine Syndrome Type 2

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Articles related to Autoimmune Polyendocrine Syndrome Type 2:

idTitleAuthorsYear
1
A thirty-four-year-old woman with chronic dyspnea and pulmonary interlobular septal thickening. Erdheim-Chester Disease. (23652220)
2013
2
Down-regulation of phosphatase and tensin homolog by hepatitis C virus core 3a in hepatocytes triggers the formation of large lipid droplets. (21465511)
2011
3
Association of KIR2DS4 and its variant KIR1D with leukemia. (18463675)
2008
4
Synovial chondromatosis of the pisotriquetral joint. (11795764)
2001

Variations for Autoimmune Polyendocrine Syndrome Type 2

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Expression for genes affiliated with Autoimmune Polyendocrine Syndrome Type 2

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Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome Type 2.

Pathways for genes affiliated with Autoimmune Polyendocrine Syndrome Type 2

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GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome Type 2

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Biological processes related to Autoimmune Polyendocrine Syndrome Type 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of tumor necrosis factor productionGO:00327209.1FOXP3, POMC

Sources for Autoimmune Polyendocrine Syndrome Type 2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet