MCID: APR002
MIFTS: 16

Aip-Related Familial Isolated Pituitary Adenomas malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Gastrointestinal diseases

Aliases & Classifications for Aip-Related Familial Isolated Pituitary Adenomas

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Aliases & Descriptions for Aip-Related Familial Isolated Pituitary Adenomas:

Name: Aip-Related Familial Isolated Pituitary Adenomas 23 24 27
 
Pituitary Adenoma Predisposition Syndrome 24 27

Characteristics:

GeneReviews:

23
Penetrance: studies on large families with aip pathogenic variants show a clinical penetrance of pituitary tumors of approximately 15%-30% [vierimaa et al 2006, naves et al 2007, chahal et al 2011]. although some families with aip-related fipa can show high penetrance, the higher levels of penetrance initially reported in some families is probably ascertainment bias due to insufficient information on all at-risk family members (e.g., lack of medical records, information on pituitary hormone testing, and/or imaging studies) [daly et al 2007, leontiou et al 2008]...


Classifications:



Summaries for Aip-Related Familial Isolated Pituitary Adenomas

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MalaCards based summary: Aip-Related Familial Isolated Pituitary Adenomas, also known as pituitary adenoma predisposition syndrome, is related to pituitary adenoma and adenoma. An important gene associated with Aip-Related Familial Isolated Pituitary Adenomas is AIP (Aryl Hydrocarbon Receptor Interacting Protein). Affiliated tissues include pituitary and testes, and related mouse phenotype neoplasm.

GeneReviews for NBK97965

Related Diseases for Aip-Related Familial Isolated Pituitary Adenomas

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Graphical network of diseases related to Aip-Related Familial Isolated Pituitary Adenomas:



Diseases related to aip-related familial isolated pituitary adenomas

Symptoms & Phenotypes for Aip-Related Familial Isolated Pituitary Adenomas

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MGI Mouse Phenotypes related to Aip-Related Familial Isolated Pituitary Adenomas according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1AIP, GNAS

Drugs & Therapeutics for Aip-Related Familial Isolated Pituitary Adenomas

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Aip-Related Familial Isolated Pituitary Adenomas

Genetic Tests for Aip-Related Familial Isolated Pituitary Adenomas

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Genetic tests related to Aip-Related Familial Isolated Pituitary Adenomas:

id Genetic test Affiliating Genes
1 Aip-Related Familial Isolated Pituitary Adenomas27 24 AIP
2 Pituitary Adenoma Predisposition27

Anatomical Context for Aip-Related Familial Isolated Pituitary Adenomas

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MalaCards organs/tissues related to Aip-Related Familial Isolated Pituitary Adenomas:

36
Pituitary, Testes

Publications for Aip-Related Familial Isolated Pituitary Adenomas

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Articles related to Aip-Related Familial Isolated Pituitary Adenomas:

idTitleAuthorsYear
1
AIP-Related Familial Isolated Pituitary Adenomas (22720333)
1993

Variations for Aip-Related Familial Isolated Pituitary Adenomas

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Expression for genes affiliated with Aip-Related Familial Isolated Pituitary Adenomas

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Search GEO for disease gene expression data for Aip-Related Familial Isolated Pituitary Adenomas.

Pathways for genes affiliated with Aip-Related Familial Isolated Pituitary Adenomas

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GO Terms for genes affiliated with Aip-Related Familial Isolated Pituitary Adenomas

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Molecular functions related to Aip-Related Familial Isolated Pituitary Adenomas according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1signal transducer activityGO:00048719.1AIP, GNAS

Sources for Aip-Related Familial Isolated Pituitary Adenomas

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet