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 26
 
Pituitary Adenoma Predisposition Syndrome 24 26

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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Diseases in the Familial Isolated Pituitary Adenoma family:

aip-related familial isolated pituitary adenomas

Diseases related to Aip-Related Familial Isolated Pituitary Adenomas via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1pituitary adenoma10.0
2adenoma10.0
3familial isolated pituitary adenoma10.0
4als2-related disorders9.7AIP, GNAS
5adrenal medulla cancer9.7AIP, GNAS
6osseous heteroplasia, progressive9.7AIP, GNAS
7cold-induced sweating syndrome 29.7AIP, GNAS
8cone-rod dystrophy 59.6AIP, GNAS
9pituitary adenoma, prolactin-secreting9.6AIP, GNAS
10skull base neoplasm9.5AIP, GNAS
11childhood optic tract astrocytoma9.5AIP, GNAS
12male reproductive organ benign neoplasm9.5AIP, GNAS
13protein s deficiency9.3AIP, GNAS

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



Diseases related to aip-related familial isolated pituitary adenomas

Symptoms for Aip-Related Familial Isolated Pituitary Adenomas

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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 Adenomas26 24 AIP
2 Pituitary Adenoma Predisposition26

Anatomical Context for Aip-Related Familial Isolated Pituitary Adenomas

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

35
Pituitary, Testes

Animal Models for Aip-Related Familial Isolated Pituitary Adenomas or affiliated genes

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MGI Mouse Phenotypes related to Aip-Related Familial Isolated Pituitary Adenomas:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1AIP, GNAS

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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Clinvar genetic disease variations for Aip-Related Familial Isolated Pituitary Adenomas:

5
id Gene Variation Type Significance SNP ID Assembly Location
1AIPNM_003977.3(AIP): c.40C> T (p.Gln14Ter)SNVPathogenicrs104894194GRCh37Chr 11, 67250669: 67250669

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet