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

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

Name: Aip-Related Familial Isolated Pituitary Adenomas 23 24 29
Pituitary Adenoma Predisposition Syndrome 24 29

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

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 phenotype is neoplasm.

GeneReviews: NBK97965

Related Diseases for Aip-Related Familial Isolated Pituitary Adenomas

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)
id Related Disease Score Top Affiliating Genes
1 pituitary adenoma 10.0
2 adenoma 10.0
3 familial isolated pituitary adenoma 10.0
4 atp7a-related copper transport disorders 9.9 AIP GNAS
5 uterine ligament cancer 9.9 AIP GNAS
6 pituitary adenoma, acth-secreting 9.9 AIP GNAS
7 cone-rod dystrophy 5 9.9 AIP GNAS
8 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 9.9 AIP GNAS
9 cold-induced sweating syndrome 2 9.9 AIP GNAS
10 adamantinous craniopharyngioma 9.8 AIP GNAS
11 bladder colonic type adenocarcinoma 9.8 AIP GNAS
12 vestibular gland benign neoplasm 9.8 AIP GNAS
13 thrombophilia 9.7 AIP GNAS

Graphical network of the top 20 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

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 AIP GNAS

Drugs & Therapeutics for Aip-Related Familial Isolated Pituitary Adenomas

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

Genetic Tests for Aip-Related Familial Isolated Pituitary Adenomas

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

id Genetic test Affiliating Genes
1 Aip-Related Familial Isolated Pituitary Adenomas 29 24 AIP
2 Pituitary Adenoma Predisposition 29

Anatomical Context for Aip-Related Familial Isolated Pituitary Adenomas

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

39
Pituitary, Testes

Publications for Aip-Related Familial Isolated Pituitary Adenomas

Articles related to Aip-Related Familial Isolated Pituitary Adenomas:

id Title Authors Year
1
AIP-Related Familial Isolated Pituitary Adenomas ( 22720333 )
1993

Variations for Aip-Related Familial Isolated Pituitary Adenomas

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 AIP NM_003977.3(AIP): c.40C> T (p.Gln14Ter) single nucleotide variant Pathogenic rs104894194 GRCh37 Chromosome 11, 67250669: 67250669
2 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh37 Chromosome 11, 67258275: 67258275

Expression for Aip-Related Familial Isolated Pituitary Adenomas

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

Pathways for Aip-Related Familial Isolated Pituitary Adenomas

GO Terms for Aip-Related Familial Isolated Pituitary Adenomas

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

id Name GO ID Score Top Affiliating Genes
1 signal transducer activity GO:0004871 8.62 AIP GNAS

Sources for Aip-Related Familial Isolated Pituitary Adenomas

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....