MCID: APR002
MIFTS: 15

Aip-Related Familial Isolated Pituitary Adenomas

Categories: Genetic diseases

Aliases & Classifications for Aip-Related Familial Isolated Pituitary Adenomas

MalaCards integrated aliases for Aip-Related Familial Isolated Pituitary Adenomas:

Name: Aip-Related Familial Isolated Pituitary Adenomas 24 29

Characteristics:

GeneReviews:

24
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 is related to adenoma and pituitary adenoma 1, multiple types. 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 phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

GeneReviews: NBK97965

Related Diseases for 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 11)
# Related Disease Score Top Affiliating Genes
1 adenoma 29.6 USP8 AIP
2 pituitary adenoma 1, multiple types 10.3
3 pituitary adenoma 4, acth-secreting 10.3
4 pituitary adenoma, prolactin-secreting 10.3
5 hypogonadism 10.3
6 acromegaly 10.3
7 pituitary adenoma 10.3
8 hormone producing pituitary cancer 10.3
9 hypogonadotropism 10.3
10 familial isolated pituitary adenoma 10.3
11 somatomammotropinoma 10.3

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 8.8 AIP USP8
2 Decreased homologous recombination repair frequency GR00151-A-2 8.8 AIP

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.62 AIP USP8

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:

# Genetic test Affiliating Genes
1 Aip-Related Familial Isolated Pituitary Adenomas 29

Anatomical Context for Aip-Related Familial Isolated Pituitary Adenomas

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

41
Pituitary, Testes

Publications for Aip-Related Familial Isolated Pituitary Adenomas

Articles related to Aip-Related Familial Isolated Pituitary Adenomas:

(show all 47)
# Title Authors PMID Year
1
Familial pituitary adenomas - who should be tested for AIP mutations? 4
22612670 2012
2
High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. 4
21753072 2011
3
The effects of long-term growth hormone and insulin-like growth factor-1 exposure on the development of cardiovascular, cerebrovascular and metabolic co-morbidities in treated patients with acromegaly. 4
21521288 2011
4
American Association of Clinical Endocrinologists medical guidelines for clinical practice for the diagnosis and treatment of acromegaly--2011 update. 4
21846616 2011
5
Hyperplasia-adenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein gene mutation. 4
21450940 2011
6
AIP mutation in pituitary adenomas. 4
21591954 2011
7
Familial isolated pituitary adenomas: from genetics to therapy. 4
21348957 2011
8
Diagnosis and treatment of hyperprolactinemia: an Endocrine Society clinical practice guideline. 4
21296991 2011
9
The immunophilin-like protein XAP2 is a negative regulator of estrogen signaling through interaction with estrogen receptor α. 4
21984905 2011
10
AIP mutation in pituitary adenomas in the 18th century and today. 4
21208107 2011
11
The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: Mutational hot-spot or founder effect? 4
20354355 2010
12
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. 4
20685857 2010
13
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. 4
20507346 2010
14
Role of the aryl hydrocarbon receptor-interacting protein in familial isolated pituitary adenoma. 4
30764022 2010
15
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. 4
20506337 2010
16
Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA). 4
20570174 2010
17
Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002). 4
20427401 2010
18
Prevalence of pituitary adenomas: a community-based, cross-sectional study in Banbury (Oxfordshire, UK). 4
19650784 2010
19
Genome-wide scan identifies novel modifier loci of acromegalic phenotypes for isolated familial somatotropinoma. 4
19443539 2009
20
The tyrosine kinase receptor RET interacts in vivo with aryl hydrocarbon receptor-interacting protein to alter survivin availability. 4
19366855 2009
21
Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. 4
19141585 2009
22
Recent clinical and pathophysiological advances in non-functioning pituitary adenomas. 4
19407508 2009
23
Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas. 4
19188737 2009
24
Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas. 4
18410548 2008
25
Large genomic deletions in AIP in pituitary adenoma predisposition. 4
18628514 2008
26
Treatment of pituitary gigantism with the growth hormone receptor antagonist pegvisomant. 4
18492755 2008
27
Treatment of adrenocorticotropin-dependent Cushing's syndrome: a consensus statement. 4
18413427 2008
28
The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas. 4
18381572 2008
29
Pituitary tumors in childhood: update of diagnosis, treatment and molecular genetics. 4
18416659 2008
30
Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumors. 4
18200440 2008
31
Variable pathological and clinical features of a large Brazilian family harboring a mutation in the aryl hydrocarbon receptor-interacting protein gene. 4
17893251 2007
32
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. 4
17519308 2007
33
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas. 4
17609395 2007
34
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. 4
17244780 2007
35
The aryl hydrocarbon receptor-interacting protein gene is rarely mutated in sporadic GH-secreting adenomas. 4
17371465 2007
36
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. 4
17360484 2007
37
Pathohistological classification of pituitary tumors: 10 years of experience with the German Pituitary Tumor Registry. 4
17287410 2007
38
High prevalence of pituitary adenomas: a cross-sectional study in the province of Liege, Belgium. 4
16968795 2006
39
Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. 4
17030811 2006
40
Pituitary adenoma predisposition caused by germline mutations in the AIP gene. 4
16728643 2006
41
Clinically non-functioning pituitary adenoma. 4
17082898 2006
42
The prevalence of pituitary adenomas: a systematic review. 4
15274075 2004
43
The role of chaperone proteins in the aryl hydrocarbon receptor core complex. 4
12213383 2002
44
Two distinct regions of the immunophilin-like protein XAP2 regulate dioxin receptor function and interaction with hsp90. 4
11805120 2002
45
Ligand-dependent interaction of the aryl hydrocarbon receptor with a novel immunophilin homolog in vivo. 4
9111057 1997
46
XAP2, a novel hepatitis B virus X-associated protein that inhibits X transactivation. 4
8972861 1996
47
AIP-Related Familial Isolated Pituitary Adenomas 38
22720333 2012

Variations for Aip-Related Familial Isolated Pituitary Adenomas

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

Sources for Aip-Related Familial Isolated Pituitary Adenomas

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69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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