MCID: APF001
MIFTS: 13

Aip Familial Isolated Pituitary Adenomas

Categories: Genetic diseases

Aliases & Classifications for Aip Familial Isolated Pituitary Adenomas

MalaCards integrated aliases for Aip Familial Isolated Pituitary Adenomas:

Name: Aip Familial Isolated Pituitary Adenomas 24

Characteristics:

GeneReviews:

24
Penetrance Studies on large families with aip pathogenic variants show a clinical penetrance of pituitary adenomas of approximately 23% (range 15%-30%) [vierimaa et al 2006, naves et al 2007, williams et al 2014, hernández-ramírez et al 2015]. although some families with aip-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 Familial Isolated Pituitary Adenomas

MalaCards based summary : Aip Familial Isolated Pituitary Adenomas is related to pituitary adenoma and adenoma. An important gene associated with Aip Familial Isolated Pituitary Adenomas is AIP (Aryl Hydrocarbon Receptor Interacting Protein), and among its related pathways/superpathways is Aldosterone synthesis and secretion. Affiliated tissues include pituitary and testes.

GeneReviews: NBK97965

Related Diseases for Aip Familial Isolated Pituitary Adenomas

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 pituitary adenoma 29.7 USP8 AIP
2 adenoma 29.6 USP8 AIP
3 pituitary adenoma 1, multiple types 10.2
4 pituitary adenoma 4, acth-secreting 10.2
5 pituitary adenoma, prolactin-secreting 10.2
6 hypogonadism 10.2
7 acromegaly 10.2
8 hormone producing pituitary cancer 10.2
9 hypopituitarism 10.2
10 familial isolated pituitary adenoma 10.2
11 somatomammotropinoma 10.2
12 multiple endocrine neoplasia, type iv 9.5 USP8 AIP
13 acth-secreting pituitary adenoma 9.5 USP8 AIP
14 functioning pituitary adenoma 9.5 USP8 AIP
15 carney complex variant 9.4 USP8 AIP
16 pituitary gland disease 9.2 USP8 AIP

Graphical network of the top 20 diseases related to Aip Familial Isolated Pituitary Adenomas:



Diseases related to Aip Familial Isolated Pituitary Adenomas

Symptoms & Phenotypes for Aip Familial Isolated Pituitary Adenomas

Drugs & Therapeutics for Aip Familial Isolated Pituitary Adenomas

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

Genetic Tests for Aip Familial Isolated Pituitary Adenomas

Anatomical Context for Aip Familial Isolated Pituitary Adenomas

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

40
Pituitary, Testes

Publications for Aip Familial Isolated Pituitary Adenomas

Articles related to Aip Familial Isolated Pituitary Adenomas:

(show all 44)
# Title Authors PMID Year
1
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors. 24
31996917 2020
2
Surgery, Octreotide, Temozolomide, Bevacizumab, Radiotherapy, and Pegvisomant Treatment of an AIP Mutation‒Positive Child. 24
31125088 2019
3
Clinical and Pathological Aspects of Silent Pituitary Adenomas. 24
30020466 2019
4
AIP-mutated acromegaly resistant to first-generation somatostatin analogs: long-term control with pasireotide LAR in two patients. 24
30851160 2019
5
Risk category system to identify pituitary adenoma patients with AIP mutations. 24
29440248 2018
6
In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism. 24
28634279 2017
7
Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations. 24
27253664 2016
8
AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience. 24
27033541 2016
9
Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. 24
26935837 2016
10
Timing, rates and spectra of human germline mutation. 24
26656846 2016
11
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers. 24
26186299 2015
12
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. 24
25470569 2014
13
Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation. 24
24423289 2014
14
PRKACB and Carney complex. 24
24571725 2014
15
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. 24
23371967 2013
16
Incidence, treatment and survival of patients with craniopharyngioma in the surveillance, epidemiology and end results program. 24
22735773 2012
17
Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. 24
22319033 2012
18
High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. 24
21753072 2011
19
American Association of Clinical Endocrinologists medical guidelines for clinical practice for the diagnosis and treatment of acromegaly--2011 update. 24
21846616 2011
20
Hyperplasia-adenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein gene mutation. 24
21450940 2011
21
AIP mutation in pituitary adenomas. 24
21591954 2011
22
Diagnosis and treatment of hyperprolactinemia: an Endocrine Society clinical practice guideline. 24
21296991 2011
23
The immunophilin-like protein XAP2 is a negative regulator of estrogen signaling through interaction with estrogen receptor α. 24
21984905 2011
24
AIP mutation in pituitary adenomas in the 18th century and today. 24
21208107 2011
25
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. 24
20685857 2010
26
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. 24
20506337 2010
27
Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA). 24
20570174 2010
28
Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002). 24
20427401 2010
29
Genome-wide scan identifies novel modifier loci of acromegalic phenotypes for isolated familial somatotropinoma. 24
19443539 2009
30
The tyrosine kinase receptor RET interacts in vivo with aryl hydrocarbon receptor-interacting protein to alter survivin availability. 24
19366855 2009
31
Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. 24
19141585 2009
32
Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas. 24
19188737 2009
33
Large genomic deletions in AIP in pituitary adenoma predisposition. 24
18628514 2008
34
Treatment of pituitary gigantism with the growth hormone receptor antagonist pegvisomant. 24
18492755 2008
35
The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas. 24
18381572 2008
36
Variable pathological and clinical features of a large Brazilian family harboring a mutation in the aryl hydrocarbon receptor-interacting protein gene. 24
17893251 2007
37
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. 24
17244780 2007
38
Pathohistological classification of pituitary tumors: 10 years of experience with the German Pituitary Tumor Registry. 24
17287410 2007
39
Pituitary adenoma predisposition caused by germline mutations in the AIP gene. 24
16728643 2006
40
The prevalence of pituitary adenomas: a systematic review. 24
15274075 2004
41
Two distinct regions of the immunophilin-like protein XAP2 regulate dioxin receptor function and interaction with hsp90. 24
11805120 2002
42
Ligand-dependent interaction of the aryl hydrocarbon receptor with a novel immunophilin homolog in vivo. 24
9111057 1997
43
XAP2, a novel hepatitis B virus X-associated protein that inhibits X transactivation. 24
8972861 1996
44
AIP Familial Isolated Pituitary Adenomas 61
22720333 2012

Variations for Aip Familial Isolated Pituitary Adenomas

Expression for Aip Familial Isolated Pituitary Adenomas

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

Pathways for Aip Familial Isolated Pituitary Adenomas

Pathways related to Aip Familial Isolated Pituitary Adenomas according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.39 USP8 AIP

GO Terms for Aip Familial Isolated Pituitary Adenomas

Sources for Aip Familial Isolated Pituitary Adenomas

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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