MCID: FML168
MIFTS: 26

Familial Isolated Pituitary Adenoma malady

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

Aliases & Classifications for Familial Isolated Pituitary Adenoma

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Aliases & Descriptions for Familial Isolated Pituitary Adenoma:

Name: Familial Isolated Pituitary Adenoma 45 23 51
Fipa 45 23 51
Familial Isolated Pituitary Adenoma Syndrome 45
 
Pituitary Adenoma, Familial Isolated 65
Multiple Gastrointestinal Atresias 65
Pituitary Adenoma Predisposition 65

Characteristics:

Orphanet epidemiological data:

51
familial isolated pituitary adenoma:
Inheritance: Autosomal dominant; Age of onset: All ages

Classifications:



External Ids:

Orphanet51 314777
ICD10 via Orphanet28 D35.2
UMLS65 C1863340, C2676191

Summaries for Familial Isolated Pituitary Adenoma

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Genetics Home Reference:23 Familial isolated pituitary adenoma (FIPA) is an inherited condition characterized by development of a noncancerous tumor in the pituitary gland (called a pituitary adenoma). The pituitary gland, which is found at the base of the brain, produces hormones that control many important body functions.

MalaCards based summary: Familial Isolated Pituitary Adenoma, also known as fipa, is related to aip-related familial isolated pituitary adenomas and pituitary adenoma, growth hormone-secreting. An important gene associated with Familial Isolated Pituitary Adenoma is AIP (Aryl Hydrocarbon Receptor Interacting Protein), and among its related pathways is AhR pathway (WikiPathways). Affiliated tissues include pituitary, brain and liver.

Related Diseases for Familial Isolated Pituitary Adenoma

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Graphical network of diseases related to Familial Isolated Pituitary Adenoma:



Diseases related to familial isolated pituitary adenoma

Symptoms for Familial Isolated Pituitary Adenoma

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Drugs & Therapeutics for Familial Isolated Pituitary Adenoma

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Drugs for Familial Isolated Pituitary Adenoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormones11748

Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPARecruitingNCT00461188
2Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in AcromegalyRecruitingNCT01902420

Search NIH Clinical Center for Familial Isolated Pituitary Adenoma

Genetic Tests for Familial Isolated Pituitary Adenoma

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Anatomical Context for Familial Isolated Pituitary Adenoma

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MalaCards organs/tissues related to Familial Isolated Pituitary Adenoma:

33
Pituitary, Brain, Liver, Thyroid, Prostate

Animal Models for Familial Isolated Pituitary Adenoma or affiliated genes

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Publications for Familial Isolated Pituitary Adenoma

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Articles related to Familial Isolated Pituitary Adenoma:

(show all 19)
idTitleAuthorsYear
1
Familial isolated pituitary adenomas (FIPA) and mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. (25732638)
2015
2
A novel C-terminal nonsense mutation, Q315X, of the aryl hydrocarbon receptor-interacting protein gene in a Japanese familial isolated pituitary adenoma family. (24789813)
2014
3
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. (24423289)
2013
4
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. (23371967)
2013
5
Familial isolated pituitary adenoma caused by a Aip gene mutation not described before in a family context. (24078436)
2013
6
Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds. (22291433)
2012
7
Genetic analysis in a patient presenting with meningioma and familial isolated pituitary adenoma (FIPA) reveals selective involvement of the R81X mutation of the AIP gene in the pathogenesis of the pituitary tumor. (22527616)
2012
8
Familial isolated pituitary adenoma: evidence for genetic heterogeneity. (20616498)
2010
9
Familial isolated pituitary adenomas experience at a single center: clinical importance of AIP mutation screening. (21340155)
2010
10
The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: Mutational hot-spot or founder effect? (20354355)
2010
11
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. (20506337)
2010
12
Genetic, molecular and clinical features of familial isolated pituitary adenomas. (19407507)
2009
13
Update on familial pituitary tumors: from multiple endocrine neoplasia type 1 to familial isolated pituitary adenoma. (19153518)
2009
14
Silent familial isolated pituitary adenomas: histopathological and clinical case report. (18317953)
2008
15
The clinical, pathological, and genetic features of familial isolated pituitary adenomas. (17893250)
2007
16
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. (17244780)
2007
17
Clinical characterization of familial isolated pituitary adenomas. (16787992)
2006
18
Familial Isolated Pituitary Adenoma (25905184)
2000
19
AIP-Related Familial Isolated Pituitary Adenomas (22720333)
1993

Variations for Familial Isolated Pituitary Adenoma

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Expression for genes affiliated with Familial Isolated Pituitary Adenoma

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Search GEO for disease gene expression data for Familial Isolated Pituitary Adenoma.

Pathways for genes affiliated with Familial Isolated Pituitary Adenoma

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.0AIP, CDKN1B

GO Terms for genes affiliated with Familial Isolated Pituitary Adenoma

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Sources for Familial Isolated Pituitary Adenoma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet