MCID: FML168
MIFTS: 23

Familial Isolated Pituitary Adenoma malady

Categories: Genetic diseases, Rare diseases, Endocrine 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 47 25 53
Fipa 47 25 53
Familial Isolated Pituitary Adenoma Syndrome 47
 
Pituitary Adenoma, Familial Isolated 67
Multiple Gastrointestinal Atresias 67
Pituitary Adenoma Predisposition 67

Characteristics:

Orphanet epidemiological data:

53
familial isolated pituitary adenoma:
Inheritance: Autosomal dominant; Age of onset: All ages

Classifications:



External Ids:

Orphanet53 ORPHA314777
ICD10 via Orphanet30 D35.2

Summaries for Familial Isolated Pituitary Adenoma

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Genetics Home Reference:25 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). Affiliated tissues include pituitary and brain.

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
1Hormones13979

Interventional clinical trials:

idNameStatusNCT IDPhase
1Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in AcromegalyUnknown statusNCT01902420
2Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPARecruitingNCT00461188

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:

35
Pituitary, Brain

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 20)
idTitleAuthorsYear
1
A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred. (27838609)
2016
2
Familial isolated pituitary adenomas (FIPA) and mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. (25732638)
2015
3
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
4
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
5
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. (23371967)
2013
6
Familial isolated pituitary adenoma caused by a Aip gene mutation not described before in a family context. (24078436)
2013
7
Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds. (22291433)
2012
8
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
9
Familial isolated pituitary adenoma: evidence for genetic heterogeneity. (20616498)
2010
10
Familial isolated pituitary adenomas experience at a single center: clinical importance of AIP mutation screening. (21340155)
2010
11
The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: Mutational hot-spot or founder effect? (20354355)
2010
12
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. (20506337)
2010
13
Update on familial pituitary tumors: from multiple endocrine neoplasia type 1 to familial isolated pituitary adenoma. (19153518)
2009
14
Genetic, molecular and clinical features of familial isolated pituitary adenomas. (19407507)
2009
15
Silent familial isolated pituitary adenomas: histopathological and clinical case report. (18317953)
2008
16
The clinical, pathological, and genetic features of familial isolated pituitary adenomas. (17893250)
2007
17
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. (17244780)
2007
18
Clinical characterization of familial isolated pituitary adenomas. (16787992)
2006
19
Familial Isolated Pituitary Adenoma (25905184)
2000
20
AIP-Related Familial Isolated Pituitary Adenomas (22720333)
1993

Variations for Familial Isolated Pituitary Adenoma

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Clinvar genetic disease variations for Familial Isolated Pituitary Adenoma:

5
id Gene Variation Type Significance SNP ID Assembly Location
1AIPNM_003977.3(AIP): c.40C> T (p.Gln14Ter)SNVPathogenicrs104894194GRCh37Chr 11, 67250669: 67250669
2AIPNM_003977.3(AIP): c.911G> A (p.Arg304Gln)SNVPathogenicrs104894190GRCh37Chr 11, 67258382: 67258382

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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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
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