FIPA
MCID: FML168
MIFTS: 36

Familial Isolated Pituitary Adenoma (FIPA) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases categories

Summaries for Familial Isolated Pituitary Adenoma

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SSTR5 antibody
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Genetics Home Reference:22 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 pituitary adenoma and adenoma. An important gene associated with Familial Isolated Pituitary Adenoma is AIP (aryl hydrocarbon receptor interacting protein), and among its related pathways are AHR Pathway and TSH signaling pathway. The compounds octreotide and forskolin have been mentioned in the context of this disorder. Affiliated tissues include pituitary and brain, and related mouse phenotypes are adipose tissue and cardiovascular system.

Aliases & Classifications for Familial Isolated Pituitary Adenoma

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Familial Isolated Pituitary Adenoma, Aliases & Descriptions:

Name: Familial Isolated Pituitary Adenoma 42 22
Fipa 42 22
Familial Isolated Pituitary Adenoma Syndrome 42
 
Pituitary Adenoma, Familial Isolated 61
Multiple Gastrointestinal Atresias 61


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Gastrointestinal diseases


Related Diseases for Familial Isolated Pituitary Adenoma

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Graphical network of the top 20 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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Drug clinical trials:

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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:

32
Pituitary, Brain

Animal Models for Familial Isolated Pituitary Adenoma or affiliated genes

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MGI Mouse Phenotypes related to Familial Isolated Pituitary Adenoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.8CDKN1B, PRKAR1A, GNAS
2MP:00053858.5CDKN1B, PRKAR1A, GNAS, AIP
3MP:00020068.4CDKN1B, PRKAR1A, SF1, AIP
4MP:00053788.1AIP, GNAS, PRKAR1A, SSTR5, CDKN1B
5MP:00053797.4CDKN1B, SSTR5, PRKAR1A, GNAS, SF1, AIP
6MP:00053767.4AIP, SF1, GNAS, PRKAR1A, SSTR5, CDKN1B
7MP:00107687.4AIP, SF1, GNAS, PRKAR1A, CDKN1B

Publications for Familial Isolated Pituitary Adenoma

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Articles related to Familial Isolated Pituitary Adenoma:

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

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/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
AhR pathway37
9.6CDKN1B, AIP
29.4CDKN1B, GNAS
3
Show member pathways
9.3PRKAR1A, GNAS
4
Show member pathways
Development Beta adrenergic receptors regulation of ERK59
G protein signaling G Protein alpha s signaling cascades59
G protein signaling G Protein beta gamma signaling cascades59
9.3PRKAR1A, GNAS
5
Show member pathways
9.3GNAS, PRKAR1A
6
Show member pathways
Development Ligand independent activation of ESR1 and ESR259
9.3PRKAR1A, GNAS
7
Show member pathways
Signal transduction cAMP signaling59
9.3PRKAR1A, GNAS
8
Show member pathways
9.3PRKAR1A, GNAS
99.3GNAS, PRKAR1A
109.3GNAS, PRKAR1A
11
Show member pathways
9.3PRKAR1A, GNAS
12
Show member pathways
Development A2B receptor action via G protein alpha s59
9.3PRKAR1A, GNAS
139.3PRKAR1A, GNAS
14
Show member pathways
8.9CDKN1B, PRKAR1A, GNAS
15
Show member pathways
8.5CDKN1B, SSTR5, PRKAR1A, GNAS

Compounds for genes affiliated with Familial Isolated Pituitary Adenoma

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Compounds related to Familial Isolated Pituitary Adenoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1octreotide44 60 29 1212.1SSTR5, GNAS
2forskolin44 50 1210.9CDKN1B, PRKAR1A, GNAS
3thymidine44 259.9CDKN1B, SSTR5, GNAS
4arginine448.9CDKN1B, PRKAR1A, GNAS
5glutamine448.6SF1, GNAS, CDKN1B
6cyclic amp44 259.5CDKN1B, CNC2, PRKAR1A, GNAS

GO Terms for genes affiliated with Familial Isolated Pituitary Adenoma

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Biological processes related to Familial Isolated Pituitary Adenoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1energy reserve metabolic processGO:0061129.3PRKAR1A, GNAS
2cellular response to glucagon stimulusGO:0713779.2PRKAR1A, GNAS
3water transportGO:0068339.0PRKAR1A, GNAS
4regulation of insulin secretionGO:0507968.9SSTR5, PRKAR1A, GNAS

Products for genes affiliated with Familial Isolated Pituitary Adenoma

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Sources for Familial Isolated Pituitary Adenoma

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4CDC
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23GTR
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26ICD10
27ICD10 via Orphanet
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47OMIM via Orphanet
51PubMed
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57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet