MCID: FML168
MIFTS: 33

Familial Isolated Pituitary Adenoma malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases, Gastrointestinal diseases categories

Aliases & Classifications for Familial Isolated Pituitary Adenoma

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Familial Isolated Pituitary Adenoma, Aliases & Descriptions:

Name: Familial Isolated Pituitary Adenoma 41 21 47
Fipa 41 21 47
Familial Isolated Pituitary Adenoma Syndrome 41
 
Pituitary Adenoma, Familial Isolated 60
Multiple Gastrointestinal Atresias 60
Pituitary Adenoma Predisposition 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
familial isolated pituitary adenoma:
Inheritance: Autosomal dominant; Age of onset: All ages


External Ids:

Orphanet47 314777
ICD10 via Orphanet26 D35.2

Summaries for Familial Isolated Pituitary Adenoma

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Genetics Home Reference:21 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.

Related Diseases for Familial Isolated Pituitary Adenoma

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Diseases in the Familial Isolated Pituitary Adenoma family:

Aip-Related Familial Isolated Pituitary Adenomas

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

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1pituitary adenoma30.1CNC2, SSTR5, PRKAR1A, GNAS, AIP, CDKN1B
2adenoma30.1CNC2, AIP, GNAS, PRKAR1A, SSTR5, CDKN1B
3multiple endocrine neoplasia29.7GNAS, PRKAR1A, CNC2, CDKN1B
4pituitary tumors29.4GNAS, CNC2, PRKAR1A, AIP, CDKN1B, SSTR5
5aip-related familial isolated pituitary adenomas10.6
6pituitary adenoma, prolactin-secreting10.3
7pituitary adenoma, growth hormone-secreting10.3
8osteomalacia10.2GNAS
9medullary thyroid carcinoma, familial10.1PRKAR1A, SSTR5
10adrenal gland hyperfunction10.1CNC2, PRKAR1A
11gigantism10.0GNAS, AIP
12peutz-jeghers syndrome10.0PRKAR1A, CNC2
13hyperparathyroidism10.0CDKN1B, PRKAR1A
14neurilemmoma10.0CNC2, PRKAR1A
15ovarian cyst10.0CNC2, GNAS
16mccune-albright syndrome, somatic, mosaic10.0GNAS, PRKAR1A
17acrodysostosis9.9PRKAR1A, GNAS
18multiple endocrine neoplasia 19.9PRKAR1A, AIP, CDKN1B
19papillary carcinoma9.9CDKN1B, GNAS
20thyroid cancer9.8GNAS, CDKN1B
21carcinoid syndrome9.8GNAS, SSTR5
22adrenal adenoma9.7GNAS, PRKAR1A, CNC2
23parathyroid adenoma9.7CDKN1B, PRKAR1A, GNAS
24thyroid adenoma9.7CNC2, GNAS, PRKAR1A
25cushing's syndrome9.7GNAS, PRKAR1A, CNC2
26prolactinoma9.6SSTR5, AIP, GNAS, PRKAR1A
27carney complex variant9.6PRKAR1A, AIP, GNAS, CDKN1B
28burkitt lymphoma9.6CDKN1B, GNAS, PRKAR1A
29acromegaly9.4AIP, CNC2, SSTR5, PRKAR1A, GNAS

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:

Search ClinicalTrials for Familial Isolated Pituitary Adenoma

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:

31
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:

35
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 18)
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
Familial Isolated Pituitary Adenoma (25905184)
2000
18
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1AIPNM_003977.2(AIP): c.40C> T (p.Gln14Ter)single nucleotide variantPathogenicrs104894194GRCh37Chr 11, 67250669: 67250669
2AIPNM_003977.2(AIP): c.804C> A (p.Tyr268Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121908356GRCh37Chr 11, 67258275: 67258275

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:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
AhR pathway36
9.6CDKN1B, AIP
29.4CDKN1B, GNAS
3
Show member pathways
9.3PRKAR1A, GNAS
4
Show member pathways
Development Beta adrenergic receptors regulation of ERK58
G protein signaling G Protein alpha s signaling cascades58
G protein signaling G Protein beta gamma signaling cascades58
9.3PRKAR1A, GNAS
5
Show member pathways
9.3GNAS, PRKAR1A
6
Show member pathways
Development Ligand independent activation of ESR1 and ESR258
9.3PRKAR1A, GNAS
7
Show member pathways
Signal transduction cAMP signaling58
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 s58
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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1octreotide43 59 28 1212.1SSTR5, GNAS
2forskolin43 49 1210.9CDKN1B, PRKAR1A, GNAS
3thymidine43 249.9CDKN1B, SSTR5, GNAS
4arginine438.9CDKN1B, PRKAR1A, GNAS
5glutamine438.6SF1, GNAS, CDKN1B
6cyclic amp43 249.5CDKN1B, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1energy reserve metabolic processGO:00061129.3PRKAR1A, GNAS
2cellular response to glucagon stimulusGO:00713779.2PRKAR1A, GNAS
3water transportGO:00068339.0PRKAR1A, GNAS
4regulation of insulin secretionGO:00507968.9SSTR5, PRKAR1A, GNAS

Products for genes affiliated with Familial Isolated Pituitary Adenoma

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  • Antibodies
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Sources for Familial Isolated Pituitary Adenoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet