MCID: FML168
MIFTS: 24

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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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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 314777
ICD10 via Orphanet28 D35.2

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 adenoma and pituitary adenoma. An important gene associated with Familial Isolated Pituitary Adenoma is AIP (Aryl Hydrocarbon Receptor Interacting Protein), and among its related pathways is . Affiliated tissues include pituitary and brain.

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 top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma10.9
2pituitary adenoma10.9
3aip-related familial isolated pituitary adenomas10.6
4pituitary adenoma, growth hormone-secreting10.5
5pituitary tumors10.5
6pituitary adenoma, prolactin-secreting10.4
7multiple endocrine neoplasia10.4
8ewing sarcoma10.3
9hypothalamic neoplasm10.3
10adult central nervous system primitive neuroectodermal neoplasm10.3
11acromegaly10.3
12newcastle disease10.3
13neuroendocrine carcinoma10.3
14neuroectodermal tumor10.3
15adult central nervous system embryonal carcinoma10.3
16central nervous system embryonal carcinoma10.3
17medulloepithelioma10.3
18supratentorial primitive neuroectodermal tumor10.3
19cerebral primitive neuroectodermal tumor10.3
20malignant growth hormone secreting neoplasm of pituitary10.3
21prolactinoma10.3
22secondary syphilis10.3
23blood protein disease10.3
24bone cancer10.3
25bone development disease10.3
26brain cancer10.3
27central nervous system adult germ cell tumor10.3
28central nervous system cancer10.3
29central nervous system disease10.3
30central nervous system germ cell tumor10.3
31central nervous system primitive neuroectodermal neoplasm10.3
32embryonal cancer10.3
33endocrine gland cancer10.3
34germ cell and embryonal cancer10.3
35germ cell cancer10.3
36hyperpituitarism10.3
37hypothalamic disease10.3
38nervous system cancer10.3
39neuroendocrine tumor10.3
40pituitary carcinoma10.3
41pituitary gland disease10.3
42supratentorial cancer10.3
43genetic brain disorders10.3
44apudoma10.3
45carcinoid syndrome10.3
46gigantism10.3
47goblet cell carcinoid10.3
48familial/multiple cancer10.3
49pituitary gigantism10.3
50gastrointestinal defects and immunodeficiency syndrome10.0

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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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

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 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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1AIPNM_003977.3(AIP): c.40C> T (p.Gln14Ter)single nucleotide variantPathogenicrs104894194GRCh37Chr 11, 67250669: 67250669
2AIPNM_003977.3(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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
AhR pathway (WikiPathways)
Show member pathways
9.0

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