MCID: FML168
MIFTS: 28

Familial Isolated Pituitary Adenoma

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

Aliases & Classifications for Familial Isolated Pituitary Adenoma

MalaCards integrated aliases for Familial Isolated Pituitary Adenoma:

Name: Familial Isolated Pituitary Adenoma 49 24 55
Fipa 49 24 55
Familial Isolated Pituitary Adenoma Syndrome 49
Pituitary Adenoma, Familial Isolated 69
Multiple Gastrointestinal Atresias 69
Pituitary Adenoma Predisposition 69

Characteristics:

Orphanet epidemiological data:

55
familial isolated pituitary adenoma
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

Orphanet: 55  
Rare endocrine diseases


External Ids:

Orphanet 55 ORPHA314777
UMLS via Orphanet 70 C1863340
ICD10 via Orphanet 33 D35.2

Summaries for Familial Isolated Pituitary Adenoma

Genetics Home Reference : 24 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, prolactin-secreting and aip-related familial isolated pituitary adenomas. An important gene associated with Familial Isolated Pituitary Adenoma is AIP (Aryl Hydrocarbon Receptor Interacting Protein), and among its related pathways/superpathways are Aryl Hydrocarbon Receptor and Aryl Hydrocarbon Receptor Pathway. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include pituitary and brain.

Related Diseases for Familial Isolated Pituitary Adenoma

Graphical network of the top 20 diseases related to Familial Isolated Pituitary Adenoma:



Diseases related to Familial Isolated Pituitary Adenoma

Symptoms & Phenotypes for Familial Isolated Pituitary Adenoma

Drugs & Therapeutics for Familial Isolated Pituitary Adenoma

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly Unknown status NCT01902420
2 Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA Recruiting NCT00461188

Search NIH Clinical Center for Familial Isolated Pituitary Adenoma

Genetic Tests for Familial Isolated Pituitary Adenoma

Anatomical Context for Familial Isolated Pituitary Adenoma

MalaCards organs/tissues related to Familial Isolated Pituitary Adenoma:

38
Pituitary, Brain

Publications for Familial Isolated Pituitary Adenoma

Articles related to Familial Isolated Pituitary Adenoma:

(show all 20)
# Title Authors Year
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
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
Familial isolated pituitary adenoma: evidence for genetic heterogeneity. ( 20616498 )
2010
11
Familial isolated pituitary adenomas experience at a single center: clinical importance of AIP mutation screening. ( 21340155 )
2010
12
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. ( 20506337 )
2010
13
Genetic, molecular and clinical features of familial isolated pituitary adenomas. ( 19407507 )
2009
14
Update on familial pituitary tumors: from multiple endocrine neoplasia type 1 to familial isolated pituitary adenoma. ( 19153518 )
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

ClinVar genetic disease variations for Familial Isolated Pituitary Adenoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AIP NM_003977.3(AIP): c.40C> T (p.Gln14Ter) single nucleotide variant Pathogenic rs104894194 GRCh37 Chromosome 11, 67250669: 67250669
2 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh37 Chromosome 11, 67258275: 67258275
3 AIP NM_003977.3(AIP): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs886037871 GRCh37 Chromosome 11, 67250632: 67250632

Expression for Familial Isolated Pituitary Adenoma

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

Pathways for Familial Isolated Pituitary Adenoma

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

# Super pathways Score Top Affiliating Genes
1 10.64 AIP CDKN1B
2 10.3 AIP CDKN1B

GO Terms for Familial Isolated Pituitary Adenoma

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.62 CDH23 CDKN1B

Sources for Familial Isolated Pituitary Adenoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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