MCID: FML168
MIFTS: 27

Familial Isolated Pituitary Adenoma

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

Aliases & Classifications for Familial Isolated Pituitary Adenoma

MalaCards integrated aliases for Familial Isolated Pituitary Adenoma:

Name: Familial Isolated Pituitary Adenoma 53 25 59
Fipa 53 25 59
Pituitary Adenoma, Familial Isolated 6 73
Familial Isolated Pituitary Adenoma Syndrome 53
Familial Isolated Pituitary Adenomas 6
Multiple Gastrointestinal Atresias 73
Pituitary Adenoma Predisposition 73

Characteristics:

Orphanet epidemiological data:

59
familial isolated pituitary adenoma
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Orphanet 59 ORPHA314777
UMLS via Orphanet 74 C1863340
ICD10 via Orphanet 34 D35.2

Summaries for Familial Isolated Pituitary Adenoma

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 pituitary adenoma, prolactin-secreting and multiple endocrine neoplasia, type i. 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:

41
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
Familial isolated pituitary adenomas experience at a single center: clinical importance of AIP mutation screening. ( 21340155 )
2010
10
Familial isolated pituitary adenoma: evidence for genetic heterogeneity. ( 20616498 )
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
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. ( 17244780 )
2007
17
The clinical, pathological, and genetic features of familial isolated pituitary adenomas. ( 17893250 )
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
(show all 50)
# 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.40C> T (p.Gln14Ter) single nucleotide variant Pathogenic rs104894194 GRCh38 Chromosome 11, 67483198: 67483198
3 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh37 Chromosome 11, 67258275: 67258275
4 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh38 Chromosome 11, 67490804: 67490804
5 AIP NM_003977.3(AIP): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs886037871 GRCh37 Chromosome 11, 67250632: 67250632
6 AIP NM_003977.3(AIP): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs886037871 GRCh38 Chromosome 11, 67483161: 67483161
7 AIP NM_003977.3(AIP): c.469-17T> C single nucleotide variant Uncertain significance rs886037872 GRCh38 Chromosome 11, 67490021: 67490021
8 AIP NM_003977.3(AIP): c.469-17T> C single nucleotide variant Uncertain significance rs886037872 GRCh37 Chromosome 11, 67257492: 67257492
9 AIP NM_003977.3(AIP): c.132C> T (p.Asp44=) single nucleotide variant Benign rs11822907 GRCh37 Chromosome 11, 67254509: 67254509
10 AIP NM_003977.3(AIP): c.132C> T (p.Asp44=) single nucleotide variant Benign rs11822907 GRCh38 Chromosome 11, 67487038: 67487038
11 AIP NM_003977.3(AIP): c.682C> A (p.Gln228Lys) single nucleotide variant Benign rs641081 GRCh38 Chromosome 11, 67490352: 67490352
12 AIP NM_003977.3(AIP): c.682C> A (p.Gln228Lys) single nucleotide variant Benign rs641081 GRCh37 Chromosome 11, 67257823: 67257823
13 AIP NM_003977.3(AIP): c.920G= (p.Arg307=) single nucleotide variant Benign rs4930199 GRCh37 Chromosome 11, 67258391: 67258391
14 AIP NM_003977.3(AIP): c.920G= (p.Arg307=) single nucleotide variant Benign rs4930199 GRCh38 Chromosome 11, 67490920: 67490920
15 AIP NM_003977.3(AIP): c.468+3G> A single nucleotide variant Uncertain significance rs868823652 GRCh37 Chromosome 11, 67256929: 67256929
16 AIP NM_003977.3(AIP): c.468+3G> A single nucleotide variant Uncertain significance rs868823652 GRCh38 Chromosome 11, 67489458: 67489458
17 AIP NM_003977.3(AIP): c.944A> C (p.Gln315Pro) single nucleotide variant Uncertain significance rs886048585 GRCh38 Chromosome 11, 67490944: 67490944
18 AIP NM_003977.3(AIP): c.944A> C (p.Gln315Pro) single nucleotide variant Uncertain significance rs886048585 GRCh37 Chromosome 11, 67258415: 67258415
19 AIP NM_003977.3(AIP): c.-12C> G single nucleotide variant Uncertain significance rs551077555 GRCh37 Chromosome 11, 67250618: 67250618
20 AIP NM_003977.3(AIP): c.-12C> G single nucleotide variant Uncertain significance rs551077555 GRCh38 Chromosome 11, 67483147: 67483147
21 AIP NM_003977.3(AIP): c.68G> A (p.Gly23Glu) single nucleotide variant Likely benign rs116940576 GRCh37 Chromosome 11, 67250697: 67250697
22 AIP NM_003977.3(AIP): c.68G> A (p.Gly23Glu) single nucleotide variant Likely benign rs116940576 GRCh38 Chromosome 11, 67483226: 67483226
23 AIP NM_003977.3(AIP): c.301G> A (p.Val101Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147931650 GRCh37 Chromosome 11, 67256759: 67256759
24 AIP NM_003977.3(AIP): c.301G> A (p.Val101Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147931650 GRCh38 Chromosome 11, 67489288: 67489288
25 AIP NM_003977.3(AIP): c.516C> T (p.Asp172=) single nucleotide variant Benign rs2276020 GRCh38 Chromosome 11, 67490085: 67490085
26 AIP NM_003977.3(AIP): c.516C> T (p.Asp172=) single nucleotide variant Benign rs2276020 GRCh37 Chromosome 11, 67257556: 67257556
27 AIP NM_003977.3(AIP): c.753G> A (p.Leu251=) single nucleotide variant Likely benign rs147351993 GRCh38 Chromosome 11, 67490423: 67490423
28 AIP NM_003977.3(AIP): c.753G> A (p.Leu251=) single nucleotide variant Likely benign rs147351993 GRCh37 Chromosome 11, 67257894: 67257894
29 AIP NM_003977.3(AIP): c.891C> A (p.Ala297=) single nucleotide variant Benign/Likely benign rs35665586 GRCh38 Chromosome 11, 67490891: 67490891
30 AIP NM_003977.3(AIP): c.891C> A (p.Ala297=) single nucleotide variant Benign/Likely benign rs35665586 GRCh37 Chromosome 11, 67258362: 67258362
31 AIP NM_003977.3(AIP): c.*64G> A single nucleotide variant Likely benign rs115346238 GRCh38 Chromosome 11, 67491057: 67491057
32 AIP NM_003977.3(AIP): c.*64G> A single nucleotide variant Likely benign rs115346238 GRCh37 Chromosome 11, 67258528: 67258528
33 AIP NM_003977.3(AIP): c.660C> T (p.Ser220=) single nucleotide variant Uncertain significance rs776495655 GRCh38 Chromosome 11, 67490330: 67490330
34 AIP NM_003977.3(AIP): c.660C> T (p.Ser220=) single nucleotide variant Uncertain significance rs776495655 GRCh37 Chromosome 11, 67257801: 67257801
35 AIP NM_003977.3(AIP): c.906G> A (p.Val302=) single nucleotide variant Conflicting interpretations of pathogenicity rs142912418 GRCh38 Chromosome 11, 67490906: 67490906
36 AIP NM_003977.3(AIP): c.906G> A (p.Val302=) single nucleotide variant Conflicting interpretations of pathogenicity rs142912418 GRCh37 Chromosome 11, 67258377: 67258377
37 AIP NM_003977.3(AIP): c.*60G> C single nucleotide variant Benign rs146014363 GRCh38 Chromosome 11, 67491053: 67491053
38 AIP NM_003977.3(AIP): c.*60G> C single nucleotide variant Benign rs146014363 GRCh37 Chromosome 11, 67258524: 67258524
39 AIP NM_003977.3(AIP): c.-84C> G single nucleotide variant Likely benign rs540839310 GRCh37 Chromosome 11, 67250546: 67250546
40 AIP NM_003977.3(AIP): c.-84C> G single nucleotide variant Likely benign rs540839310 GRCh38 Chromosome 11, 67483075: 67483075
41 AIP NM_003977.3(AIP): c.-23A> G single nucleotide variant Likely benign rs200665479 GRCh37 Chromosome 11, 67250607: 67250607
42 AIP NM_003977.3(AIP): c.-23A> G single nucleotide variant Likely benign rs200665479 GRCh38 Chromosome 11, 67483136: 67483136
43 AIP NM_003977.3(AIP): c.-2G> C single nucleotide variant Uncertain significance rs377710724 GRCh37 Chromosome 11, 67250628: 67250628
44 AIP NM_003977.3(AIP): c.-2G> C single nucleotide variant Uncertain significance rs377710724 GRCh38 Chromosome 11, 67483157: 67483157
45 AIP NM_003977.3(AIP): c.36G> A (p.Gly12=) single nucleotide variant Likely benign rs79662690 GRCh37 Chromosome 11, 67250665: 67250665
46 AIP NM_003977.3(AIP): c.36G> A (p.Gly12=) single nucleotide variant Likely benign rs79662690 GRCh38 Chromosome 11, 67483194: 67483194
47 AIP NM_003977.3(AIP): c.102C> G (p.Ala34=) single nucleotide variant Uncertain significance rs886048584 GRCh37 Chromosome 11, 67254479: 67254479
48 AIP NM_003977.3(AIP): c.102C> G (p.Ala34=) single nucleotide variant Uncertain significance rs886048584 GRCh38 Chromosome 11, 67487008: 67487008
49 AIP NM_003977.3(AIP): c.517G> A (p.Glu173Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs138902236 GRCh38 Chromosome 11, 67490086: 67490086
50 AIP NM_003977.3(AIP): c.517G> A (p.Glu173Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs138902236 GRCh37 Chromosome 11, 67257557: 67257557

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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