FIPA
MCID: FML168
MIFTS: 28

Familial Isolated Pituitary Adenoma (FIPA)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Rare 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 Cushing syndrome and Aryl Hydrocarbon Receptor. 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 Mutation of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Associated With Familial Isolated Pituitary Adenoma (FIPA) Mediates Tumor Invasion and Growth Hormone Hypersecretion. ( 30447469 )
2018
2
Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature. ( 29022641 )
2017
3
A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred. ( 27838609 )
2016
4
Morphological analysis of Francisella novicida epithelial cell infections in the absence of functional FipA. ( 26239909 )
2016
5
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
6
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
7
Familial isolated pituitary adenoma caused by a Aip gene mutation not described before in a family context. ( 24078436 )
2013
8
Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds. ( 22291433 )
2012
9
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
10
Familial isolated pituitary adenoma: evidence for genetic heterogeneity. ( 20616498 )
2010
11
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. ( 20506337 )
2010
12
Novel role of phosphorylation-dependent interaction between FtsZ and FipA in mycobacterial cell division. ( 20066037 )
2010
13
Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA). ( 20570174 )
2010
14
Update on familial pituitary tumors: from multiple endocrine neoplasia type 1 to familial isolated pituitary adenoma. ( 19153518 )
2009
15
Early prenatal diagnosis of familial intestinal polyatresia (FIPA) in a 19 weeks old fetus with sonographic and postmortem findings. ( 14738109 )
2003
16
Sequence conservation and distribution of the fusobacterial immunosuppressive protein gene, fipA. ( 12354214 )
2002
17
Familial Isolated Pituitary Adenoma ( 25905184 )
2000
18
Both the fipA gene of pKM101 and the pifC gene of F inhibit conjugal transfer of RP1 by an effect on traG. ( 9696755 )
1998
19
Identification and analysis of fipA, a Fusobacterium nucleatum immunosuppressive factor gene. ( 8606098 )
1996
20
An assessment of "Fiorinal" and FIPA in painful conditions of the hands. ( 5471101 )
1970

Variations for Familial Isolated Pituitary Adenoma

ClinVar genetic disease variations for Familial Isolated Pituitary Adenoma:

6 (show top 50) (show all 62)
# 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.911G> A (p.Arg304Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs104894190 GRCh37 Chromosome 11, 67258382: 67258382
6 AIP NM_003977.3(AIP): c.911G> A (p.Arg304Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs104894190 GRCh38 Chromosome 11, 67490911: 67490911
7 AIP NM_003977.3(AIP): c.145G> A (p.Val49Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1063385 GRCh37 Chromosome 11, 67254522: 67254522
8 AIP NM_003977.3(AIP): c.145G> A (p.Val49Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1063385 GRCh38 Chromosome 11, 67487051: 67487051
9 AIP NM_003977.3(AIP): c.174G> C (p.Lys58Asn) single nucleotide variant Uncertain significance rs267606539 GRCh37 Chromosome 11, 67254551: 67254551
10 AIP NM_003977.3(AIP): c.174G> C (p.Lys58Asn) single nucleotide variant Uncertain significance rs267606539 GRCh38 Chromosome 11, 67487080: 67487080
11 AIP NM_003977.3(AIP): c.47G> A (p.Arg16His) single nucleotide variant Conflicting interpretations of pathogenicity rs145047094 GRCh37 Chromosome 11, 67250676: 67250676
12 AIP NM_003977.3(AIP): c.47G> A (p.Arg16His) single nucleotide variant Conflicting interpretations of pathogenicity rs145047094 GRCh38 Chromosome 11, 67483205: 67483205
13 AIP NM_003977.3(AIP): c.807C> T (p.Phe269=) single nucleotide variant Conflicting interpretations of pathogenicity rs139407567 GRCh37 Chromosome 11, 67258278: 67258278
14 AIP NM_003977.3(AIP): c.807C> T (p.Phe269=) single nucleotide variant Conflicting interpretations of pathogenicity rs139407567 GRCh38 Chromosome 11, 67490807: 67490807
15 AIP NM_003977.3(AIP): c.896C> T (p.Ala299Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148986773 GRCh37 Chromosome 11, 67258367: 67258367
16 AIP NM_003977.3(AIP): c.896C> T (p.Ala299Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148986773 GRCh38 Chromosome 11, 67490896: 67490896
17 AIP NM_003977.3(AIP): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs886037871 GRCh37 Chromosome 11, 67250632: 67250632
18 AIP NM_003977.3(AIP): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs886037871 GRCh38 Chromosome 11, 67483161: 67483161
19 AIP NM_003977.3(AIP): c.469-17T> C single nucleotide variant Uncertain significance rs886037872 GRCh38 Chromosome 11, 67490021: 67490021
20 AIP NM_003977.3(AIP): c.469-17T> C single nucleotide variant Uncertain significance rs886037872 GRCh37 Chromosome 11, 67257492: 67257492
21 AIP NM_003977.3(AIP): c.132C> T (p.Asp44=) single nucleotide variant Benign rs11822907 GRCh37 Chromosome 11, 67254509: 67254509
22 AIP NM_003977.3(AIP): c.132C> T (p.Asp44=) single nucleotide variant Benign rs11822907 GRCh38 Chromosome 11, 67487038: 67487038
23 AIP NM_003977.3(AIP): c.682C> A (p.Gln228Lys) single nucleotide variant Benign rs641081 GRCh38 Chromosome 11, 67490352: 67490352
24 AIP NM_003977.3(AIP): c.682C> A (p.Gln228Lys) single nucleotide variant Benign rs641081 GRCh37 Chromosome 11, 67257823: 67257823
25 AIP NM_003977.3(AIP): c.920G= (p.Arg307=) single nucleotide variant Benign rs4930199 GRCh37 Chromosome 11, 67258391: 67258391
26 AIP NM_003977.3(AIP): c.920G= (p.Arg307=) single nucleotide variant Benign rs4930199 GRCh38 Chromosome 11, 67490920: 67490920
27 AIP NM_003977.3(AIP): c.468+3G> A single nucleotide variant Uncertain significance rs868823652 GRCh37 Chromosome 11, 67256929: 67256929
28 AIP NM_003977.3(AIP): c.468+3G> A single nucleotide variant Uncertain significance rs868823652 GRCh38 Chromosome 11, 67489458: 67489458
29 AIP NM_003977.3(AIP): c.944A> C (p.Gln315Pro) single nucleotide variant Uncertain significance rs886048585 GRCh38 Chromosome 11, 67490944: 67490944
30 AIP NM_003977.3(AIP): c.944A> C (p.Gln315Pro) single nucleotide variant Uncertain significance rs886048585 GRCh37 Chromosome 11, 67258415: 67258415
31 AIP NM_003977.3(AIP): c.-12C> G single nucleotide variant Uncertain significance rs551077555 GRCh37 Chromosome 11, 67250618: 67250618
32 AIP NM_003977.3(AIP): c.-12C> G single nucleotide variant Uncertain significance rs551077555 GRCh38 Chromosome 11, 67483147: 67483147
33 AIP NM_003977.3(AIP): c.68G> A (p.Gly23Glu) single nucleotide variant Likely benign rs116940576 GRCh37 Chromosome 11, 67250697: 67250697
34 AIP NM_003977.3(AIP): c.68G> A (p.Gly23Glu) single nucleotide variant Likely benign rs116940576 GRCh38 Chromosome 11, 67483226: 67483226
35 AIP NM_003977.3(AIP): c.301G> A (p.Val101Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147931650 GRCh37 Chromosome 11, 67256759: 67256759
36 AIP NM_003977.3(AIP): c.301G> A (p.Val101Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147931650 GRCh38 Chromosome 11, 67489288: 67489288
37 AIP NM_003977.3(AIP): c.516C> T (p.Asp172=) single nucleotide variant Benign rs2276020 GRCh38 Chromosome 11, 67490085: 67490085
38 AIP NM_003977.3(AIP): c.516C> T (p.Asp172=) single nucleotide variant Benign rs2276020 GRCh37 Chromosome 11, 67257556: 67257556
39 AIP NM_003977.3(AIP): c.753G> A (p.Leu251=) single nucleotide variant Likely benign rs147351993 GRCh38 Chromosome 11, 67490423: 67490423
40 AIP NM_003977.3(AIP): c.753G> A (p.Leu251=) single nucleotide variant Likely benign rs147351993 GRCh37 Chromosome 11, 67257894: 67257894
41 AIP NM_003977.3(AIP): c.891C> A (p.Ala297=) single nucleotide variant Benign/Likely benign rs35665586 GRCh38 Chromosome 11, 67490891: 67490891
42 AIP NM_003977.3(AIP): c.891C> A (p.Ala297=) single nucleotide variant Benign/Likely benign rs35665586 GRCh37 Chromosome 11, 67258362: 67258362
43 AIP NM_003977.3(AIP): c.*64G> A single nucleotide variant Likely benign rs115346238 GRCh38 Chromosome 11, 67491057: 67491057
44 AIP NM_003977.3(AIP): c.*64G> A single nucleotide variant Likely benign rs115346238 GRCh37 Chromosome 11, 67258528: 67258528
45 AIP NM_003977.3(AIP): c.660C> T (p.Ser220=) single nucleotide variant Uncertain significance rs776495655 GRCh38 Chromosome 11, 67490330: 67490330
46 AIP NM_003977.3(AIP): c.660C> T (p.Ser220=) single nucleotide variant Uncertain significance rs776495655 GRCh37 Chromosome 11, 67257801: 67257801
47 AIP NM_003977.3(AIP): c.906G> A (p.Val302=) single nucleotide variant Conflicting interpretations of pathogenicity rs142912418 GRCh38 Chromosome 11, 67490906: 67490906
48 AIP NM_003977.3(AIP): c.906G> A (p.Val302=) single nucleotide variant Conflicting interpretations of pathogenicity rs142912418 GRCh37 Chromosome 11, 67258377: 67258377
49 AIP NM_003977.3(AIP): c.*60G> C single nucleotide variant Benign rs146014363 GRCh38 Chromosome 11, 67491053: 67491053
50 AIP NM_003977.3(AIP): c.*60G> C single nucleotide variant Benign rs146014363 GRCh37 Chromosome 11, 67258524: 67258524

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
Show member pathways
11.56 AIP CDKN1B
2 10.64 AIP CDKN1B
3 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
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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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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