FIPA
MCID: FML168
MIFTS: 32

Familial Isolated Pituitary Adenoma (FIPA)

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Familial Isolated Pituitary Adenoma

MalaCards integrated aliases for Familial Isolated Pituitary Adenoma:

Name: Familial Isolated Pituitary Adenoma 20 43 58
Fipa 20 43 58
Pituitary Adenoma, Familial Isolated 6 70
Familial Isolated Pituitary Adenoma Syndrome 20
Familial Isolated Pituitary Adenomas 6
Multiple Gastrointestinal Atresias 70
Pituitary Adenoma Predisposition 70

Characteristics:

Orphanet epidemiological data:

58
familial isolated pituitary adenoma
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 D35.2
UMLS via Orphanet 71 C1863340
Orphanet 58 ORPHA314777
UMLS 70 C0220744 C1863340 C2676191

Summaries for Familial Isolated Pituitary Adenoma

MedlinePlus Genetics : 43 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.Tumors that form in the pituitary gland can release excess levels of one or more hormones, although some tumors do not produce hormones (nonfunctioning pituitary adenomas). Those that do are typically distinguished by the particular hormones they produce. Prolactinomas are the most common tumors in FIPA. These tumors release prolactin, a hormone that stimulates breast milk production in females. Both women and men can develop prolactinomas, although they are more common in women. In women, these tumors may lead to changes in the menstrual cycle or difficulty becoming pregnant. Some affected women may produce breast milk, even though they are not pregnant or nursing. In men, prolactinomas may cause erectile dysfunction or decreased interest in sex. Rarely, affected men produce breast milk. Large prolactinomas can press on nearby tissues such as the nerves that carry information from the eyes to the brain (the optic nerves), causing problems with vision.Another type of tumor called somatotropinoma is also common in FIPA. These tumors release growth hormone (also called somatotropin), which promotes growth of the body. Somatotropinomas in children or adolescents can lead to increased height (gigantism), because the long bones of their arms and legs are still growing. In adults, growth of the long bones has stopped, but the tumors can cause overgrowth of the hands, feet, and face (acromegaly) as well as other tissues.Less common tumor types in FIPA include somatolactotropinomas, nonfunctioning pituitary adenomas, adrenocorticotropic hormone-secreting tumors (which cause a condition known as Cushing disease), thyrotropinomas, and gonadotropinomas. In a family with the condition, affected members can develop the same type of tumor (homogenous FIPA) or different types (heterogenous FIPA).In FIPA, pituitary tumors usually occur at a younger age than sporadic pituitary adenomas, which are not inherited. In general, FIPA tumors are also larger than sporadic pituitary tumors. Often, people with FIPA have macroadenomas, which are tumors larger than 10 millimeters.Familial pituitary adenomas can occur as one of many features in other inherited conditions such as multiple endocrine neoplasia type 1 and Carney complex; however, in FIPA, the pituitary adenomas are described as isolated because only the pituitary gland is affected.

MalaCards based summary : Familial Isolated Pituitary Adenoma, also known as fipa, is related to pituitary adenoma 1, multiple types and acth-secreting pituitary adenoma. An important gene associated with Familial Isolated Pituitary Adenoma is AIP (Aryl Hydrocarbon Receptor Interacting Protein), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Aryl Hydrocarbon Receptor Pathway. Affiliated tissues include pituitary and breast, and related phenotypes are craniofacial and digestive/alimentary

Related Diseases for Familial Isolated Pituitary Adenoma

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 pituitary adenoma 1, multiple types 32.5 MEN1 AIP
2 acth-secreting pituitary adenoma 31.6 MEN1 CDKN1B AIP
3 acromegaly 31.6 MEN1 CNC2 AIP
4 pituitary adenoma, prolactin-secreting 31.3 MEN1 LRP2 CDH23 AIP
5 hormone producing pituitary cancer 30.5 MEN1 AIP
6 pituitary apoplexy 30.1 MEN1 AIP
7 pituitary tumors 30.1 MEN1 CNC2 AIP
8 growth hormone secreting pituitary adenoma 30.1 MEN1 AIP
9 pituitary adenoma 30.0 MEN1 CDKN1B CDH23 AIP
10 multiple endocrine neoplasia 29.9 MEN1 CNC2 CDKN1B AIP
11 multiple endocrine neoplasia, type i 29.9 MEN1 CNC2 CDKN1B AIP
12 carney complex variant 29.8 MEN1 CNC2 CDKN1B AIP
13 multiple endocrine neoplasia, type iv 29.8 MEN1 CDKN1B AIP
14 gastrointestinal defects and immunodeficiency syndrome 11.4
15 adenoma 10.6
16 aip familial isolated pituitary adenomas 10.2
17 gigantism 10.2
18 null pituitary adenoma 10.1 MEN1 AIP
19 silent pituitary adenoma 10.1 MEN1 AIP
20 pituitary infarct 10.1 MEN1 AIP
21 hyperpituitarism 10.1 MEN1 AIP
22 hypogonadism 10.0
23 hypopituitarism 10.0
24 somatomammotropinoma 10.0
25 functioning pituitary adenoma 10.0 MEN1 AIP
26 hyperparathyroidism 10.0 MEN1 CDKN1B
27 acroleukopathy, symmetric 10.0
28 meningioma, familial 10.0
29 tumor predisposition syndrome 10.0
30 cutaneous telangiectasia and cancer syndrome, familial 10.0
31 intracranial meningioma 10.0
32 secretory meningioma 10.0
33 lymphoplasmacyte-rich meningioma 10.0
34 inherited cancer-predisposing syndrome 10.0
35 small intestine neuroendocrine neoplasm 10.0 MEN1 CDKN1B
36 small intestine benign neoplasm 10.0 MEN1 CDKN1B
37 pituitary gland disease 10.0 MEN1 AIP
38 endocrine organ benign neoplasm 10.0 MEN1 AIP
39 familial hypocalciuric hypercalcemia 10.0 MEN1 CDKN1B
40 multiple endocrine neoplasia, type iia 10.0 MEN1 CDKN1B
41 parathyroid adenoma 9.9 MEN1 CDKN1B
42 primary pigmented nodular adrenocortical disease 9.9 MEN1 CNC2
43 follicular adenoma 9.9 MEN1 CDKN1B
44 pituitary adenoma 4, acth-secreting 9.9 CDH23 AIP
45 chromosome xq26.3 duplication syndrome 9.9
46 autosomal recessive disease 9.9
47 periodontitis 9.9
48 cell type benign neoplasm 9.8 MEN1 AIP
49 neuroendocrine tumor 9.8 MEN1 CDKN1B
50 stickler syndrome 9.7 LRP2 CDH23

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

MGI Mouse Phenotypes related to Familial Isolated Pituitary Adenoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 CDH23 CDKN1B LRP2 MEN1
2 digestive/alimentary MP:0005381 8.92 CDH23 CDKN1B LRP2 MEN1

Drugs & Therapeutics for Familial Isolated Pituitary Adenoma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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:

40
Pituitary, Breast

Publications for Familial Isolated Pituitary Adenoma

Articles related to Familial Isolated Pituitary Adenoma:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Genetics of Acromegaly and Gigantism. 61
33805450 2021
2
The clinical aspects of pituitary tumour genetics. 61
33543431 2021
3
AIP variant causing familial prolactinoma. 61
33010004 2021
4
Pituitary tumors: genetic and molecular factors underlying pathogenesis and clinical behavior. 61
33524974 2021
5
A Cohort Study on Associations between Fundus/intraocular Pressure Abnormality and Medical Check-up Items. 61
33026255 2020
6
Differentiated thyroid carcinoma in sporadic and familial presentations of acromegaly: A case series. 61
32822652 2020
7
HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: The roles of AIP and GPR101 in familial isolated pituitary adenomas (FIPA). 61
32083999 2020
8
Clinical and Molecular Update on Genetic Causes of Pituitary Adenomas. 61
32299111 2020
9
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors. 61
31996917 2020
10
Pituitary Disease in AIP Mutation-Positive Familial Isolated Pituitary Adenoma (FIPA): A Kindred-Based Overview. 61
32604740 2020
11
The role of AIP variants in pituitary adenomas and concomitant thyroid carcinomas in the Netherlands: a nationwide pathology registry (PALGA) study. 61
32333269 2020
12
Tetrapod Polymersomes. 61
32149515 2020
13
Chaperones, somatotroph tumors and the cyclic AMP (cAMP)-dependent protein kinase (PKA) pathway. 61
31586652 2020
14
[Clinical and genetic studies of a three-member familial isolated pituitary adenoma with homogeneous prolactinomas]. 61
32282328 2020
15
The Genetics of Pituitary Adenomas. 61
31877737 2019
16
Insights into pituitary tumorigenesis: from Sanger sequencing to next-generation sequencing and beyond. 61
31793361 2019
17
Implementation of Software Agents and Advanced AoA for Disease Data Analysis. 61
31280376 2019
18
Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia). 61
31365626 2019
19
AIP and MEN1 mutations and AIP immunohistochemistry in pituitary adenomas in a tertiary referral center. 61
30822274 2019
20
AIP-mutated acromegaly resistant to first-generation somatostatin analogs: long-term control with pasireotide LAR in two patients. 61
30851160 2019
21
A Novel Mutation of Aryl Hydrocarbon Receptor Interacting Protein Gene Associated with Familial Isolated Pituitary Adenoma Mediates Tumor Invasion and Growth Hormone Hypersecretion. 61
30447469 2019
22
Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects. 61
30530903 2019
23
Three Novel MEN1 Variants in AIP-Negative Familial Isolated Pituitary Adenoma Patients. 61
30630164 2019
24
An update on the genetics of benign pituitary adenomas in children and adolescents. 61
30555957 2018
25
Interaction of AIP with protein kinase A (cAMP-dependent protein kinase). 61
29726992 2018
26
Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family. 61
29849625 2018
27
Frequency of familial pituitary adenoma syndromes among patients with functioning pituitary adenomas in a reference outpatient clinic. 61
28689311 2017
28
AIP mutations and gigantism. 61
28483363 2017
29
Role of Phosphodiesterases on the Function of Aryl Hydrocarbon Receptor-Interacting Protein (AIP) in the Pituitary Gland and on the Evaluation of AIP Gene Variants. 61
28427099 2017
30
Somatotroph-Specific Aip-Deficient Mice Display Pretumorigenic Alterations in Cell-Cycle Signaling. 61
29264469 2017
31
vhMentor: An Ontology Supported Mobile Agent System for Pervasive Health Care Monitoring. 61
28971416 2017
32
Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature. 61
29022641 2017
33
[Overgrowth in children and in adults: novel clinical view, novel genes, novel phenotypes]. 61
28992707 2017
34
Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study. 61
26815903 2016
35
Screening for genetic causes of growth hormone hypersecretion. 61
27756606 2016
36
Genetics of gigantism and acromegaly. 61
27657986 2016
37
A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred. 61
27838609 2016
38
Whole-exome identifies RXRG and TH germline variants in familial isolated prolactinoma. 61
27245436 2016
39
cAMP-specific PDE4 phosphodiesterases and AIP in the pathogenesis of pituitary tumors. 61
27267386 2016
40
Morphological analysis of Francisella novicida epithelial cell infections in the absence of functional FipA. 61
26239909 2016
41
Pituitary gigantism: Causes and clinical characteristics. 61
26585365 2015
42
[Old phenotype and new genotypes. Pituitary adenomas]. 61
26738269 2015
43
Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients. 61
26187128 2015
44
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers. 61
26186299 2015
45
Olfactory dysfunction in neuromyelitis optica spectrum disorders. 61
26016684 2015
46
Do the aryl hydrocarbon receptor interacting protein variants (Q228K and Q307R) play a role in patients with familial and sporadic hormone-secreting pituitary adenomas? 61
25938168 2015
47
Familial isolated pituitary adenomas (FIPA) and mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. 61
25732638 2015
48
Keeping it in the family: intergenerational transmission of violence in Cebu, Philippines. 61
25055760 2015
49
Molecular genetic advances in pituitary tumor development. 61
30289047 2015
50
A novel germline mutation in the aryl hydrocarbon receptor-interacting protein (AIP) gene in an Italian family with gigantism. 61
24996936 2014

Variations for Familial Isolated Pituitary Adenoma

ClinVar genetic disease variations for Familial Isolated Pituitary Adenoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP2 NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter) SNV Likely pathogenic 374076 rs202057289 GRCh37: 2:169985570-169985570
GRCh38: 2:169129060-169129060
2 AIP NM_003977.4(AIP):c.3G>A (p.Met1Ile) SNV Likely pathogenic 253315 rs886037871 GRCh37: 11:67250632-67250632
GRCh38: 11:67483161-67483161
3 AIP NM_003977.4(AIP):c.469-17T>C SNV Uncertain significance 253316 rs886037872 GRCh37: 11:67257492-67257492
GRCh38: 11:67490021-67490021
4 GNAI2 NM_002070.4(GNAI2):c.879G>A (p.Gly293=) SNV Uncertain significance 869193 GRCh37: 3:50294933-50294933
GRCh38: 3:50257501-50257501
5 AIP NM_003977.4(AIP):c.660C>T (p.Ser220=) SNV Uncertain significance 305730 rs776495655 GRCh37: 11:67257801-67257801
GRCh38: 11:67490330-67490330

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
11.69 MEN1 LRP2 CDKN1B AIP
2 10.84 CDKN1B AIP
3 10.64 CDKN1B AIP

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 negative regulation of epithelial cell proliferation GO:0050680 9.26 MEN1 CDKN1B
2 negative regulation of cell cycle GO:0045786 9.16 MEN1 CDKN1B
3 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 8.96 MEN1 CDKN1B
4 sensory perception of sound GO:0007605 8.8 LRP2 CDKN1B CDH23

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

# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 8.62 LRP2 CDKN1B

Sources for Familial Isolated Pituitary Adenoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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