PITA1
MCID: PTT056
MIFTS: 58

Pituitary Adenoma 1, Multiple Types (PITA1)

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

Aliases & Classifications for Pituitary Adenoma 1, Multiple Types

MalaCards integrated aliases for Pituitary Adenoma 1, Multiple Types:

Name: Pituitary Adenoma 1, Multiple Types 56 73
Pituitary Adenoma Predisposition 56 29 6 71
Acromegaly Due to Pituitary Adenoma 1 56 73
Isolated Familial Somatotropinoma 56 73
Somatotrophinoma, Familial 56 71
Pituitary Gigantism 58 36
Pita1 56 73
Pagh1 56 73
Fis 56 73
Ifs 56 73
Adenoma, Pituitary, Growth Hormone-Secreting, Type 1 39
Pituitary Adenoma, Growth Hormone-Secreting, 1 73
Infantile and Juvenile Forms of Acromegaly 58
Somatotropinoma, Familial Isolated; Fis 56
Isolated Familial Somatotropinoma; Ifs 56
Pituitary Adenoma, Familial Isolated 71
Familial Isolated Pituitary Adenoma 73
Acromegaly Due to Pituitary Adenoma 73
Somatotropinoma, Familial Isolated 56
Multiple Gastrointestinal Atresias 71
Familial Isolated Somatotropinomas 73
Familial Somatotrophinoma 73
Hypophyseal Gigantism 58
Somatotropic Adenoma 58
Gigantism Pituitary 54
Somatotropinoma 58
Gigantism 71
Fipa 73

Characteristics:

OMIM:

56
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
onset in second or third decades


HPO:

31
pituitary adenoma 1, multiple types:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

OMIM 56 102200
OMIM Phenotypic Series 56 PS102200
KEGG 36 H01618
MESH via Orphanet 44 D005877
ICD10 via Orphanet 33 D35.2 E22.0
UMLS via Orphanet 72 C0017547 C0346302
UMLS 71 C0017547 C0220744 C1863340 more

Summaries for Pituitary Adenoma 1, Multiple Types

OMIM : 56 Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors. Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (139250)-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (176760)-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB; 188540)-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008). Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008). Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015). Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007). Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem. (102200)

MalaCards based summary : Pituitary Adenoma 1, Multiple Types, also known as pituitary adenoma predisposition, is related to traumatic brain injury and obsessive-compulsive disorder, and has symptoms including endocrine system signs and symptoms An important gene associated with Pituitary Adenoma 1, Multiple Types is AIP (Aryl Hydrocarbon Receptor Interacting Protein), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Relaxin signaling pathway. The drugs lanreotide and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and bone, and related phenotypes are coarse facial features and type ii diabetes mellitus

KEGG : 36 Pituitary gigantism is very rare conditions resulting from excessive secretion of growth hormone (GH). Most cases are due to benign pituitary adenomas. Nonadenomatous GH excess is exceptional but occasionally occurs in patients with multiple endocrine neoplasia syndrome type 1 (MEN1), Carney complex, or McCune-Albright syndrome. The clinical manifestations may include increased growth velocity with tall stature, enlargement of the hands and feet, excessive perspiration, coarsening of facial features, and headaches. It has been reported that duplication of GPR101 probably causes gigantism and acromegaly. Therapeutic modalities for the treatment of pituitary gigantism include surgery, medication and radiation.

UniProtKB/Swiss-Prot : 73 Pituitary adenoma 1, multiple types: A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid- stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported.

Related Diseases for Pituitary Adenoma 1, Multiple Types

Diseases in the Pituitary Adenoma family:

Pituitary Adenoma 1, Multiple Types Pituitary Adenoma 5, Multiple Types
Pituitary Adenoma 3, Multiple Types

Diseases related to Pituitary Adenoma 1, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1968)
# Related Disease Score Top Affiliating Genes
1 traumatic brain injury 32.1 IGF1 GH1
2 obsessive-compulsive disorder 31.3 SST PRL IGF1
3 hypothalamic disease 31.1 PRL GH1
4 diabetes insipidus, neurohypophyseal 31.1 PRL IGF1
5 hyperthyroidism 30.9 SST PRL IGF1 GH1
6 intracranial hypertension, idiopathic 30.9 IGF1 GH1
7 tetrahydrobiopterin deficiency 30.9 PRL GH1
8 adermatoglyphia 30.8 IGF1 GH1
9 pituitary hormone deficiency, combined, 2 30.7 PRL IGF1 GH1
10 laron syndrome 30.6 IGFBP3 IGF1 GH1
11 familial isolated pituitary adenoma 30.5 MEN1 AIP
12 galactorrhea 30.5 PRL IGF1
13 carcinoid syndrome 30.5 SST MEN1 IGF1
14 premature ovarian failure 1 30.5 PRL IGFBP3 IGF1
15 meningioma, familial 30.4 SST PRL MEN1 IGF1
16 pseudohypoparathyroidism, type ia 30.4 PRL IGF1 GH1
17 breast disease 30.4 PRL IGFBP3 IGF1
18 pituitary adenoma, prolactin-secreting 30.4 SST PRL MEN1 IGF1 GH1 AIP
19 diabetes mellitus, type i 30.4 SST IGFBP3 IGF1 GH1
20 multiple endocrine neoplasia, type iv 30.3 MEN1 AIP
21 conn's syndrome 30.2 SST PRL MEN1 IGF1 GH1
22 gigantism 30.2 PRL GH1 AIP
23 ovarian disease 30.1 PRL IGF1 GH1
24 nutritional deficiency disease 30.1 IGFBP3 IGF1 GH1
25 congenital hypothyroidism 30.1 PRL IGFBP3 IGF1 GH1
26 gastrointestinal stromal tumor 30.0 SST MEN1 IGFBP3
27 hydrocephalus 29.9 SST PRL IGFBP3 IGF1
28 multiple endocrine neoplasia, type i 29.8 SST PRL MEN1 AIP
29 hypopituitarism 29.8 PRL IGFBP3 IGF1 GH1
30 hypoglycemia 29.7 SST PRL IGFBP3 IGF1 GH1
31 primary hyperparathyroidism 29.7 PRL MEN1 IGF1
32 septooptic dysplasia 29.5 PRL IGFBP3 IGF1 GH1
33 sexual disorder 29.5 PRL IGF1
34 acidophil adenoma 29.4 SST PRL IGF1
35 carney complex variant 29.4 SST PRL MEN1 IGF1 AIP
36 acth-secreting pituitary adenoma 29.3 SST PRL MEN1 AIP
37 diabetes mellitus 29.3 SST PRL MEN1 IGFBP3 IGF1 GH1
38 diarrhea 29.2 TTC7A SST MEN1
39 hyperglycemia 29.2 SST IGF1 GH1
40 diffuse idiopathic skeletal hyperostosis 29.0 IGFBP3 IGF1
41 goiter 29.0 SST PRL IGF1
42 insulin-like growth factor i 28.9 PRL IGFBP3 IGF1 GH1
43 gastroparesis 28.9 SST PRL
44 pheochromocytoma 28.9 SST PRL MEN1 IGF1
45 growth hormone secreting pituitary adenoma 28.8 SST PRL MEN1 IGF1 AIP
46 fibrous dysplasia 28.8 SST PRL IGF1 GH1
47 hormone producing pituitary cancer 28.8 SST PRL MEN1 IGF1 AIP
48 thyroid gland disease 28.8 SST PRL IGF1
49 marasmus 28.6 IGFBP3 IGF1 GH1
50 pituitary tumors 28.6 SST PRL MEN1 IGF1 GH1 AIP

Graphical network of the top 20 diseases related to Pituitary Adenoma 1, Multiple Types:



Diseases related to Pituitary Adenoma 1, Multiple Types

Symptoms & Phenotypes for Pituitary Adenoma 1, Multiple Types

Human phenotypes related to Pituitary Adenoma 1, Multiple Types:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 type ii diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005978
3 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
4 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
5 hypertrophic cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001639
6 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
7 left ventricular hypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001712
8 large hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0001176
9 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
10 growth hormone excess 58 31 hallmark (90%) Very frequent (99-80%) HP:0000845
11 pituitary growth hormone cell adenoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0011760
12 long foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001833
13 proportionate tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0011407
14 premature pubarche 58 31 hallmark (90%) Very frequent (99-80%) HP:0012411
15 increased serum insulin-like growth factor 1 58 31 hallmark (90%) Very frequent (99-80%) HP:0030269
16 pituitary prolactin cell adenoma 58 31 frequent (33%) Frequent (79-30%) HP:0006767
17 amenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000141
18 increased circulating prolactin concentration 58 31 frequent (33%) Frequent (79-30%) HP:0000870
19 galactorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0100829
20 hypertension 31 HP:0000822
21 tall stature 58 Very frequent (99-80%)
22 cardiomyopathy 31 HP:0001638
23 irregular menstruation 31 HP:0000858
24 pituitary adenoma 31 HP:0002893
25 prolactinoma 31 HP:0040278

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
coarse facial features
mandibular enlargement

Cardiovascular Heart:
left ventricular hypertrophy
cardiomyopathy

Growth Height:
increased height

Skeletal Hands:
enlarged hands

Neurologic Central Nervous System:
anterior pituitary adenoma

Laboratory Abnormalities:
increased serum growth hormone levels
increased serum igf1
increased serum prolactin

Cardiovascular Vascular:
hypertension

Neoplasia:
pituitary adenoma
prolactinoma
somatotrophinoma

Chest Breasts:
galactorrhea from increased serum prolactin

Skeletal Feet:
enlarged feet

Endocrine Features:
acromegaly
menstrual irregularities
cushing disease due to increased acth secretion (less common)

Clinical features from OMIM:

102200

UMLS symptoms related to Pituitary Adenoma 1, Multiple Types:


endocrine system signs and symptoms

MGI Mouse Phenotypes related to Pituitary Adenoma 1, Multiple Types:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.73 AIP IGF1 IGFBP3 MEN1 PRL TTC7A
2 homeostasis/metabolism MP:0005376 9.7 AIP IGF1 IGFBP3 MEN1 PRL SST
3 liver/biliary system MP:0005370 9.35 AIP IGFBP3 MEN1 PRL TTC7A
4 neoplasm MP:0002006 9.02 AIP IGF1 MEN1 PRL TTC7A

Drugs & Therapeutics for Pituitary Adenoma 1, Multiple Types

Drugs for Pituitary Adenoma 1, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 4 108736-35-2
2 Hormones Phase 4
3 Angiopeptin Phase 4
4 Liver Extracts Phase 4
5
Pasireotide Approved Phase 3 396091-73-9 9941444
6
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
7 Hormone Antagonists Phase 3
8 Pharmaceutical Solutions Phase 3
9
gastric inhibitory polypeptide Investigational 100040-31-1
10 Anesthetics
11 Sildenafil Citrate 171599-83-0

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Pilot Study of Pre- and Post-operative Somatuline Depot Therapy in Acromegalic Patients Treated by Endonasal Endoscopic Surgery: Impact on Early Remission Rates and Perioperative Morbidity Terminated NCT01861717 Phase 4 lanreotide
2 A Phase IIIb Multicenter, Open-label, Single Arm Study to Evaluate the Efficacy and Safety of Pasireotide in Patients With Acromegaly Inadequately Controlled With First Generation Somatostatin Analogues Completed NCT02354508 Phase 3 Pasireotide LAR
3 An Open-Label Phase 3 Study of the Safety and Efficacy of Pegvisomant in Children With Growth Hormone Excess Recruiting NCT03882034 Phase 3 Pegvisomant
4 Multicenter Evaluation of the Effect of Upfront Radiosurgery on Residual Growth Hormone-secreting Pituitary Adenoma From an Endocrinological Point of View (MERGE Study): a Randomized, Phase 3 Trial Not yet recruiting NCT03439709 Phase 3 Lanreotide 60Mg Solution for Injection
5 A Multicenter, Open-label, Randomized, Phase II Study to Evaluate Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of Pasireotide LAR in Japanese Patients With Active Acromegaly or Pituitary Gigantism Completed NCT01673646 Phase 2 Pasireotide LAR
6 Investigation of Prevalence and Clinical Effects of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations With DNA Sequence Analysis in Acromegaly Patients in Turkey Unknown status NCT01902420
7 Interdisciplinary Pituitary Disorders Centre of Excellence: Assessment of Patient Education Tools Unknown status NCT01775332
8 Impact of a Physical Rehabilitation Program on the Quality of Life of Patients With Acromegaly: a Non-randomized Clinical Trial. Recruiting NCT03710499
9 Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA Recruiting NCT00461188
10 Modulating the Glucose-dependent Insulinotropic Polypeptide (GIP) System in Patients With Acromegaly Due to a Pituitary Tumor Recruiting NCT03807076
11 A Clinical and Genetic Investigation of Pituitary and HYPOTHALAMIC Tumors and Related Disorders Recruiting NCT00001595
12 Multi-center Observational Study on the Use of a Human Bone Graft in Epiphysiodesis Recruiting NCT04067895
13 Clinical Trial With Random Assignment to Evaluate the Efficacy and Safety of Radial Waves for the Treatment of Erectile Dysfunction Recruiting NCT03596047
14 Epidemiology of Pituitary Tumours: Prevalence of Associated Endocrine and Non-endocrine Tumours and Potential Implications in the Management and Follow-up of Patients" Not yet recruiting NCT03973450

Search NIH Clinical Center for Pituitary Adenoma 1, Multiple Types

Genetic Tests for Pituitary Adenoma 1, Multiple Types

Genetic tests related to Pituitary Adenoma 1, Multiple Types:

# Genetic test Affiliating Genes
1 Pituitary Adenoma Predisposition 29

Anatomical Context for Pituitary Adenoma 1, Multiple Types

MalaCards organs/tissues related to Pituitary Adenoma 1, Multiple Types:

40
Pituitary, Thyroid, Bone, Liver, Breast, Prostate, Testes

Publications for Pituitary Adenoma 1, Multiple Types

Articles related to Pituitary Adenoma 1, Multiple Types:

(show top 50) (show all 66)
# Title Authors PMID Year
1
Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma. 56 61 6
17341560 2007
2
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. 6 56 61
17360484 2007
3
Pituitary adenoma predisposition caused by germline mutations in the AIP gene. 61 6 56
16728643 2006
4
AIP mutation in pituitary adenomas in the 18th century and today. 6 56
21208107 2011
5
Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. 6 56
17299063 2007
6
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. 6 56
17244780 2007
7
New information concerning the Irish giant. 56 6
5320367 1965
8
Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients. 56
26187128 2015
9
The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease. 56
25942478 2015
10
Gigantism, acromegaly, and GPR101 mutations. 56
25806920 2015
11
AIP Familial Isolated Pituitary Adenomas 6
22720333 2012
12
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. 56
20506337 2010
13
The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas. 56
18381572 2008
14
Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumors. 56
18200440 2008
15
A growth hormone receptor mutation impairs growth hormone autofeedback signaling in pituitary tumors. 56
17671221 2007
16
Tumor deletion mapping on chromosome 11q13 in eight families with isolated familial somatotropinoma and in 15 sporadic somatotropinomas. 56
16189251 2005
17
Clinical practice. Prolactinoma. 56
14627789 2003
18
Cardiovascular consequences of early-onset growth hormone excess. 56
12107207 2002
19
The relationship between serum GH and serum IGF-I in acromegaly is gender-specific. 56
11701684 2001
20
Study of the multiple endocrine neoplasia type 1, growth hormone-releasing hormone receptor, Gs alpha, and Gi2 alpha genes in isolated familial acromegaly. 56
11158006 2001
21
Isolated familial somatotropinomas: does the disease map to 11q13 or to 2p16? 56
11134164 2000
22
Isolated familial somatotropinomas: establishment of linkage to chromosome 11q13.1-11q13.3 and evidence for a potential second locus at chromosome 2p16-12. 56
10690880 2000
23
Familial acromegaly: case report and review of the literature. 56
11081208 1999
24
Loss of heterozygosity on chromosome 11q13 in two families with acromegaly/gigantism is independent of mutations of the multiple endocrine neoplasia type I gene. 56
9920092 1999
25
Genetic basis of endocrine disease: pituitary tumor pathogenesis. 56
9177361 1997
26
Circulating non-22-kilodalton growth hormone isoforms in acromegalic men before and after transsphenoidal surgery. 56
9141543 1997
27
Cardiac involvement in acromegaly: specific myocardiopathy or consequence of systemic hypertension? 56
9100571 1997
28
Familial prolactinoma. 56
7621566 1995
29
Growth hormone-, alpha-subunit and thyrotrophin-cosecreting pituitary adenoma in familial setting of pituitary tumour. 56
8109184 1993
30
Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations. 56
8514889 1993
31
Familial acromegaly: studies in three families. 56
2200621 1990
32
Familial acromegaly. 56
2773624 1989
33
Familial acromegaly with pituitary adenoma. Report of three affected siblings. 56
3950729 1986
34
Familial acromegaly. 56
6723082 1984
35
Hypersomatotropism and acanthosis nigricans in two brothers. 56
4843205 1974
36
Large-scale second-hit AIP deletion causing a pediatric growth hormone-secreting pituitary adenoma: Case report and review of literature. 61
32336638 2020
37
Phenotypic and genotypic features of a large kindred with a germline AIP variant. 61
32324286 2020
38
Surgery, Octreotide, Temozolomide, Bevacizumab, Radiotherapy, and Pegvisomant Treatment of an AIP Mutation‒Positive Child. 61
31125088 2019
39
AIP inactivation leads to pituitary tumorigenesis through defective Gαi-cAMP signaling. 61
24662816 2015
40
The AIP (aryl hydrocarbon receptor-interacting protein) gene and its relation to the pathogenesis of pituitary adenomas. 61
24366639 2014
41
Should aip gene screening be recommended in family members of FIPA patients with R16H variant? 61
22915287 2013
42
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. 61
23371967 2013
43
The molecular pathogenesis of corticotroph tumours. 61
22098190 2012
44
Overview of genetic testing in patients with pituitary adenomas. 61
22503805 2012
45
Structure of the TPR domain of AIP: lack of client protein interaction with the C-terminal α-7 helix of the TPR domain of AIP is sufficient for pituitary adenoma predisposition. 61
23300914 2012
46
No evidence of RET germline mutations in familial pituitary adenoma. 61
20956458 2011
47
Concomitant deletions of tumor suppressor genes MEN1 and AIP are essential for the pathogenesis of the brown fat tumor hibernoma. 61
21078971 2010
48
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. 61
20685857 2010
49
Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression. 61
20709796 2010
50
Role of the aryl hydrocarbon receptor-interacting protein in familial isolated pituitary adenoma. 61
30764022 2010

Variations for Pituitary Adenoma 1, Multiple Types

ClinVar genetic disease variations for Pituitary Adenoma 1, Multiple Types:

6 (show top 50) (show all 282) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AIP NM_003977.4(AIP):c.40C>T (p.Gln14Ter)SNV Pathogenic 4886 rs104894194 11:67250669-67250669 11:67483198-67483198
2 AIP NM_003977.4(AIP):c.910C>T (p.Arg304Ter)SNV Pathogenic 4888 rs104894195 11:67258381-67258381 11:67490910-67490910
3 TTC7A NM_020458.4(TTC7A):c.2470C>T (p.Gln824Ter)SNV Pathogenic 369683 rs1057516047 2:47300955-47300955 2:47073816-47073816
4 TTC7A NM_020458.4(TTC7A):c.1183dup (p.Gln395fs)duplication Pathogenic 284148 rs886042806 2:47233177-47233178 2:47006038-47006039
5 TTC7A NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter)SNV Pathogenic 284147 rs886042805 2:47177603-47177603 2:46950464-46950464
6 TTC7A NM_020458.4(TTC7A):c.2494G>A (p.Ala832Thr)SNV Pathogenic 190394 rs876657393 2:47300979-47300979 2:47073840-47073840
7 TTC7A NM_020458.4(TTC7A):c.1576C>T (p.Gln526Ter)SNV Pathogenic 190393 rs786205698 2:47251433-47251433 2:47024294-47024294
8 TTC7A NM_020458.4(TTC7A):c.1204-2A>GSNV Pathogenic 190392 rs876657392 2:47233778-47233778 2:47006639-47006639
9 TTC7A NM_020458.4(TTC7A):c.844-1G>TSNV Pathogenic 190391 rs777469885 2:47221495-47221495 2:46994356-46994356
10 TTC7A NM_020458.4(TTC7A):c.315_318del (p.Asn104_Tyr105insTer)deletion Pathogenic 190390 rs886037747 2:47177630-47177633 2:46950491-46950494
11 TTC7A NM_020458.4(TTC7A):c.764+1deldeletion Pathogenic 190389 rs886037746 2:47206047-47206047 2:46978905-46978905
12 TTC7A NM_020458.4(TTC7A):c.1510+105T>ASNV Pathogenic 140581 rs587777551 2:47249223-47249223 2:47022084-47022084
13 TTC7A NM_020458.4(TTC7A):c.1673_1674insG (p.Leu559fs)insertion Pathogenic 140580 rs587777550 2:47256394-47256395 2:47029255-47029256
14 TTC7A NM_020458.4(TTC7A):c.1481del (p.Gly494fs)deletion Pathogenic 140579 rs587777549 2:47249087-47249087 2:47021948-47021948
15 TTC7A NM_020458.4(TTC7A):c.1008C>G (p.Tyr336Ter)SNV Pathogenic 140578 rs587777548 2:47222281-47222281 2:46995142-46995142
16 TTC7A NM_020458.4(TTC7A):c.829C>T (p.Gln277Ter)SNV Pathogenic 140577 rs587777547 2:47220653-47220653 2:46993514-46993514
17 AIP NM_003977.4(AIP):c.811C>T (p.Arg271Trp)SNV Pathogenic 41210 rs267606579 11:67258282-67258282 11:67490811-67490811
18 AIP NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup)duplication Pathogenic 41208 rs267606578 11:67258273-67258274 11:67490802-67490803
19 AIP NM_003977.4(AIP):c.490C>T (p.Gln164Ter)SNV Pathogenic 41185 rs104895073 11:67257530-67257530 11:67490059-67490059
20 AIP NM_003977.4(AIP):c.241C>T (p.Arg81Ter)SNV Pathogenic 41167 rs267606541 11:67254618-67254618 11:67487147-67487147
21 AIP NM_003977.4(AIP):c.721A>G (p.Lys241Glu)SNV Pathogenic 41200 rs267606573 11:67257862-67257862 11:67490391-67490391
22 TTC7A NM_020458.4(TTC7A):c.1072C>T (p.Arg358Ter)SNV Pathogenic 659060 2:47233067-47233067 2:47005928-47005928
23 TTC7A NM_020458.4(TTC7A):c.1039dup (p.Leu347fs)duplication Pathogenic 659629 2:47222310-47222311 2:46995171-46995172
24 TTC7A NM_020458.4(TTC7A):c.280A>T (p.Lys94Ter)SNV Pathogenic 640974 2:47177597-47177597 2:46950458-46950458
25 MEN1 NM_000244.3(MEN1):c.1846T>A (p.Ter616Arg)SNV Pathogenic 446502 rs1565635212 11:64571808-64571808 11:64804336-64804336
26 TTC7A NM_020458.4(TTC7A):c.2515G>A (p.Ala839Thr)SNV Pathogenic 440891 rs202044972 2:47301000-47301000 2:47073861-47073861
27 TTC7A NM_020458.4(TTC7A):c.1616C>T (p.Ser539Leu)SNV Pathogenic 440890 rs776906926 2:47251473-47251473 2:47024334-47024334
28 TTC7A NM_020458.4(TTC7A):c.1001+3_1001+6delshort repeat Pathogenic 50608 rs587776971 2:47221652-47221655 2:46994513-46994516
29 TTC7A NM_020458.4(TTC7A):c.1250G>A (p.Trp417Ter)SNV Pathogenic/Likely pathogenic 578081 rs1558568116 2:47233826-47233826 2:47006687-47006687
30 AIP NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del)deletion Pathogenic/Likely pathogenic 4889 rs267606567 11:67250695-67250700 11:67483224-67483229
31 AIP NM_003977.4(AIP):c.543del (p.Ile182fs)deletion Pathogenic/Likely pathogenic 4891 rs267606559 11:67257582-67257582 11:67490111-67490111
32 AIP NM_003977.4(AIP):c.824dup (p.His275fs)duplication Pathogenic/Likely pathogenic 4890 rs267606580 11:67258294-67258295 11:67490823-67490824
33 AIP NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)SNV Pathogenic/Likely pathogenic 4892 rs121908356 11:67258275-67258275 11:67490804-67490804
34 AIP NM_003977.4(AIP):c.469-1G>ASNV Pathogenic/Likely pathogenic 4887 rs267606555 11:67257508-67257508 11:67490037-67490037
35 AIP NM_003977.4(AIP):c.64C>T (p.Arg22Ter)SNV Pathogenic/Likely pathogenic 4894 rs121908357 11:67250693-67250693 11:67483222-67483222
36 AIP NM_003977.4(AIP):c.715C>T (p.Gln239Ter)SNV Likely pathogenic 41199 rs267606571 11:67257856-67257856 11:67490385-67490385
37 AIP NM_003977.4(AIP):c.721A>T (p.Lys241Ter)SNV Likely pathogenic 41201 rs267606573 11:67257862-67257862 11:67490391-67490391
38 AIP NM_003977.4(AIP):c.739_741TAC[1] (p.Tyr248del)short repeat Likely pathogenic 41202 rs267606574 11:67257880-67257882 11:67490409-67490411
39 AIP NM_003977.4(AIP):c.769A>G (p.Ile257Val)SNV Likely pathogenic 41204 rs267606575 11:67257910-67257910 11:67490439-67490439
40 AIP NM_003977.4(AIP):c.286_287del (p.Val96fs)deletion Likely pathogenic 41172 rs267606545 11:67256744-67256745 11:67489273-67489274
41 AIP NM_003977.4(AIP):c.2T>C (p.Met1Thr)SNV Likely pathogenic 41173 rs267606546 11:67250631-67250631 11:67483160-67483160
42 AIP NM_003977.4(AIP):c.646G>T (p.Glu216Ter)SNV Likely pathogenic 41193 rs267606565 11:67257787-67257787 11:67490316-67490316
43 AIP NM_003977.4(AIP):c.649C>T (p.Gln217Ter)SNV Likely pathogenic 41194 rs267606566 11:67257790-67257790 11:67490319-67490319
44 AIP NM_003977.4(AIP):c.3G>A (p.Met1Ile)SNV Likely pathogenic 253315 rs886037871 11:67250632-67250632 11:67483161-67483161
45 TTC7A NM_020458.4(TTC7A):c.518-914_588deldeletion Likely pathogenic 848991 2:47201193-47202177 2:46974054-46975038
46 AIP NM_003977.4(AIP):c.854_857del (p.Gln285fs)deletion Likely pathogenic 41213 rs267606582 11:67258324-67258327 11:67490853-67490856
47 AIP NM_003977.4(AIP):c.829G>C (p.Ala277Pro)SNV Likely pathogenic 41212 rs267606581 11:67258300-67258300 11:67490829-67490829
48 AIP NM_003977.4(AIP):c.919dup (p.Arg307fs)duplication Likely pathogenic 41215 rs267606589 11:67258389-67258390 11:67490918-67490919
49 AIP NM_003977.4(AIP):c.713G>A (p.Cys238Tyr)SNV Likely pathogenic 41197 rs267606569 11:67257854-67257854 11:67490383-67490383
50 AIP NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer)duplication Likely pathogenic 41195 rs104895075 11:67257799-67257800 11:67490328-67490329

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Adenoma 1, Multiple Types:

73
# Symbol AA change Variation ID SNP ID
1 AIP p.Arg304Gln VAR_043913 rs104894190

Cosmic variations for Pituitary Adenoma 1, Multiple Types:

9 (show top 50) (show all 68)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87132301 PIK3CA pituitary,NS,adenoma,PRL c.1624G>A p.E542K 3:179218294-179218294 42
2 COSM87132318 PIK3CA pituitary,NS,adenoma,PRL c.3073A>G p.T1025A 3:179234230-179234230 42
3 COSM92072553 MEN1 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 42
4 COSM112988917 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 42
5 COSM112988978 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 42
6 COSM93760866 GNAS pituitary,NS,adenoma,GH c.2530C>T p.R844C 20:58909365-58909365 42
7 COSM93761460 GNAS pituitary,NS,adenoma,GH c.2609A>T p.Q870L 20:58909541-58909541 42
8 COSM93760887 GNAS pituitary,NS,adenoma,GH c.2531G>A p.R844H 20:58909366-58909366 42
9 COSM93761140 GNAS pituitary,NS,adenoma,GH c.2530C>A p.R844S 20:58909365-58909365 42
10 COSM93761837 GNAS pituitary,NS,adenoma,GH c.2609A>G p.Q870R 20:58909541-58909541 42
11 COSM87642925 pituitary,NS,adenoma,GH c.94-402C>T p.? 20:58909365-58909365 42
12 COSM93086636 pituitary,NS,adenoma,GH c.604C>T p.R202C 20:58909365-58909365 42
13 COSM93726285 pituitary,NS,adenoma,GH c.559C>T p.R187C 20:58909365-58909365 42
14 COSM93726301 pituitary,NS,adenoma,GH c.560G>A p.R187H 20:58909366-58909366 42
15 COSM89474843 pituitary,NS,adenoma,GH c.*504C>T p.? 20:58909365-58909365 42
16 COSM93702294 pituitary,NS,adenoma,GH c.680A>T p.Q227L 20:58909541-58909541 42
17 COSM85345852 pituitary,NS,adenoma,GH c.557G>A p.R186H 20:58909366-58909366 42
18 COSM93702186 pituitary,NS,adenoma,GH c.601C>A p.R201S 20:58909365-58909365 42
19 COSM93701978 pituitary,NS,adenoma,GH c.602G>A p.R201H 20:58909366-58909366 42
20 COSM105721467 pituitary,NS,adenoma,PRL c.35G>T p.G12V 11:534288-534288 42
21 COSM89475256 pituitary,NS,adenoma,GH c.*583A>T p.? 20:58909541-58909541 42
22 COSM90429831 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 42
23 COSM99575811 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 42
24 COSM100173638 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 42
25 COSM105721542 pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 42
26 COSM92200375 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 42
27 COSM148932735 pituitary,NS,adenoma,PRL c.*153A>G p.? 3:179234230-179234230 42
28 COSM148932717 pituitary,NS,adenoma,PRL c.1624G>A p.E542K 3:179218294-179218294 42
29 COSM85346108 pituitary,NS,adenoma,GH c.556C>A p.R186S 20:58909365-58909365 42
30 COSM93779884 pituitary,NS,adenoma,GH c.2488C>A p.R830S 20:58909365-58909365 42
31 COSM93630552 pituitary,NS,adenoma,GH c.*507C>A p.? 20:58909365-58909365 42
32 COSM89475620 pituitary,NS,adenoma,GH c.*583A>G p.? 20:58909541-58909541 42
33 COSM100204187 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 42
34 COSM93702535 pituitary,NS,adenoma,GH c.680A>G p.Q227R 20:58909541-58909541 42
35 COSM91331236 pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 42
36 COSM93631069 pituitary,NS,adenoma,GH c.*586A>G p.? 20:58909541-58909541 42
37 COSM93086861 pituitary,NS,adenoma,GH c.604C>A p.R202S 20:58909365-58909365 42
38 COSM87643227 pituitary,NS,adenoma,GH c.94-226A>T p.? 20:58909541-58909541 42
39 COSM87643479 pituitary,NS,adenoma,GH c.94-226A>G p.? 20:58909541-58909541 42
40 COSM89474878 pituitary,NS,adenoma,GH c.*505G>A p.? 20:58909366-58909366 42
41 COSM93726964 pituitary,NS,adenoma,GH c.638A>G p.Q213R 20:58909541-58909541 42
42 COSM89475152 pituitary,NS,adenoma,GH c.*504C>A p.? 20:58909365-58909365 42
43 COSM85346567 pituitary,NS,adenoma,GH c.635A>G p.Q212R 20:58909541-58909541 42
44 COSM101967337 pituitary,NS,adenoma,PRL c.35G>T p.G12V 11:534288-534288 42
45 COSM93086649 pituitary,NS,adenoma,GH c.605G>A p.R202H 20:58909366-58909366 42
46 COSM101951679 pituitary,NS,adenoma,PRL c.35G>T p.G12V 11:534288-534288 42
47 COSM93780281 pituitary,NS,adenoma,GH c.2567A>G p.Q856R 20:58909541-58909541 42
48 COSM93779988 pituitary,NS,adenoma,GH c.2567A>T p.Q856L 20:58909541-58909541 42
49 COSM93779631 pituitary,NS,adenoma,GH c.2489G>A p.R830H 20:58909366-58909366 42
50 COSM93086945 pituitary,NS,adenoma,GH c.683A>T p.Q228L 20:58909541-58909541 42

Expression for Pituitary Adenoma 1, Multiple Types

Search GEO for disease gene expression data for Pituitary Adenoma 1, Multiple Types.

Pathways for Pituitary Adenoma 1, Multiple Types

GO Terms for Pituitary Adenoma 1, Multiple Types

Cellular components related to Pituitary Adenoma 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.65 SST PRL IGFBP3 IGF1 GH1
2 endosome lumen GO:0031904 9.16 PRL GH1
3 insulin-like growth factor ternary complex GO:0042567 8.96 IGFBP3 IGF1
4 insulin-like growth factor binding protein complex GO:0016942 8.62 IGFBP3 IGF1

Biological processes related to Pituitary Adenoma 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to heat GO:0009408 9.37 SST IGF1
2 positive regulation of JAK-STAT cascade GO:0046427 9.32 PRL GH1
3 regulation of multicellular organism growth GO:0040014 9.26 PRL IGF1
4 cellular protein metabolic process GO:0044267 9.26 PRL MEN1 IGFBP3 IGF1
5 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.16 PRL GH1
6 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.8 IGFBP3 IGF1 GH1

Molecular functions related to Pituitary Adenoma 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 prolactin receptor binding GO:0005148 8.96 PRL GH1
2 hormone activity GO:0005179 8.92 SST PRL IGF1 GH1

Sources for Pituitary Adenoma 1, Multiple Types

3 CDC
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