PITA1
MCID: PTT056
MIFTS: 53

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 57 12 72
Pituitary Adenoma Predisposition 57 29 6 70
Isolated Familial Somatotropinoma 57 72 6
Pita1 57 12 72
Acromegaly Due to Pituitary Adenoma 1 57 72
Somatotrophinoma, Familial 57 70
Pituitary Adenoma 1 12 15
Pituitary Gigantism 58 36
Pagh1 57 72
Fis 57 72
Ifs 57 72
Adenoma, Pituitary, Growth Hormone-Secreting, Type 1 39
Pituitary Adenoma, Growth Hormone-Secreting, 1 72
Infantile and Juvenile Forms of Acromegaly 58
Somatotropinoma, Familial Isolated; Fis 57
Isolated Familial Somatotropinoma; Ifs 57
Pituitary Adenoma, Familial Isolated 70
Familial Isolated Pituitary Adenoma 72
Acromegaly Due to Pituitary Adenoma 72
Somatotropinoma, Familial Isolated 57
Multiple Gastrointestinal Atresias 70
Familial Isolated Somatotropinomas 72
Familial Somatotrophinoma 72
Hypophyseal Gigantism 58
Somatotropic Adenoma 58
Gigantism Pituitary 54
Somatotropinoma 58
Gigantism 70
Fipa 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

Disease Ontology 12 DOID:0112009
OMIM® 57 102200
OMIM Phenotypic Series 57 PS102200
KEGG 36 H01618
MESH via Orphanet 45 D005877
ICD10 via Orphanet 33 D35.2 E22.0
UMLS via Orphanet 71 C0017547 C0346302
UMLS 70 C0017547 C0220744 C1863340 more

Summaries for Pituitary Adenoma 1, Multiple Types

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Pituitary Adenoma 1, Multiple Types, also known as pituitary adenoma predisposition, is related to acth-secreting pituitary adenoma and pituitary adenoma 3, multiple types, 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, bone and liver, and related phenotypes are frontal bossing and hyperhidrosis

Disease Ontology : 12 A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has material basis in heterozygous mutation in AIP on chromosome 11q13.2.

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 : 72 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 231)
# Related Disease Score Top Affiliating Genes
1 acth-secreting pituitary adenoma 31.8 SST PRL MEN1 IGF1 AIP
2 pituitary adenoma 3, multiple types 31.7 SERPINB9 NLRP6
3 pituitary adenoma, prolactin-secreting 30.9 SST PRL MEN1 IGF1 GH1 AIP
4 galactorrhea 30.6 PRL IGF1
5 multiple endocrine neoplasia 30.6 SST MEN1 AIP
6 familial isolated pituitary adenoma 30.6 MEN1 AIP
7 hormone producing pituitary cancer 30.5 SST PRL MEN1 IGF1 AIP
8 multiple endocrine neoplasia, type iv 30.4 MEN1 AIP
9 multiple endocrine neoplasia, type i 30.4 SST PRL MEN1 AIP
10 gigantism 30.2 PRL GH1 AIP
11 carney complex variant 30.2 SST PRL MEN1 IGF1 AIP
12 acidophil adenoma 30.1 SST PRL IGF1
13 goiter 30.0 SST PRL IGF1
14 turner syndrome 29.9 IGFBP3 IGF1 GH1
15 insulin-like growth factor i 29.8 SST PRL IGFBP3 IGF1 GH1
16 pituitary tumors 29.8 SST PRL MEN1 IGF1 GH1 AIP
17 fibrous dysplasia 29.8 SST PRL IGF1 GH1
18 glucose intolerance 29.7 SST PRL IGF1 GH1
19 pheochromocytoma 29.7 SST PRL MEN1 IGF1
20 hyperprolactinemia 29.6 SST PRL IGF1 GH1
21 hyperthyroidism 29.6 SST PRL IGF1 GH1
22 type 1 diabetes mellitus 29.6 SST IGFBP3 IGF1 GH1
23 pituitary adenoma 29.6 SST PRL MEN1 IGF1 GH1 AIP
24 adenoma 29.6 SST PRL MEN1 IGF1 GH1 AIP
25 pituitary apoplexy 29.5 SST PRL MEN1 IGF1 GH1 AIP
26 acromegaly 29.5 SST PRL MEN1 IGFBP3 IGF1 GH1
27 hypoglycemia 29.5 SST PRL IGFBP3 IGF1 GH1
28 growth hormone secreting pituitary adenoma 29.4 SST SERPINB9 PRL MEN1 IGF1 AIP
29 mccune-albright syndrome 29.2 SST PRL MEN1 IGFBP3 IGF1 GH1
30 pituitary gland disease 29.1 SST PRL MEN1 IGFBP3 IGF1 GH1
31 gastrointestinal defects and immunodeficiency syndrome 11.4
32 pituitary adenoma 2, growth hormone-secreting 11.1
33 malignant growth hormone secreting neoplasm of pituitary 11.0
34 pituitary adenoma 5, multiple types 10.9
35 helix syndrome 10.4
36 null pituitary adenoma 10.4 MEN1 AIP
37 silent pituitary adenoma 10.4 MEN1 AIP
38 gastrointestinal neuroendocrine benign tumor 10.3 SST MEN1
39 non-functioning pancreatic endocrine tumor 10.3 SST MEN1
40 functionless pituitary adenoma 10.3 SST IGF1
41 duodenal gastrinoma 10.3 SST MEN1
42 gastric neuroendocrine neoplasm 10.3 SST MEN1
43 slipped capital femoral epiphysis 10.3 IGFBP3 IGF1
44 endocrine pancreas disease 10.3 SST MEN1
45 duodenal somatostatinoma 10.3 SST MEN1
46 somatostatinoma 10.3 SST MEN1
47 secondary adrenal insufficiency 10.3 IGFBP3 IGF1
48 pancreatic gastrinoma 10.3 SST MEN1
49 ectopic cushing syndrome 10.3 SST PRL
50 gastrointestinal neuroendocrine tumor 10.3 SST MEN1

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 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
3 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 type ii diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005978
5 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
6 hypertrophic cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001639
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®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
hypertension

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

Head And Neck Face:
coarse facial features
mandibular enlargement

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 (Updated 05-Apr-2021)

UMLS symptoms related to Pituitary Adenoma 1, Multiple Types:


endocrine system signs and symptoms

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 9)
# 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
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
6
Pasireotide Approved Phase 3 396091-73-9 9941444
7 Hormone Antagonists Phase 3
8 Pharmaceutical Solutions Phase 3
9
gastric inhibitory polypeptide Investigational 100040-31-1

Interventional clinical trials:

(show all 11)
# 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 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
4 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
5 Interdisciplinary Pituitary Disorders Centre of Excellence: Assessment of Patient Education Tools Unknown status NCT01775332
6 Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA Recruiting NCT00461188
7 Modulating the Glucose-dependent Insulinotropic Polypeptide (GIP) System in Patients With Acromegaly Due to a Pituitary Tumor Recruiting NCT03807076
8 Effects of Pituitary Adenoma Resection on Serum Lipid Level Recruiting NCT04021212
9 Multi-center Observational Study on the Use of a Human Bone Graft in Epiphysiodesis Recruiting NCT04067895
10 A Clinical and Genetic Investigation of Pituitary and HYPOTHALAMIC Tumors and Related Disorders Recruiting NCT00001595
11 A New Development Diagnostic Tool for ADHD: A VR Approach Enrolling by invitation NCT04337905

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, Bone, Liver, Breast, Prostate

Publications for Pituitary Adenoma 1, Multiple Types

Articles related to Pituitary Adenoma 1, Multiple Types:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma. 57 61 6
17341560 2007
2
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. 61 57 6
17360484 2007
3
Pituitary adenoma predisposition caused by germline mutations in the AIP gene. 57 6 61
16728643 2006
4
AIP mutation in pituitary adenomas in the 18th century and today. 6 57
21208107 2011
5
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. 6 57
17244780 2007
6
Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. 57 6
17299063 2007
7
New information concerning the Irish giant. 57 6
5320367 1965
8
Phenotypic and genotypic features of a large kindred with a germline AIP variant. 61 6
32324286 2020
9
Three Novel MEN1 Variants in AIP-Negative Familial Isolated Pituitary Adenoma Patients. 6
30630164 2019
10
Screening of AIP Gene Variations in a Cohort of Turkish Patients with Young-Onset Sporadic Hormone-Secreting Pituitary Adenomas. 6
30461320 2018
11
Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients. 57
26187128 2015
12
The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease. 57
25942478 2015
13
Gigantism, acromegaly, and GPR101 mutations. 57
25806920 2015
14
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. 57
20506337 2010
15
The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas. 57
18381572 2008
16
Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumors. 57
18200440 2008
17
A growth hormone receptor mutation impairs growth hormone autofeedback signaling in pituitary tumors. 57
17671221 2007
18
Tumor deletion mapping on chromosome 11q13 in eight families with isolated familial somatotropinoma and in 15 sporadic somatotropinomas. 57
16189251 2005
19
Clinical practice. Prolactinoma. 57
14627789 2003
20
Cardiovascular consequences of early-onset growth hormone excess. 57
12107207 2002
21
The relationship between serum GH and serum IGF-I in acromegaly is gender-specific. 57
11701684 2001
22
Study of the multiple endocrine neoplasia type 1, growth hormone-releasing hormone receptor, Gs alpha, and Gi2 alpha genes in isolated familial acromegaly. 57
11158006 2001
23
Isolated familial somatotropinomas: does the disease map to 11q13 or to 2p16? 57
11134164 2000
24
Isolated familial somatotropinomas: establishment of linkage to chromosome 11q13.1-11q13.3 and evidence for a potential second locus at chromosome 2p16-12. 57
10690880 2000
25
Familial acromegaly: case report and review of the literature. 57
11081208 1999
26
Loss of heterozygosity on chromosome 11q13 in two families with acromegaly/gigantism is independent of mutations of the multiple endocrine neoplasia type I gene. 57
9920092 1999
27
Genetic basis of endocrine disease: pituitary tumor pathogenesis. 57
9177361 1997
28
Circulating non-22-kilodalton growth hormone isoforms in acromegalic men before and after transsphenoidal surgery. 57
9141543 1997
29
Cardiac involvement in acromegaly: specific myocardiopathy or consequence of systemic hypertension? 57
9100571 1997
30
Familial prolactinoma. 57
7621566 1995
31
Growth hormone-, alpha-subunit and thyrotrophin-cosecreting pituitary adenoma in familial setting of pituitary tumour. 57
8109184 1993
32
Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations. 57
8514889 1993
33
Familial acromegaly: studies in three families. 57
2200621 1990
34
Familial acromegaly. 57
2773624 1989
35
Familial acromegaly with pituitary adenoma. Report of three affected siblings. 57
3950729 1986
36
Familial acromegaly. 57
6723082 1984
37
Hypersomatotropism and acanthosis nigricans in two brothers. 57
4843205 1974
38
Large-scale second-hit AIP deletion causing a pediatric growth hormone-secreting pituitary adenoma: Case report and review of literature. 61
32336638 2020
39
Surgery, Octreotide, Temozolomide, Bevacizumab, Radiotherapy, and Pegvisomant Treatment of an AIP Mutation‒Positive Child. 61
31125088 2019
40
AIP inactivation leads to pituitary tumorigenesis through defective Gαi-cAMP signaling. 61
24662816 2015
41
The AIP (aryl hydrocarbon receptor-interacting protein) gene and its relation to the pathogenesis of pituitary adenomas. 61
24366639 2014
42
Should aip gene screening be recommended in family members of FIPA patients with R16H variant? 61
22915287 2013
43
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
44
The molecular pathogenesis of corticotroph tumours. 61
22098190 2012
45
Overview of genetic testing in patients with pituitary adenomas. 61
22503805 2012
46
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
47
No evidence of RET germline mutations in familial pituitary adenoma. 61
20956458 2011
48
Concomitant deletions of tumor suppressor genes MEN1 and AIP are essential for the pathogenesis of the brown fat tumor hibernoma. 61
21078971 2010
49
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. 61
20685857 2010
50
Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression. 61
20709796 2010

Variations for Pituitary Adenoma 1, Multiple Types

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

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AIP NM_003977.4(AIP):c.279+2T>C SNV Pathogenic 1032170 GRCh37: 11:67254658-67254658
GRCh38: 11:67487187-67487187
2 AIP NM_003977.4(AIP):c.910C>T (p.Arg304Ter) SNV Pathogenic 4888 rs104894195 GRCh37: 11:67258381-67258381
GRCh38: 11:67490910-67490910
3 AIP NM_003977.4(AIP):c.811C>T (p.Arg271Trp) SNV Pathogenic 41210 rs267606579 GRCh37: 11:67258282-67258282
GRCh38: 11:67490811-67490811
4 AIP NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup) Duplication Pathogenic 41208 rs267606578 GRCh37: 11:67258273-67258274
GRCh38: 11:67490802-67490803
5 AIP NM_003977.4(AIP):c.721A>G (p.Lys241Glu) SNV Pathogenic 41200 rs267606573 GRCh37: 11:67257862-67257862
GRCh38: 11:67490391-67490391
6 AIP NM_003977.4(AIP):c.241C>T (p.Arg81Ter) SNV Pathogenic 41167 rs267606541 GRCh37: 11:67254618-67254618
GRCh38: 11:67487147-67487147
7 AIP NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) SNV Pathogenic 4892 rs121908356 GRCh37: 11:67258275-67258275
GRCh38: 11:67490804-67490804
8 AIP NM_003977.4(AIP):c.40C>T (p.Gln14Ter) SNV Pathogenic 4886 rs104894194 GRCh37: 11:67250669-67250669
GRCh38: 11:67483198-67483198
9 MEN1 NM_000244.3(MEN1):c.1846T>A (p.Ter616Arg) SNV Pathogenic 446502 rs1565635212 GRCh37: 11:64571808-64571808
GRCh38: 11:64804336-64804336
10 AIP NM_003977.4(AIP):c.40C>T (p.Gln14Ter) SNV Pathogenic 4886 rs104894194 GRCh37: 11:67250669-67250669
GRCh38: 11:67483198-67483198
11 AIP NM_003977.4(AIP):c.64C>T (p.Arg22Ter) SNV Pathogenic/Likely pathogenic 4894 rs121908357 GRCh37: 11:67250693-67250693
GRCh38: 11:67483222-67483222
12 AIP NM_003977.4(AIP):c.543del (p.Ile182fs) Deletion Pathogenic/Likely pathogenic 4891 rs267606559 GRCh37: 11:67257582-67257582
GRCh38: 11:67490111-67490111
13 AIP NM_003977.4(AIP):c.824dup (p.His275fs) Duplication Pathogenic/Likely pathogenic 4890 rs267606580 GRCh37: 11:67258294-67258295
GRCh38: 11:67490823-67490824
14 AIP NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) Deletion Pathogenic/Likely pathogenic 4889 rs267606567 GRCh37: 11:67250695-67250700
GRCh38: 11:67483224-67483229
15 AIP NM_003977.4(AIP):c.469-1G>A SNV Pathogenic/Likely pathogenic 4887 rs267606555 GRCh37: 11:67257508-67257508
GRCh38: 11:67490037-67490037
16 AIP NM_003977.2(AIP):c.-1212_279+578del Deletion Likely pathogenic 41158 GRCh37: 11:67249418-67255234
GRCh38: 11:67481947-67487763
17 AIP NM_003977.4(AIP):c.166C>A (p.Arg56Ser) SNV Likely pathogenic 41165 rs267606538 GRCh37: 11:67254543-67254543
GRCh38: 11:67487072-67487072
18 AIP NM_003977.4(AIP):c.715C>T (p.Gln239Ter) SNV Likely pathogenic 41199 rs267606571 GRCh37: 11:67257856-67257856
GRCh38: 11:67490385-67490385
19 AIP NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del) Deletion Likely pathogenic 41163 rs267606537 GRCh37: 11:67254515-67254538
GRCh38: 11:67487044-67487067
20 AIP NM_003977.4(AIP):c.100-1025_279+357del Deletion Likely pathogenic 41161 GRCh37: 11:67253423-67254984
GRCh38: 11:67485952-67487513
21 AIP NM_003977.2(AIP):c.(?_1)_(*_?)del Deletion Likely pathogenic 41160 GRCh37:
GRCh38:
22 AIP NM_003977.4(AIP):c.919dup (p.Arg307fs) Duplication Likely pathogenic 41215 rs267606589 GRCh37: 11:67258389-67258390
GRCh38: 11:67490918-67490919
23 AIP NM_003977.4(AIP):c.854_857del (p.Gln285fs) Deletion Likely pathogenic 41213 rs267606582 GRCh37: 11:67258324-67258327
GRCh38: 11:67490853-67490856
24 AIP NM_003977.4(AIP):c.829G>C (p.Ala277Pro) SNV Likely pathogenic 41212 rs267606581 GRCh37: 11:67258300-67258300
GRCh38: 11:67490829-67490829
25 AIP NM_003977.3(AIP):c.74_81delTCCCGGACins7 Indel Likely pathogenic 41203 GRCh37: 11:67250703-67250710
GRCh38: 11:67483232-67483239
26 AIP NM_003977.4(AIP):c.739_741TAC[1] (p.Tyr248del) Microsatellite Likely pathogenic 41202 rs267606574 GRCh37: 11:67257880-67257882
GRCh38: 11:67490409-67490411
27 AIP NM_003977.4(AIP):c.721A>T (p.Lys241Ter) SNV Likely pathogenic 41201 rs267606573 GRCh37: 11:67257862-67257862
GRCh38: 11:67490391-67490391
28 AIP NM_003977.4(AIP):c.469-2A>G SNV Likely pathogenic 41183 rs267606556 GRCh37: 11:67257507-67257507
GRCh38: 11:67490036-67490036
29 AIP NM_003977.4(AIP):c.468+1G>A SNV Likely pathogenic 41182 rs267606554 GRCh37: 11:67256927-67256927
GRCh38: 11:67489456-67489456
30 AIP NM_003977.4(AIP):c.424C>T (p.Gln142Ter) SNV Likely pathogenic 41179 rs267606552 GRCh37: 11:67256882-67256882
GRCh38: 11:67489411-67489411
31 AIP NM_003977.4(AIP):c.404del (p.His135fs) Deletion Likely pathogenic 41178 rs267606551 GRCh37: 11:67256862-67256862
GRCh38: 11:67489391-67489391
32 AIP NM_003977.4(AIP):c.3_4insC (p.Ala2fs) Insertion Likely pathogenic 41177 rs267606547 GRCh37: 11:67250632-67250633
GRCh38: 11:67483161-67483162
33 AIP NM_003977.4(AIP):c.350del (p.Gly117fs) Deletion Likely pathogenic 41175 rs267606549 GRCh37: 11:67256806-67256806
GRCh38: 11:67489335-67489335
34 AIP NM_003977.4(AIP):c.308A>G (p.Lys103Arg) SNV Likely pathogenic 41174 rs267606548 GRCh37: 11:67256766-67256766
GRCh38: 11:67489295-67489295
35 AIP NM_003977.4(AIP):c.2T>C (p.Met1Thr) SNV Likely pathogenic 41173 rs267606546 GRCh37: 11:67250631-67250631
GRCh38: 11:67483160-67483160
36 AIP NM_003977.4(AIP):c.286_287del (p.Val96fs) Deletion Likely pathogenic 41172 rs267606545 GRCh37: 11:67256744-67256745
GRCh38: 11:67489273-67489274
37 AIP NM_003977.4(AIP):c.280-1G>A SNV Likely pathogenic 41171 rs267606544 GRCh37: 11:67256737-67256737
GRCh38: 11:67489266-67489266
38 AIP NM_003977.4(AIP):c.250G>A (p.Glu84Lys) SNV Likely pathogenic 41170 rs267606543 GRCh37: 11:67254627-67254627
GRCh38: 11:67487156-67487156
39 AIP NM_003977.4(AIP):c.245_249del (p.Glu82fs) Deletion Likely pathogenic 41168 rs267606542 GRCh37: 11:67254621-67254625
GRCh38: 11:67487150-67487154
40 AIP NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) SNV Likely pathogenic 4892 rs121908356 GRCh37: 11:67258275-67258275
GRCh38: 11:67490804-67490804
41 MEN1 NM_001370259.2(MEN1):c.*470A>G SNV Likely pathogenic 305302 rs778272737 GRCh37: 11:64571336-64571336
GRCh38: 11:64803864-64803864
42 AIP NM_003977.4(AIP):c.878_879delinsGT (p.Glu293Gly) Indel Likely pathogenic 242673 rs267606583 GRCh37: 11:67258349-67258350
GRCh38: 11:67490878-67490879
43 AIP NM_003977.4(AIP):c.713G>A (p.Cys238Tyr) SNV Likely pathogenic 41197 rs267606569 GRCh37: 11:67257854-67257854
GRCh38: 11:67490383-67490383
44 AIP NM_003977.4(AIP):c.70G>T (p.Glu24Ter) SNV Likely pathogenic 41196 rs267606568 GRCh37: 11:67250699-67250699
GRCh38: 11:67483228-67483228
45 AIP NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer) Duplication Likely pathogenic 41195 rs104895075 GRCh37: 11:67257799-67257800
GRCh38: 11:67490328-67490329
46 AIP NM_003977.4(AIP):c.649C>T (p.Gln217Ter) SNV Likely pathogenic 41194 rs267606566 GRCh37: 11:67257790-67257790
GRCh38: 11:67490319-67490319
47 AIP NM_003977.4(AIP):c.646G>T (p.Glu216Ter) SNV Likely pathogenic 41193 rs267606565 GRCh37: 11:67257787-67257787
GRCh38: 11:67490316-67490316
48 AIP NM_003977.4(AIP):c.601A>T (p.Lys201Ter) SNV Likely pathogenic 41191 rs267606563 GRCh37: 11:67257641-67257641
GRCh38: 11:67490170-67490170
49 AIP NM_003977.4(AIP):c.550C>T (p.Gln184Ter) SNV Likely pathogenic 41188 rs267606560 GRCh37: 11:67257590-67257590
GRCh38: 11:67490119-67490119
50 AIP NM_003977.4(AIP):c.521_525del (p.Glu174fs) Deletion Likely pathogenic 41187 rs267606558 GRCh37: 11:67257557-67257561
GRCh38: 11:67490086-67490090

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

72
# 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 186)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM86624499 RB1 pituitary,NS,adenoma,ACTH-FSH-GH-LH-PRL c.1861C>A p.R621S 13:48456250-48456250 45
2 COSM87132318 PIK3CA pituitary,NS,adenoma,PRL c.3073A>G p.T1025A 3:179234230-179234230 45
3 COSM148932735 PIK3CA pituitary,NS,adenoma,PRL c.*153A>G p.? 3:179234230-179234230 45
4 COSM148932717 PIK3CA pituitary,NS,adenoma,PRL c.1624G>A p.E542K 3:179218294-179218294 45
5 COSM87132301 PIK3CA pituitary,NS,adenoma,PRL c.1624G>A p.E542K 3:179218294-179218294 45
6 COSM100244198 MEN1 pituitary,NS,adenoma,TSH c.945-2A>G p.? 11:64805772-64805772 45
7 COSM99563837 MEN1 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 45
8 COSM90429831 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 45
9 COSM99575811 MEN1 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 45
10 COSM100173638 MEN1 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 45
11 COSM92072553 MEN1 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 45
12 COSM92200375 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 45
13 COSM100204187 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 45
14 COSM100255374 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 45
15 COSM101967380 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 45
16 COSM91331304 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 45
17 COSM101951743 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 45
18 COSM105721542 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 45
19 COSM112988917 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 45
20 COSM112988978 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 45
21 COSM91331236 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 45
22 COSM105721467 HRAS pituitary,NS,adenoma,PRL c.35G>T p.G12V 11:534288-534288 45
23 COSM101967337 HRAS pituitary,NS,adenoma,PRL c.35G>T p.G12V 11:534288-534288 45
24 COSM101951679 HRAS pituitary,NS,adenoma,PRL c.35G>T p.G12V 11:534288-534288 45
25 COSM85346108 GNAS pituitary,NS,adenoma,GH c.556C>A p.R186S 20:58909365-58909365 45
26 COSM93779884 GNAS pituitary,NS,adenoma,GH c.2488C>A p.R830S 20:58909365-58909365 45
27 COSM93630552 GNAS pituitary,NS,adenoma,GH c.*507C>A p.? 20:58909365-58909365 45
28 COSM93761140 GNAS pituitary,NS,adenoma,GH c.2530C>A p.R844S 20:58909365-58909365 45
29 COSM89475256 GNAS pituitary,NS,adenoma,GH c.*583A>T p.? 20:58909541-58909541 45
30 COSM89475620 GNAS pituitary,NS,adenoma,GH c.*583A>G p.? 20:58909541-58909541 45
31 COSM93702535 GNAS pituitary,NS,adenoma,GH c.680A>G p.Q227R 20:58909541-58909541 45
32 COSM93087211 GNAS pituitary,NS,adenoma,GH c.683A>G p.Q228R 20:58909541-58909541 45
33 COSM93630284 GNAS pituitary,NS,adenoma,GH c.*508G>A p.? 20:58909366-58909366 45
34 COSM93631069 GNAS pituitary,NS,adenoma,GH c.*586A>G p.? 20:58909541-58909541 45
35 COSM93086861 GNAS pituitary,NS,adenoma,GH c.604C>A p.R202S 20:58909365-58909365 45
36 COSM87643227 GNAS pituitary,NS,adenoma,GH c.94-226A>T p.? 20:58909541-58909541 45
37 COSM87643479 GNAS pituitary,NS,adenoma,GH c.94-226A>G p.? 20:58909541-58909541 45
38 COSM89474878 GNAS pituitary,NS,adenoma,GH c.*505G>A p.? 20:58909366-58909366 45
39 COSM93726964 GNAS pituitary,NS,adenoma,GH c.638A>G p.Q213R 20:58909541-58909541 45
40 COSM89475152 GNAS pituitary,NS,adenoma,GH c.*504C>A p.? 20:58909365-58909365 45
41 COSM93701978 GNAS pituitary,NS,adenoma,GH c.602G>A p.R201H 20:58909366-58909366 45
42 COSM93760887 GNAS pituitary,NS,adenoma,GH c.2531G>A p.R844H 20:58909366-58909366 45
43 COSM85346567 GNAS pituitary,NS,adenoma,GH c.635A>G p.Q212R 20:58909541-58909541 45
44 COSM93761837 GNAS pituitary,NS,adenoma,GH c.2609A>G p.Q870R 20:58909541-58909541 45
45 COSM93086649 GNAS pituitary,NS,adenoma,GH c.605G>A p.R202H 20:58909366-58909366 45
46 COSM93702186 GNAS pituitary,NS,adenoma,GH c.601C>A p.R201S 20:58909365-58909365 45
47 COSM87643126 GNAS pituitary,NS,adenoma,GH c.94-402C>A p.? 20:58909365-58909365 45
48 COSM93630681 GNAS pituitary,NS,adenoma,GH c.*586A>T p.? 20:58909541-58909541 45
49 COSM93761460 GNAS pituitary,NS,adenoma,GH c.2609A>T p.Q870L 20:58909541-58909541 45
50 COSM93780281 GNAS pituitary,NS,adenoma,GH c.2567A>G p.Q856R 20:58909541-58909541 45

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

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

# Super pathways Score Top Affiliating Genes
1 11.62 MEN1 IGFBP3 IGF1
2
Show member pathways
11.52 SST IGFBP3 IGF1 GH1
3 10.28 IGFBP3 IGF1

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 endosome lumen GO:0031904 9.16 PRL GH1
2 insulin-like growth factor ternary complex GO:0042567 8.96 IGFBP3 IGF1
3 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 regulation of multicellular organism growth GO:0040014 9.26 PRL IGF1
2 cellular protein metabolic process GO:0044267 9.26 PRL MEN1 IGFBP3 IGF1
3 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.16 PRL GH1
4 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
7 CNVD
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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
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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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