MCID: PTT050
MIFTS: 48

Pituitary Adenoma, Growth Hormone-Secreting

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

Aliases & Classifications for Pituitary Adenoma, Growth Hormone-Secreting

MalaCards integrated aliases for Pituitary Adenoma, Growth Hormone-Secreting:

Name: Pituitary Adenoma, Growth Hormone-Secreting 54
Growth Hormone Secreting Pituitary Adenoma 12 14
Growth Hormone-Secreting Pituitary Adenoma 42 69
Somatotroph Adenoma 12 29
Growth Hormone Producing Adenoma of the Pituitary 12
Pituitary Adenoma, Growth Hormone-Secreting, 1 71
Growth Hormone Secreting Adenoma of Pituitary 12
Infantile and Juvenile Forms of Acromegaly 56
Acromegaly Due to Pituitary Adenoma 1 71
Pituitary Adenoma, Familial Isolated 69
Familial Isolated Pituitary Adenoma 71
Acromegaly Due to Pituitary Adenoma 71
Multiple Gastrointestinal Atresias 69
Familial Isolated Somatotropinomas 71
Isolated Familial Somatotropinoma 71
Pituitary Adenoma Predisposition 69
Somatotrophinoma, Familial 69
Familial Somatotrophinoma 71
Hypophyseal Gigantism 56
Acromegaly, Somatic 54
Pituitary Gigantism 56
Gigantism Pituitary 52
Gigantism 69
Pagh1 71
Fipa 71
Fis 71
Ifs 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
onset in second or third decades


HPO:

32
pituitary adenoma, growth hormone-secreting:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


Summaries for Pituitary Adenoma, Growth Hormone-Secreting

OMIM : 54
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, Growth Hormone-Secreting, also known as growth hormone secreting pituitary adenoma, is related to pituitary adenoma, acth-secreting and usher syndrome, type 1f, and has symptoms including coarse facial features, frontal bossing and hypertrophic cardiomyopathy. An important gene associated with Pituitary Adenoma, Growth Hormone-Secreting is AIP (Aryl Hydrocarbon Receptor Interacting Protein), and among its related pathways/superpathways are PI3K-Akt signaling pathway and G-protein signaling_RhoA regulation pathway. The drugs Octreotide and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary and thyroid.

UniProtKB/Swiss-Prot : 71 Pituitary adenoma, growth hormone-secreting, 1: A growth hormone-secreting, benign neoplasm of the anterior pituitary gland, also known as somatotropinoma. It clinically results in acromegaly, a condition characterized by coarse facial features, protruding jaw, and enlarged extremities. Excessive production of growth hormone in children or adolescents before the closure of epiphyses causes gigantism, a condition characterized by abnormally tall stature.

Related Diseases for Pituitary Adenoma, Growth Hormone-Secreting

Diseases in the Pituitary Adenoma, Growth Hormone-Secreting family:

Pituitary Adenoma, Growth Hormone-Secreting 2

Diseases related to Pituitary Adenoma, Growth Hormone-Secreting via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 164)
id Related Disease Score Top Affiliating Genes
1 pituitary adenoma, acth-secreting 28.7 AIP CDH23 GH1 GNAS IGF1 PRL
2 usher syndrome, type 1f 28.1 AIP CDH23 GH1 GNAS GPR101 IGF1
3 pituitary adenoma, prolactin-secreting 27.2 AIP CDH23 GH1 GNAS GPR101 IGF1
4 pituitary adenoma, growth hormone-secreting 2 12.6
5 familial isolated pituitary adenoma 12.5
6 aip-related familial isolated pituitary adenomas 12.3
7 congenital disorder of glycosylation, type if 12.1
8 neuropathy, hereditary sensory, type if 12.1
9 amelogenesis imperfecta, type if 12.1
10 acromegaly 11.3
11 fecal incontinence 11.3
12 chromosome xq26.3 duplication syndrome 11.0
13 vaginitis 10.9
14 mccune-albright syndrome, somatic, mosaic 10.9
15 tuberculosis 10.9
16 hepatitis b 10.8
17 syphilis 10.8
18 lyme disease 10.8
19 headache 10.8
20 constipation 10.8
21 endocarditis 10.8
22 malaria 10.8
23 fainting 10.8
24 aneurysm 10.8
25 sinusitis 10.8
26 aortic aneurysm 10.8
27 pneumonia 10.7
28 biotinidase deficiency 10.7
29 pulmonary embolism 10.7
30 rickets 10.7
31 lymphoma 10.7
32 kidney disease 10.7
33 rectal prolapse 10.7
34 h. pylori infection 10.7
35 bipolar disorder 10.7
36 sickle cell anemia 10.7
37 hellp syndrome 10.7
38 head injury 10.7
39 multiple myeloma 10.7
40 osteochondritis dissecans 10.7
41 coccidioidomycosis 10.7
42 thalassemia 10.7
43 thyroid cancer 10.7
44 prostate cancer 10.7
45 bursitis 10.7
46 meningitis 10.7
47 lactose intolerance 10.7
48 thoracic outlet syndrome 10.7
49 attention deficit-hyperactivity disorder 10.7
50 diarrhea 10.6

Graphical network of the top 20 diseases related to Pituitary Adenoma, Growth Hormone-Secreting:



Diseases related to Pituitary Adenoma, Growth Hormone-Secreting

Symptoms & Phenotypes for Pituitary Adenoma, Growth Hormone-Secreting

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
coarse facial features
mandibular enlargement

Cardiovascular- Vascular:
hypertension

Growth- Height:
increased height

Chest- Breasts:
galactorrhea from increased serum prolactin

Skeletal- Feet:
enlarged feet

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

Cardiovascular- Heart:
left ventricular hypertrophy
cardiomyopathy

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

Neoplasia:
pituitary adenoma
prolactinoma
somatotrophinoma

Skeletal- Hands:
enlarged hands

Neurologic- Central Nervous System:
anterior pituitary adenoma


Clinical features from OMIM:

102200

Human phenotypes related to Pituitary Adenoma, Growth Hormone-Secreting:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
2 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 hypertrophic cardiomyopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001639
4 left ventricular hypertrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001712
5 amenorrhea 56 32 frequent (33%) Frequent (79-30%) HP:0000141
6 premature pubarche 56 32 hallmark (90%) Very frequent (99-80%) HP:0012411
7 hyperhidrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000975
8 large hands 56 32 hallmark (90%) Very frequent (99-80%) HP:0001176
9 type ii diabetes mellitus 56 32 hallmark (90%) Very frequent (99-80%) HP:0005978
10 galactorrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0100829
11 mandibular prognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000303
12 growth hormone excess 56 32 hallmark (90%) Very frequent (99-80%) HP:0000845
13 pituitary prolactin cell adenoma 56 32 frequent (33%) Frequent (79-30%) HP:0006767
14 pituitary growth hormone cell adenoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0011760
15 accelerated skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0005616
16 prolactin excess 56 32 frequent (33%) Frequent (79-30%) HP:0000870
17 long foot 56 32 hallmark (90%) Very frequent (99-80%) HP:0001833
18 proportionate tall stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0011407
19 cardiomyopathy 32 HP:0001638
20 hypertension 32 HP:0000822
21 tall stature 56 Very frequent (99-80%)
22 menstrual irregularities 32 HP:0000858
23 pituitary adenoma 32 HP:0002893
24 increased serum insulin-like growth factor 1 56 Very frequent (99-80%)
25 increased serum insulin-like growth factor 1 {comment="hpo 32 hallmark (90%) HP:0030269

UMLS symptoms related to Pituitary Adenoma, Growth Hormone-Secreting:


endocrine system signs and symptoms

Drugs & Therapeutics for Pituitary Adenoma, Growth Hormone-Secreting

Drugs for Pituitary Adenoma, Growth Hormone-Secreting (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Octreotide Approved, Investigational Phase 4,Phase 2 83150-76-9 383414 6400441
2 Hormones Phase 4,Phase 2
3 Antineoplastic Agents, Hormonal Phase 4
4 Gastrointestinal Agents Phase 4
5 Hormone Antagonists
6 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Preoperative Octreotide Treatment of Acromegaly Completed NCT00521300 Phase 4 Octreotide
2 An Extension Study to Assess the Long-term Safety and Efficacy of Pasireotide in Patients With Acromegaly Completed NCT00171730 Phase 2 Pasireotide
3 Temozolomide in Treating Patients With Invasive Pituitary Tumors Withdrawn NCT00601289 Phase 2 temozolomide
4 Glycemic Fluctuations in Newly Diagnosed Growth Hormone-Secreting Pituitary Adenoma and Cushing Syndrome Subjects Unknown status NCT02574793
5 Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly Unknown status NCT01902420
6 Interdisciplinary Pituitary Disorders Centre of Excellence: Assessment of Patient Education Tools Unknown status NCT01775332
7 A Pilot Study of Rosiglitazone in the Treatment of GH Secreting Pituitary Adenomas Recruiting NCT03309319 Rosiglitazone
8 Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA Recruiting NCT00461188

Search NIH Clinical Center for Pituitary Adenoma, Growth Hormone-Secreting

Cochrane evidence based reviews: growth hormone-secreting pituitary adenoma

Genetic Tests for Pituitary Adenoma, Growth Hormone-Secreting

Genetic tests related to Pituitary Adenoma, Growth Hormone-Secreting:

id Genetic test Affiliating Genes
1 Somatotroph Adenoma 29

Anatomical Context for Pituitary Adenoma, Growth Hormone-Secreting

MalaCards organs/tissues related to Pituitary Adenoma, Growth Hormone-Secreting:

39
Pituitary, Thyroid

Publications for Pituitary Adenoma, Growth Hormone-Secreting

Variations for Pituitary Adenoma, Growth Hormone-Secreting

ClinVar genetic disease variations for Pituitary Adenoma, Growth Hormone-Secreting:

6 (show top 50) (show all 56)
id 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.469-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs267606555 GRCh37 Chromosome 11, 67257508: 67257508
3 AIP NM_003977.3(AIP): c.910C> T (p.Arg304Ter) single nucleotide variant Pathogenic rs104894195 GRCh37 Chromosome 11, 67258381: 67258381
4 AIP NM_003977.3(AIP): c.66_71delAGGAGA (p.Gly23_Glu24del) deletion Pathogenic/Likely pathogenic rs267606567 GRCh37 Chromosome 11, 67250695: 67250700
5 AIP NM_003977.3(AIP): c.824dupA (p.His275Glnfs) duplication Pathogenic/Likely pathogenic rs267606580 GRCh37 Chromosome 11, 67258295: 67258295
6 AIP NM_003977.3(AIP): c.542delT (p.Ile182Serfs) deletion Pathogenic/Likely pathogenic rs267606559 GRCh37 Chromosome 11, 67257582: 67257582
7 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh37 Chromosome 11, 67258275: 67258275
8 AIP NM_003977.3(AIP): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908357 GRCh37 Chromosome 11, 67250693: 67250693
9 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
10 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
11 GNAS NM_000516.5(GNAS): c.680A> G (p.Gln227Arg) single nucleotide variant Pathogenic rs121913494 GRCh37 Chromosome 20, 57484596: 57484596
12 GNAS NM_000516.5(GNAS): c.601C> A (p.Arg201Ser) single nucleotide variant Pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
13 AIP NM_003977.2(AIP): c.-1212_279+578del deletion Likely pathogenic GRCh37 Chromosome 11, 67249418: 67255234
14 AIP NM_003977.2(AIP): c.(?_1)_(*_?)del deletion Likely pathogenic
15 AIP NM_003977.3(AIP): c.100-1025_279+357del1562 deletion Likely pathogenic GRCh37 Chromosome 11, 67253452: 67255013
16 AIP NM_003977.3(AIP): c.138_161del24 (p.Gly47_Arg54del) deletion Likely pathogenic rs267606537 GRCh37 Chromosome 11, 67254515: 67254538
17 AIP NM_003977.3(AIP): c.166C> A (p.Arg56Ser) single nucleotide variant Likely pathogenic rs267606538 GRCh37 Chromosome 11, 67254543: 67254543
18 AIP NM_003977.3(AIP): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs267606541 GRCh37 Chromosome 11, 67254618: 67254618
19 AIP NM_003977.3(AIP): c.244_248delGAAGG (p.Glu82Glyfs) deletion Likely pathogenic rs267606542 GRCh37 Chromosome 11, 67254621: 67254625
20 AIP NM_003977.3(AIP): c.249G> T (p.Gly83=) single nucleotide variant Likely pathogenic rs104895072 GRCh37 Chromosome 11, 67254626: 67254626
21 AIP NM_003977.3(AIP): c.250G> A (p.Glu84Lys) single nucleotide variant Likely pathogenic rs267606543 GRCh37 Chromosome 11, 67254627: 67254627
22 AIP NM_003977.3(AIP): c.280-1G> A single nucleotide variant Likely pathogenic rs267606544 GRCh37 Chromosome 11, 67256737: 67256737
23 AIP NM_003977.3(AIP): c.286_287delGT (p.Val96Profs) deletion Likely pathogenic rs267606545 GRCh37 Chromosome 11, 67256744: 67256745
24 AIP NM_003977.3(AIP): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs267606546 GRCh37 Chromosome 11, 67250631: 67250631
25 AIP NM_003977.3(AIP): c.308A> G (p.Lys103Arg) single nucleotide variant Likely pathogenic rs267606548 GRCh37 Chromosome 11, 67256766: 67256766
26 AIP NM_003977.3(AIP): c.350delG (p.Gly117Alafs) deletion Likely pathogenic rs267606549 GRCh37 Chromosome 11, 67256808: 67256808
27 AIP NM_003977.3(AIP): c.3_4insC (p.Ala2Argfs) insertion Likely pathogenic rs267606547 GRCh37 Chromosome 11, 67250632: 67250633
28 AIP NM_003977.3(AIP): c.404delA (p.His135Leufs) deletion Likely pathogenic rs267606551 GRCh37 Chromosome 11, 67256862: 67256862
29 AIP NM_003977.3(AIP): c.424C> T (p.Gln142Ter) single nucleotide variant Likely pathogenic rs267606552 GRCh37 Chromosome 11, 67256882: 67256882
30 AIP NM_003977.3(AIP): c.468+1G> A single nucleotide variant Likely pathogenic rs267606554 GRCh37 Chromosome 11, 67256927: 67256927
31 AIP NM_003977.3(AIP): c.469-2A> G single nucleotide variant Likely pathogenic rs267606556 GRCh37 Chromosome 11, 67257507: 67257507
32 AIP NM_003977.3(AIP): c.490C> T (p.Gln164Ter) single nucleotide variant Likely pathogenic rs104895073 GRCh37 Chromosome 11, 67257530: 67257530
33 AIP NM_003977.3(AIP): c.500delC (p.Pro167Hisfs) deletion Likely pathogenic rs267606557 GRCh37 Chromosome 11, 67257540: 67257540
34 AIP NM_003977.3(AIP): c.517_521delGAAGA (p.Glu174Glyfs) deletion Likely pathogenic rs267606558 GRCh37 Chromosome 11, 67257557: 67257561
35 AIP NM_003977.3(AIP): c.550C> T (p.Gln184Ter) single nucleotide variant Likely pathogenic rs267606560 GRCh37 Chromosome 11, 67257590: 67257590
36 AIP NM_003977.3(AIP): c.584T> C (p.Val195Ala) single nucleotide variant Likely pathogenic rs267606561 GRCh37 Chromosome 11, 67257624: 67257624
37 AIP NM_003977.3(AIP): c.591G> A (p.Glu197=) single nucleotide variant Likely pathogenic rs202006716 GRCh37 Chromosome 11, 67257631: 67257631
38 AIP NM_003977.3(AIP): c.601A> T (p.Lys201Ter) single nucleotide variant Likely pathogenic rs267606563 GRCh37 Chromosome 11, 67257641: 67257641
39 AIP NM_003977.3(AIP): c.646G> T (p.Glu216Ter) single nucleotide variant Likely pathogenic rs267606565 GRCh37 Chromosome 11, 67257787: 67257787
40 AIP NM_003977.3(AIP): c.649C> T (p.Gln217Ter) single nucleotide variant Likely pathogenic rs267606566 GRCh37 Chromosome 11, 67257790: 67257790
41 AIP NM_003977.3(AIP): c.662dupC (p.Glu222Terfs) duplication Likely pathogenic rs104895075 GRCh37 Chromosome 11, 67257803: 67257803
42 AIP NM_003977.3(AIP): c.70G> T (p.Glu24Ter) single nucleotide variant Likely pathogenic rs267606568 GRCh37 Chromosome 11, 67250699: 67250699
43 AIP NM_003977.3(AIP): c.713G> A (p.Cys238Tyr) single nucleotide variant Likely pathogenic rs267606569 GRCh37 Chromosome 11, 67257854: 67257854
44 AIP NM_003977.3(AIP): c.715C> T (p.Gln239Ter) single nucleotide variant Likely pathogenic rs267606571 GRCh37 Chromosome 11, 67257856: 67257856
45 AIP NM_003977.3(AIP): c.721A> G (p.Lys241Glu) single nucleotide variant Pathogenic rs267606573 GRCh37 Chromosome 11, 67257862: 67257862
46 AIP NM_003977.3(AIP): c.721A> T (p.Lys241Ter) single nucleotide variant Likely pathogenic rs267606573 GRCh37 Chromosome 11, 67257862: 67257862
47 AIP NM_003977.3(AIP): c.742_744delTAC (p.Tyr248del) deletion Likely pathogenic rs267606574 GRCh37 Chromosome 11, 67257883: 67257885
48 AIP NM_003977.3(AIP): c.74_81delTCCCGGACins7 indel Likely pathogenic rs104895074 GRCh37 Chromosome 11, 67250703: 67250710
49 AIP NM_003977.3(AIP): c.769A> G (p.Ile257Val) single nucleotide variant Likely pathogenic rs267606575 GRCh37 Chromosome 11, 67257910: 67257910
50 AIP NM_003977.3(AIP): c.803A> G (p.Tyr268Cys) single nucleotide variant Likely pathogenic rs267606577 GRCh37 Chromosome 11, 67258274: 67258274

Cosmic variations for Pituitary Adenoma, Growth Hormone-Secreting:

9
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM771 PIK3CA pituitary,NS,adenoma,PRL c.3073A>G p.T1025A 28
2 COSM760 PIK3CA pituitary,NS,adenoma,PRL c.1624G>A p.E542K 28
3 COSM22623 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 28
4 COSM483 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 28
5 COSM482 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 28
6 COSM27887 GNAS pituitary,NS,adenoma,GH c.601C>T p.R201C 28
7 COSM27896 GNAS pituitary,NS,adenoma,GH c.680A>G p.Q227R 28
8 COSM27888 GNAS pituitary,NS,adenoma,GH c.680A>T p.Q227L 28
9 COSM27895 GNAS pituitary,NS,adenoma,GH c.602G>A p.R201H 28
10 COSM27899 GNAS pituitary,NS,adenoma,GH c.601C>A p.R201S 28

Expression for Pituitary Adenoma, Growth Hormone-Secreting

Search GEO for disease gene expression data for Pituitary Adenoma, Growth Hormone-Secreting.

Pathways for Pituitary Adenoma, Growth Hormone-Secreting

Pathways related to Pituitary Adenoma, Growth Hormone-Secreting according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.79 GH1 GNAS IGF1 PRL
2 11.19 GH1 GNAS IGF1
3 10.96 GNAS IGF1
4
Show member pathways
10.77 GH1 PRL
5 9.95 IGF1 IGFBP3

GO Terms for Pituitary Adenoma, Growth Hormone-Secreting

Cellular components related to Pituitary Adenoma, Growth Hormone-Secreting according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 GH1 GNAS IGF1 IGFBP3 PRL SST
2 endosome lumen GO:0031904 9.16 GH1 PRL
3 insulin-like growth factor ternary complex GO:0042567 8.96 IGF1 IGFBP3
4 insulin-like growth factor binding protein complex GO:0016942 8.62 IGF1 IGFBP3

Biological processes related to Pituitary Adenoma, Growth Hormone-Secreting according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.54 IGF1 IGFBP3 PRL
2 response to heat GO:0009408 9.4 IGF1 SST
3 regulation of multicellular organism growth GO:0040014 9.32 IGF1 PRL
4 positive regulation of JAK-STAT cascade GO:0046427 9.26 GH1 PRL
5 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.16 GNAS GPR101
6 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 8.96 GH1 PRL
7 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.8 GH1 IGF1 IGFBP3

Molecular functions related to Pituitary Adenoma, Growth Hormone-Secreting according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor receptor binding GO:0005159 9.16 GNAS IGF1
2 prolactin receptor binding GO:0005148 8.96 GH1 PRL
3 hormone activity GO:0005179 8.92 GH1 IGF1 PRL SST

Sources for Pituitary Adenoma, Growth Hormone-Secreting

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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