MCID: PTT050
MIFTS: 49

Pituitary Adenoma, Growth Hormone-Secreting malady

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

Aliases & Classifications for Pituitary Adenoma, Growth Hormone-Secreting

About this section
Sources:
50OMIM, 68UniProtKB/Swiss-Prot, 11Disease Ontology, 13DISEASES, 25GTR, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pituitary Adenoma, Growth Hormone-Secreting:

Name: Pituitary Adenoma, Growth Hormone-Secreting 50
Pituitary Adenoma, Growth Hormone-Secreting, 1 50 68
Growth Hormone Secreting Pituitary Adenoma 11 13
Growth Hormone-Secreting Pituitary Adenoma 37 66
Somatotroph Adenoma 11 25
Growth Hormone Producing Adenoma of the Pituitary 11
Growth Hormone Secreting Adenoma of Pituitary 11
Infantile and Juvenile Forms of Acromegaly 52
Acromegaly Due to Pituitary Adenoma 1 68
Acromegaly Due to Pituitary Adenoma 68
Familial Isolated Pituitary Adenoma 68
 
Familial Isolated Somatotropinomas 68
Isolated Familial Somatotropinoma 68
Familial Somatotrophinoma 68
Hypophyseal Gigantism 52
Acromegaly, Somatic 50
Gigantism Pituitary 48
Pituitary Gigantism 52
Pagh1 68
Fipa 68
Ifs 68
Fis 68

Characteristics:

HPO:

62
pituitary adenoma, growth hormone-secreting:
Inheritance: autosomal dominant inheritance, somatic mutation


Classifications:



External Ids:

OMIM50 102200
Disease Ontology11 DOID:6255
NCIt43 C7461
Orphanet52 ORPHA99725
SNOMED-CT60 254957009
ICD10 via Orphanet29 E22.0
MESH via Orphanet38 D005877
UMLS via Orphanet67 C0017547

Summaries for Pituitary Adenoma, Growth Hormone-Secreting

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OMIM:50 Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of... (102200) more...

MalaCards based summary: Pituitary Adenoma, Growth Hormone-Secreting, also known as pituitary adenoma, growth hormone-secreting, 1, is related to pituitary adenoma, growth hormone-secreting 2 and familial isolated pituitary adenoma, and has symptoms including Array, Array and Array. An important gene associated with Pituitary Adenoma, Growth Hormone-Secreting is AIP (Aryl Hydrocarbon Receptor Interacting Protein), and among its related pathways are Salivary secretion and G alpha (s) signalling events. Affiliated tissues include pituitary and t cells, and related mouse phenotypes are integument and neoplasm.

UniProtKB/Swiss-Prot:68 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

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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 113)
idRelated DiseaseScoreTop Affiliating Genes
1pituitary adenoma, growth hormone-secreting 212.6
2familial isolated pituitary adenoma12.5
3aip-related familial isolated pituitary adenomas12.4
4congenital disorder of glycosylation, type if12.2
5amelogenesis imperfecta, type if12.1
6neuropathy, hereditary sensory, type if12.1
7acromegaly11.7
8usher syndrome, type 1f11.1
9pituitary adenoma10.9
10adenoma10.9
11als2-related disorders10.7AIP, GNAS
12fecal incontinence10.7
13prolactinoma10.7IGF1, SST
14prostate cancer10.7
15renal pelvis adenocarcinoma10.6GHRH, SST
16fibroma10.5GNAS, SST
17fumarate hydratase deficiency10.5GNAS, PRL
18spinal chordoma10.4GAST, SST
19extragonadal germ cell cancer10.4GAST, SST
20kartagener syndrome10.4GHRH, IGF1, SST
21primary biliary cholangitis10.4GNAS, IGF1
22carcinoma of the vocal tract10.4GHRH, IGF1, SST
23patellofemoral pain syndrome10.4GHRH, IGF1, SST
24deep corneal vascularisation10.4GAST, SST
25retinal microaneurysm10.4AIP, PRL
26pelvic varices10.4GAST, SST
27lipid-rich carcinoma10.4PRL, SST
28bardet-biedl syndrome10.4GHRH, PRL
29isolated levocardia10.4GAST, SST
30ehlers-danlos syndrome, type viii10.4AIP, PRL
31strabismus10.4PRL, SST
32ring staphyloma10.4GHSR, SST
33diabetes mellitus, transient neonatal, 310.3GAST, SST
34fibrosclerosis of breast10.3IGF1, PRL
35pancreatic cystadenocarcinoma10.3GAST, SST
36tuberculosis10.3
37fainting10.3
38primary progressive multiple sclerosis10.3GAST, SST
39acanthoma10.3GAST, SST
40lymphoma10.3
41adrenal medulla cancer10.3AIP, GNAS, IGF1, SST
42mobitz type ii atrioventricular block10.3AIP, PRL, SST
43immune system organ benign neoplasm10.3IGF1, PRL
44lipoadenoma10.2AIP, PRL, SST
45hepatitis10.2
46acute myocarditis10.2GNAS, PRL, SST
47hereditary koilonychia10.2BTK, GHRH, GHRHR
48gastrointestinal anthrax10.2GAST, SST
49endotheliitis10.2
50arthritis10.2

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



Diseases related to pituitary adenoma, growth hormone-secreting

Symptoms for Pituitary Adenoma, Growth Hormone-Secreting

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Symptoms by clinical synopsis from OMIM:

102200

Clinical features from OMIM:

102200

Symptoms:

 52 (show all 20)
  • tall stature
  • amenorrhea
  • coarse facial features
  • mandibular prognathia
  • prolactin excess
  • growth hormone excess
  • hyperhidrosis
  • large hands
  • hypertrophic cardiomyopathy
  • left ventricular hypertrophy
  • long foot
  • frontal bossing
  • accelerated skeletal maturation
  • type ii diabetes mellitus
  • pituitary prolactin cell adenoma
  • proportionate tall stature
  • pituitary growth hormone cell adenoma
  • premature pubarche
  • increased serum insulin-like growth factor 1
  • galactorrhea

HPO human phenotypes related to Pituitary Adenoma, Growth Hormone-Secreting:

(show all 12)
id Description Frequency HPO Source Accession
1 coarse facial features HP:0000280
2 hypertension HP:0000822
3 growth hormone excess HP:0000845
4 menstrual irregularities HP:0000858
5 prolactin excess HP:0000870
6 cardiomyopathy HP:0001638
7 left ventricular hypertrophy HP:0001712
8 pituitary adenoma HP:0002893
9 pituitary prolactin cell adenoma HP:0006767
10 pituitary growth hormone cell adenoma HP:0011760
11 increased serum insulin-like growth factor 1 {comment="hpo HP:0030269
12 galactorrhea HP:0100829

Drugs & Therapeutics for Pituitary Adenoma, Growth Hormone-Secreting

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
OctreotidePhase 4, Phase 220683150-76-9383414, 6400441
Synonyms:
(4R,7S,10S,13R,16S,19R)-10-(4-aminobutyl)-19-[[(2R)-2-amino-3-phenylpropanoyl]amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-[(1R)-1-hydroxyethyl]-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-Aminobutyl)-19-((2-amino-3-phenylpropanoyl)amino)-16-benzyl-7-(1-hydroxyethyl)-N-(2-hydroxy-1-(hydroxymethyl)propyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentaa
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-(1,3-dihydroxybutan-2-yl)-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
79517-01-4 (acetate salt)
83150-76-9
AC1L1GVU
AC1L8LCD
AC1L9M4X
C07306
C5H12O2.C4H10
CHEBI:427278
CHEBI:611465
CHEMBL1680
CID383414
CID448601
CID54374
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-L-cysteinyl-L-threoninol cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2->7)-disulfide
D00442
DRG-0115
HMS2090C09
HS-2020
 
L-Cysteinamide, D-phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L- threonyl-N-(2-hydroxy-1-(hydroxymethyl)propyl)-, cyclic (2->7)-disulfide, (R-(R*
L000453
LS-177735
LS-187135
Longastatin
NCGC00181796-01
NCI60_025753
Octreotida
Octreotida [Spanish]
Octreotide
Octreotide (USAN/INN)
Octreotide Acetate Salt
Octreotide [USAN:INN:BAN]
Octreotide-LAR
Octreotidum
Octreotidum [Latin]
Octrotide
SAN 201-995
SM 201-995
SMS 201-995
SMS-201-995
Sandostatine
Sandoz 201-995
UNII-RWM8CCW8GP
nchembio.184-comp3
zacycloicosane-4-carboxamide acetate
2
protease inhibitorsPhase 15157
Synonyms:
 
protease inhibitors
3glucocorticoidsPhase 14756
4Dexamethasone acetatePhase 120011177-87-3
5
DexamethasonePhase 1200150-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
 
Dexameth
Dexamethansone
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038

Interventional clinical trials:

idNameStatusNCT IDPhase
1Preoperative Octreotide Treatment of AcromegalyCompletedNCT00521300Phase 4
2An Extension Study to Assess the Long-term Safety and Efficacy of Pasireotide in Patients With AcromegalyCompletedNCT00171730Phase 2
3Temozolomide in Treating Patients With Invasive Pituitary TumorsWithdrawnNCT00601289Phase 2
4Gamma-Secretase Inhibitor RO4929097 in Treating Young Patients With Relapsed or Refractory Solid Tumors, CNS Tumors, Lymphoma, or T-Cell LeukemiaTerminatedNCT01088763Phase 1
5Glycemic Fluctuations in Newly Diagnosed Growth Hormone-Secreting Pituitary Adenoma and Cushing Syndrome SubjectsRecruitingNCT02574793
6Interdisciplinary Pituitary Disorders Centre of Excellence: Assessment of Patient Education ToolsRecruitingNCT01775332
7Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPARecruitingNCT00461188
8Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in AcromegalyRecruitingNCT01902420

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

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

id Genetic test Affiliating Genes
1 Somatotroph Adenoma25

Anatomical Context for Pituitary Adenoma, Growth Hormone-Secreting

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

34
Pituitary, T cells

Animal Models for Pituitary Adenoma, Growth Hormone-Secreting or affiliated genes

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MGI Mouse Phenotypes related to Pituitary Adenoma, Growth Hormone-Secreting:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5AIP, BTK, GHRHR, GNAS, IGF1, PRL
2MP:00020068.4AIP, BTK, GAST, GNAS, IGF1, PRL
3MP:00053877.5BTK, GAST, GHRH, GHRHR, GNAS, IGF1
4MP:00053796.8AIP, GAST, GHRH, GHRHR, GNAS, IGF1
5MP:00053785.9AIP, BTK, GHRH, GHRHR, GHSR, GNAS
6MP:00053765.8AIP, BTK, GAST, GHRH, GHRHR, GHSR

Publications for Pituitary Adenoma, Growth Hormone-Secreting

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Variations for Pituitary Adenoma, Growth Hormone-Secreting

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

5 (show all 57)
id Gene Variation Type Significance SNP ID Assembly Location
1GNASNM_000516.5(GNAS): c.601C> T (p.Arg201Cys)single nucleotide variantPathogenicrs11554273GRCh37Chr 20, 57484420: 57484420
2GNASNM_000516.5(GNAS): c.602G> A (p.Arg201His)single nucleotide variantPathogenicrs121913495GRCh37Chr 20, 57484421: 57484421
3GNASNM_000516.5(GNAS): c.680A> G (p.Gln227Arg)single nucleotide variantPathogenicrs121913494GRCh37Chr 20, 57484596: 57484596
4GNASNM_000516.5(GNAS): c.601C> A (p.Arg201Ser)single nucleotide variantPathogenicrs11554273GRCh37Chr 20, 57484420: 57484420
5AIPNM_003977.2(AIP): c.-1212_279+578deldeletionLikely pathogenicGRCh37Chr 11, 67249418: 67255234
6AIPNM_003977.2(AIP): c.(?_1)_(*_?)deldeletionLikely pathogenic
7AIPNM_003977.3(AIP): c.100-1025_279+357del1562deletionLikely pathogenicGRCh37Chr 11, 67253452: 67255013
8AIPNM_003977.3(AIP): c.138_161del24 (p.Gly47_Arg54del)deletionLikely pathogenicrs267606537GRCh37Chr 11, 67254515: 67254538
9AIPNM_003977.3(AIP): c.166C> A (p.Arg56Ser)single nucleotide variantLikely pathogenicrs267606538GRCh37Chr 11, 67254543: 67254543
10AIPNM_003977.3(AIP): c.174G> C (p.Lys58Asn)single nucleotide variantLikely pathogenicrs267606539GRCh37Chr 11, 67254551: 67254551
11AIPNM_003977.3(AIP): c.241C> T (p.Arg81Ter)single nucleotide variantPathogenicrs267606541GRCh37Chr 11, 67254618: 67254618
12AIPNM_003977.3(AIP): c.244_248delGAAGG (p.Glu82Glyfs)deletionLikely pathogenicrs267606542GRCh37Chr 11, 67254621: 67254625
13AIPNM_003977.3(AIP): c.249G> T (p.Gly83=)single nucleotide variantLikely pathogenicrs104895072GRCh37Chr 11, 67254626: 67254626
14AIPNM_003977.3(AIP): c.250G> A (p.Glu84Lys)single nucleotide variantLikely pathogenicrs267606543GRCh37Chr 11, 67254627: 67254627
15AIPNM_003977.3(AIP): c.280-1G> Asingle nucleotide variantLikely pathogenicrs267606544GRCh37Chr 11, 67256737: 67256737
16AIPNM_003977.3(AIP): c.286_287delGT (p.Val96Profs)deletionLikely pathogenicrs267606545GRCh37Chr 11, 67256744: 67256745
17AIPNM_003977.3(AIP): c.2T> C (p.Met1Thr)single nucleotide variantLikely pathogenicrs267606546GRCh37Chr 11, 67250631: 67250631
18AIPNM_003977.3(AIP): c.308A> G (p.Lys103Arg)single nucleotide variantLikely pathogenicrs267606548GRCh37Chr 11, 67256766: 67256766
19AIPNM_003977.3(AIP): c.350delG (p.Gly117Alafs)deletionLikely pathogenicrs267606549GRCh37Chr 11, 67256808: 67256808
20AIPNM_003977.3(AIP): c.3_4insC (p.Ala2Argfs)insertionLikely pathogenicrs267606547GRCh37Chr 11, 67250632: 67250633
21AIPNM_003977.3(AIP): c.404delA (p.His135Leufs)deletionLikely pathogenicrs267606551GRCh37Chr 11, 67256862: 67256862
22AIPNM_003977.3(AIP): c.424C> T (p.Gln142Ter)single nucleotide variantLikely pathogenicrs267606552GRCh37Chr 11, 67256882: 67256882
23AIPNM_003977.3(AIP): c.468+1G> Asingle nucleotide variantLikely pathogenicrs267606554GRCh37Chr 11, 67256927: 67256927
24AIPNM_003977.3(AIP): c.469-2A> Gsingle nucleotide variantLikely pathogenicrs267606556GRCh37Chr 11, 67257507: 67257507
25AIPNM_003977.3(AIP): c.490C> T (p.Gln164Ter)single nucleotide variantLikely pathogenicrs104895073GRCh37Chr 11, 67257530: 67257530
26AIPNM_003977.3(AIP): c.500delC (p.Pro167Hisfs)deletionLikely pathogenicrs267606557GRCh37Chr 11, 67257540: 67257540
27AIPNM_003977.3(AIP): c.517_521delGAAGA (p.Glu174Glyfs)deletionLikely pathogenicrs267606558GRCh37Chr 11, 67257557: 67257561
28AIPNM_003977.3(AIP): c.550C> T (p.Gln184Ter)single nucleotide variantLikely pathogenicrs267606560GRCh37Chr 11, 67257590: 67257590
29AIPNM_003977.3(AIP): c.584T> C (p.Val195Ala)single nucleotide variantLikely pathogenicrs267606561GRCh37Chr 11, 67257624: 67257624
30AIPNM_003977.3(AIP): c.591G> A (p.Glu197=)single nucleotide variantLikely pathogenicrs202006716GRCh37Chr 11, 67257631: 67257631
31AIPNM_003977.3(AIP): c.601A> T (p.Lys201Ter)single nucleotide variantLikely pathogenicrs267606563GRCh37Chr 11, 67257641: 67257641
32AIPNM_003977.3(AIP): c.646G> T (p.Glu216Ter)single nucleotide variantLikely pathogenicrs267606565GRCh37Chr 11, 67257787: 67257787
33AIPNM_003977.3(AIP): c.649C> T (p.Gln217Ter)single nucleotide variantLikely pathogenicrs267606566GRCh37Chr 11, 67257790: 67257790
34AIPNM_003977.3(AIP): c.662dupC (p.Glu222Terfs)duplicationLikely pathogenicrs104895075GRCh37Chr 11, 67257803: 67257803
35AIPNM_003977.3(AIP): c.70G> T (p.Glu24Ter)single nucleotide variantLikely pathogenicrs267606568GRCh37Chr 11, 67250699: 67250699
36AIPNM_003977.3(AIP): c.713G> A (p.Cys238Tyr)single nucleotide variantLikely pathogenicrs267606569GRCh37Chr 11, 67257854: 67257854
37AIPNM_003977.3(AIP): c.715C> T (p.Gln239Ter)single nucleotide variantLikely pathogenicrs267606571GRCh37Chr 11, 67257856: 67257856
38AIPNM_003977.3(AIP): c.721A> G (p.Lys241Glu)single nucleotide variantPathogenicrs267606573GRCh37Chr 11, 67257862: 67257862
39AIPNM_003977.3(AIP): c.721A> T (p.Lys241Ter)single nucleotide variantLikely pathogenicrs267606573GRCh37Chr 11, 67257862: 67257862
40AIPNM_003977.3(AIP): c.742_744delTAC (p.Tyr248del)deletionLikely pathogenicrs267606574GRCh37Chr 11, 67257883: 67257885
41AIPNM_003977.3(AIP): c.74_81delTCCCGGACins7indelLikely pathogenicrs104895074GRCh37Chr 11, 67250703: 67250710
42AIPNM_003977.3(AIP): c.769A> G (p.Ile257Val)single nucleotide variantLikely pathogenicrs267606575GRCh37Chr 11, 67257910: 67257910
43AIPNM_003977.3(AIP): c.803A> G (p.Tyr268Cys)single nucleotide variantLikely pathogenicrs267606577GRCh37Chr 11, 67258274: 67258274
44AIPNM_003977.3(AIP)duplicationPathogenicrs267606578GRCh37Chr 11, 67258276: 67258296
45AIPNM_003977.3(AIP): c.807C> T (p.Phe269=)single nucleotide variantPathogenicrs139407567GRCh37Chr 11, 67258278: 67258278
46AIPNM_003977.3(AIP): c.811C> T (p.Arg271Trp)single nucleotide variantPathogenicrs267606579GRCh37Chr 11, 67258282: 67258282
47AIPNM_003977.3(AIP): c.829G> C (p.Ala277Pro)single nucleotide variantLikely pathogenicrs267606581GRCh37Chr 11, 67258300: 67258300
48AIPNM_003977.3(AIP): c.854_857delAGGC (p.Gln285Leufs)deletionLikely pathogenicrs267606582GRCh37Chr 11, 67258325: 67258328
49AIPNM_003977.3(AIP): c.919dupC (p.Arg307Profs)duplicationLikely pathogenicrs267606589GRCh37Chr 11, 67258390: 67258390
50AIPNM_003977.3(AIP): c.40C> T (p.Gln14Ter)single nucleotide variantPathogenicrs104894194GRCh37Chr 11, 67250669: 67250669
51AIPNM_003977.3(AIP): c.469-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs267606555GRCh37Chr 11, 67257508: 67257508
52AIPNM_003977.3(AIP): c.910C> T (p.Arg304Ter)single nucleotide variantPathogenicrs104894195GRCh37Chr 11, 67258381: 67258381
53AIPNM_003977.3(AIP): c.66_71delAGGAGA (p.Gly23_Glu24del)deletionLikely pathogenic, Pathogenicrs267606567GRCh37Chr 11, 67250695: 67250700
54AIPNM_003977.3(AIP): c.824dupA (p.His275Glnfs)duplicationLikely pathogenic, Pathogenicrs267606580GRCh37Chr 11, 67258295: 67258295
55AIPNM_003977.3(AIP): c.542delT (p.Ile182Serfs)deletionLikely pathogenic, Pathogenicrs267606559GRCh37Chr 11, 67257582: 67257582
56AIPNM_003977.3(AIP): c.804C> A (p.Tyr268Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121908356GRCh37Chr 11, 67258275: 67258275
57AIPNM_003977.3(AIP): c.64C> T (p.Arg22Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121908357GRCh37Chr 11, 67250693: 67250693

Cosmic variations for Pituitary Adenoma, Growth Hormone-Secreting:

8
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM27887GNASpituitary,NS,adenoma,GHc.601C>Tp.R201C0
2COSM27888GNASpituitary,NS,adenoma,GHc.680A>Tp.Q227L0
3COSM27896GNASpituitary,NS,adenoma,GHc.680A>Gp.Q227R0
4COSM27895GNASpituitary,NS,adenoma,GHc.602G>Ap.R201H0
5COSM27899GNASpituitary,NS,adenoma,GHc.601C>Ap.R201S0
6COSM483HRASpituitary,NS,adenoma,GHc.35G>Tp.G12V0

Expression for genes affiliated with Pituitary Adenoma, Growth Hormone-Secreting

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

Pathways for genes affiliated with Pituitary Adenoma, Growth Hormone-Secreting

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GO Terms for genes affiliated with Pituitary Adenoma, Growth Hormone-Secreting

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of hormone secretionGO:004688710.2GHRH, GHRHR
2negative regulation of interleukin-1 beta productionGO:003269110.2GHSR, TNFAIP3
3positive regulation of growth hormone secretionGO:00601249.9GHRH, GHRHR
4growth hormone secretionGO:00302529.9GHRH, GHRHR, GHSR
5adenohypophysis developmentGO:00219849.8GHRH, GHRHR
6cellular response to insulin stimulusGO:00328699.7GHRHR, GHSR, IGF1
7positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435689.7GHRH, GHRHR, GHSR, IGF1
8adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.6GHRH, GHRHR, GNAS
9positive regulation of multicellular organism growthGO:00400189.5GHRH, GHRHR, GHSR
10response to foodGO:00320949.4GAST, GHRH, GHSR
11regulation of multicellular organism growthGO:00400149.4IGF1, PRL
12cell-cell signalingGO:00072679.2GHRH, GPR101, SST, TSHB

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

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor bindingGO:000515910.3GNAS, IGF1
2growth hormone-releasing hormone receptor activityGO:001652010.2GHRHR, GHSR
3peptide hormone bindingGO:00170469.8GHRHR, GHSR
4hormone activityGO:00051798.0GAST, IGF1, PRL, SST, TSHB

Sources for Pituitary Adenoma, Growth Hormone-Secreting

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet