PAGH1
MCID: PTT050
MIFTS: 48

Pituitary Adenoma, Growth Hormone-Secreting (PAGH1) malady

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

Aliases & Classifications for Pituitary Adenoma, Growth Hormone-Secreting

About this section
Sources:
11Disease Ontology, 13DISEASES, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Pituitary Adenoma, Growth Hormone-Secreting 52
Pituitary Adenoma, Growth Hormone-Secreting, 1 52 70
Growth Hormone Secreting Pituitary Adenoma 11 13
Growth Hormone-Secreting Pituitary Adenoma 39 68
Somatotroph Adenoma 11 27
Growth Hormone Producing Adenoma of the Pituitary 11
Growth Hormone Secreting Adenoma of Pituitary 11
Infantile and Juvenile Forms of Acromegaly 54
Acromegaly Due to Pituitary Adenoma 1 70
Pituitary Adenoma, Familial Isolated 68
Acromegaly Due to Pituitary Adenoma 70
Familial Isolated Pituitary Adenoma 70
Familial Isolated Somatotropinomas 70
Multiple Gastrointestinal Atresias 68
 
Isolated Familial Somatotropinoma 70
Pituitary Adenoma Predisposition 68
Somatotrophinoma, Familial 68
Familial Somatotrophinoma 70
Hypophyseal Gigantism 54
Pituitary Gigantism 54
Gigantism Pituitary 50
Acromegaly, Somatic 52
Gigantism 68
Pagh1 70
Fipa 70
Ifs 70
Fis 70

Characteristics:

HPO:

64
pituitary adenoma, growth hormone-secreting:
Inheritance: autosomal dominant inheritance, somatic mutation

Classifications:



External Ids:

OMIM52 102200
Disease Ontology11 DOID:6255
NCIt45 C7461
Orphanet54 ORPHA99725
SNOMED-CT62 254957009
MESH via Orphanet40 D005877
UMLS via Orphanet69 C0017547
ICD10 via Orphanet31 E22.0

Summaries for Pituitary Adenoma, Growth Hormone-Secreting

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OMIM:52 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 rickets and pituitary adenoma, acth-secreting, and has symptoms including endocrine system signs and symptoms, 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 Long-term depression and Ovarian steroidogenesis. Affiliated tissues include pituitary, and related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

UniProtKB/Swiss-Prot:70 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 145)
idRelated DiseaseScoreTop Affiliating Genes
1rickets31.2IGF1, SST
2pituitary adenoma, acth-secreting30.2AIP, GNAS, GPR101, IGF1, IGFBP3, PRL
3pituitary adenoma, growth hormone-secreting 212.6
4familial isolated pituitary adenoma12.5
5aip-related familial isolated pituitary adenomas12.3
6congenital disorder of glycosylation, type if12.1
7neuropathy, hereditary sensory, type if12.1
8amelogenesis imperfecta, type if12.1
9acromegaly11.6
10fecal incontinence11.3
11pituitary adenoma, prolactin-secreting11.2
12usher syndrome, type 1f11.1
13vaginitis11.0
14mccune-albright syndrome, somatic, mosaic10.9
15tuberculosis10.9
16hepatitis b10.9
17syphilis10.9
18lyme disease10.8
19malaria10.8
20constipation10.8
21headache10.8
22fainting10.8
23sinusitis10.8
24aortic aneurysm10.8
25aneurysm10.8
26biotinidase deficiency10.8
27pneumonia10.8
28pulmonary embolism10.8
29lymphoma10.7
30h. pylori infection10.7
31kidney disease10.7
32rectal prolapse10.7
33prostate cancer10.7
34attention deficit-hyperactivity disorder10.7
35sickle cell anemia10.7
36multiple myeloma10.7
37obsessive-compulsive disorder10.7
38osteochondritis dissecans10.7
39thalassemia10.7
40lactose intolerance10.7
41hellp syndrome10.7
42coccidioidomycosis10.7
43thyroid cancer10.7
44bursitis10.7
45thoracic outlet syndrome10.7
46meningitis10.7
47head injury10.7
48tonsillitis10.7
49diarrhea10.7
50fatty liver disease10.7

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

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Symptoms by clinical synopsis from OMIM:

102200

Clinical features from OMIM:

102200

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

 54 64 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature54 Very frequent (99-80%)
2 amenorrhea64 54 Frequent (79-30%) HP:0000141
3 coarse facial features64 54 Very frequent (99-80%) HP:0000280
4 mandibular prognathia64 54 Very frequent (99-80%) HP:0000303
5 prolactin excess64 54 Frequent (79-30%) HP:0000870
6 growth hormone excess64 54 Very frequent (99-80%) HP:0000845
7 hyperhidrosis64 54 Very frequent (99-80%) HP:0000975
8 large hands64 54 Very frequent (99-80%) HP:0001176
9 hypertrophic cardiomyopathy64 54 Very frequent (99-80%) HP:0001639
10 left ventricular hypertrophy64 54 Very frequent (99-80%) HP:0001712
11 long foot64 54 Very frequent (99-80%) HP:0001833
12 frontal bossing64 54 Very frequent (99-80%) HP:0002007
13 accelerated skeletal maturation64 54 Very frequent (99-80%) HP:0005616
14 type ii diabetes mellitus64 54 Very frequent (99-80%) HP:0005978
15 pituitary prolactin cell adenoma64 54 Frequent (79-30%) HP:0006767
16 proportionate tall stature64 54 Very frequent (99-80%) HP:0011407
17 pituitary growth hormone cell adenoma64 54 Very frequent (99-80%) HP:0011760
18 premature pubarche64 54 Very frequent (99-80%) HP:0012411
19 increased serum insulin-like growth factor 154 Very frequent (99-80%)
20 galactorrhea64 54 Occasional (29-5%) HP:0100829
21 hypertension64 HP:0000822
22 menstrual irregularities64 HP:0000858
23 cardiomyopathy64 HP:0001638
24 pituitary adenoma64 HP:0002893
25 increased serum insulin-like growth factor 1 {comment="hpo64 HP:0030269

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


endocrine system signs and symptoms

MGI Mouse Phenotypes related to Pituitary Adenoma, Growth Hormone-Secreting according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0AIP, GNAS, IGFBP3, PRL
2MP:00053798.6AIP, GNAS, IGF1, IGFBP3, PRL
3MP:00107718.6AIP, GNAS, IGF1, IGFBP3, PRL
4MP:00020068.3AIP, GNAS, IGF1, PRL

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):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Octreotideapproved, investigationalPhase 4, Phase 222383150-76-9383414, 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
2HormonesPhase 4, Phase 2, Phase 114415
3Gastrointestinal AgentsPhase 4, Phase 18402
4Antineoplastic Agents, HormonalPhase 4, Phase 15592
5
Dexamethasoneapproved, investigational, vet_approvedPhase 1217150-02-25743
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
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 113168
7Hormone AntagonistsPhase 113180
8HIV Protease InhibitorsPhase 15470
9Peripheral Nervous System AgentsPhase 123689
10
protease inhibitorsPhase 15471
Synonyms:
 
protease inhibitors
11glucocorticoidsPhase 15103
12Dexamethasone acetatePhase 121711177-87-3
13Autonomic AgentsPhase 110150
14BB 1101Phase 12171
15AntiemeticsPhase 14022
16Dexamethasone 21-phosphatePhase 12171
17Anti-Inflammatory AgentsPhase 110729

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
5Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in AcromegalyUnknown statusNCT01902420
6Glycemic Fluctuations in Newly Diagnosed Growth Hormone-Secreting Pituitary Adenoma and Cushing Syndrome SubjectsRecruitingNCT02574793
7Interdisciplinary Pituitary Disorders Centre of Excellence: Assessment of Patient Education ToolsRecruitingNCT01775332
8Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPARecruitingNCT00461188

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 Adenoma27

Anatomical Context for Pituitary Adenoma, Growth Hormone-Secreting

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

36
Pituitary

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 55)
id Gene Variation Type Significance SNP ID Assembly Location
1GNASNM_ 000516.5(GNAS): c.601C> T (p.Arg201Cys)SNVPathogenic/ Likely pathogenicrs11554273GRCh37Chr 20, 57484420: 57484420
2GNASNM_ 000516.5(GNAS): c.602G> A (p.Arg201His)SNVPathogenic/ Likely pathogenicrs121913495GRCh37Chr 20, 57484421: 57484421
3GNASNM_ 000516.5(GNAS): c.680A> G (p.Gln227Arg)SNVPathogenicrs121913494GRCh37Chr 20, 57484596: 57484596
4GNASNM_ 000516.5(GNAS): c.601C> A (p.Arg201Ser)SNVPathogenicrs11554273GRCh37Chr 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)SNVLikely pathogenicrs267606538GRCh37Chr 11, 67254543: 67254543
10AIPNM_ 003977.3(AIP): c.241C> T (p.Arg81Ter)SNVPathogenicrs267606541GRCh37Chr 11, 67254618: 67254618
11AIPNM_ 003977.3(AIP): c.244_ 248delGAAGG (p.Glu82Glyfs)deletionLikely pathogenicrs267606542GRCh37Chr 11, 67254621: 67254625
12AIPNM_ 003977.3(AIP): c.249G> T (p.Gly83=)SNVLikely pathogenicrs104895072GRCh37Chr 11, 67254626: 67254626
13AIPNM_ 003977.3(AIP): c.250G> A (p.Glu84Lys)SNVLikely pathogenicrs267606543GRCh37Chr 11, 67254627: 67254627
14AIPNM_ 003977.3(AIP): c.280-1G> ASNVLikely pathogenicrs267606544GRCh37Chr 11, 67256737: 67256737
15AIPNM_ 003977.3(AIP): c.286_ 287delGT (p.Val96Profs)deletionLikely pathogenicrs267606545GRCh37Chr 11, 67256744: 67256745
16AIPNM_ 003977.3(AIP): c.2T> C (p.Met1Thr)SNVLikely pathogenicrs267606546GRCh37Chr 11, 67250631: 67250631
17AIPNM_ 003977.3(AIP): c.308A> G (p.Lys103Arg)SNVLikely pathogenicrs267606548GRCh37Chr 11, 67256766: 67256766
18AIPNM_ 003977.3(AIP): c.350delG (p.Gly117Alafs)deletionLikely pathogenicrs267606549GRCh37Chr 11, 67256808: 67256808
19AIPNM_ 003977.3(AIP): c.3_ 4insC (p.Ala2Argfs)insertionLikely pathogenicrs267606547GRCh37Chr 11, 67250632: 67250633
20AIPNM_ 003977.3(AIP): c.404delA (p.His135Leufs)deletionLikely pathogenicrs267606551GRCh37Chr 11, 67256862: 67256862
21AIPNM_ 003977.3(AIP): c.424C> T (p.Gln142Ter)SNVLikely pathogenicrs267606552GRCh37Chr 11, 67256882: 67256882
22AIPNM_ 003977.3(AIP): c.468+1G> ASNVLikely pathogenicrs267606554GRCh37Chr 11, 67256927: 67256927
23AIPNM_ 003977.3(AIP): c.469-2A> GSNVLikely pathogenicrs267606556GRCh37Chr 11, 67257507: 67257507
24AIPNM_ 003977.3(AIP): c.490C> T (p.Gln164Ter)SNVLikely pathogenicrs104895073GRCh37Chr 11, 67257530: 67257530
25AIPNM_ 003977.3(AIP): c.500delC (p.Pro167Hisfs)deletionLikely pathogenicrs267606557GRCh37Chr 11, 67257540: 67257540
26AIPNM_ 003977.3(AIP): c.517_ 521delGAAGA (p.Glu174Glyfs)deletionLikely pathogenicrs267606558GRCh37Chr 11, 67257557: 67257561
27AIPNM_ 003977.3(AIP): c.550C> T (p.Gln184Ter)SNVLikely pathogenicrs267606560GRCh37Chr 11, 67257590: 67257590
28AIPNM_ 003977.3(AIP): c.584T> C (p.Val195Ala)SNVLikely pathogenicrs267606561GRCh37Chr 11, 67257624: 67257624
29AIPNM_ 003977.3(AIP): c.591G> A (p.Glu197=)SNVLikely pathogenicrs202006716GRCh37Chr 11, 67257631: 67257631
30AIPNM_ 003977.3(AIP): c.601A> T (p.Lys201Ter)SNVLikely pathogenicrs267606563GRCh37Chr 11, 67257641: 67257641
31AIPNM_ 003977.3(AIP): c.646G> T (p.Glu216Ter)SNVLikely pathogenicrs267606565GRCh37Chr 11, 67257787: 67257787
32AIPNM_ 003977.3(AIP): c.649C> T (p.Gln217Ter)SNVLikely pathogenicrs267606566GRCh37Chr 11, 67257790: 67257790
33AIPNM_ 003977.3(AIP): c.662dupC (p.Glu222Terfs)duplicationLikely pathogenicrs104895075GRCh37Chr 11, 67257803: 67257803
34AIPNM_ 003977.3(AIP): c.70G> T (p.Glu24Ter)SNVLikely pathogenicrs267606568GRCh37Chr 11, 67250699: 67250699
35AIPNM_ 003977.3(AIP): c.713G> A (p.Cys238Tyr)SNVLikely pathogenicrs267606569GRCh37Chr 11, 67257854: 67257854
36AIPNM_ 003977.3(AIP): c.715C> T (p.Gln239Ter)SNVLikely pathogenicrs267606571GRCh37Chr 11, 67257856: 67257856
37AIPNM_ 003977.3(AIP): c.721A> G (p.Lys241Glu)SNVPathogenicrs267606573GRCh37Chr 11, 67257862: 67257862
38AIPNM_ 003977.3(AIP): c.721A> T (p.Lys241Ter)SNVLikely pathogenicrs267606573GRCh37Chr 11, 67257862: 67257862
39AIPNM_ 003977.3(AIP): c.742_ 744delTAC (p.Tyr248del)deletionLikely pathogenicrs267606574GRCh37Chr 11, 67257883: 67257885
40AIPNM_ 003977.3(AIP): c.74_ 81delTCCCGGACins7indelLikely pathogenicrs104895074GRCh37Chr 11, 67250703: 67250710
41AIPNM_ 003977.3(AIP): c.769A> G (p.Ile257Val)SNVLikely pathogenicrs267606575GRCh37Chr 11, 67257910: 67257910
42AIPNM_ 003977.3(AIP): c.803A> G (p.Tyr268Cys)SNVLikely pathogenicrs267606577GRCh37Chr 11, 67258274: 67258274
43AIPNM_ 003977.3(AIP): c.805_ 825dup21 (p.His275_ Ala276insPheLysArgGlyLysAlaHis)duplicationPathogenicrs267606578GRCh37Chr 11, 67258276: 67258296
44AIPNM_ 003977.3(AIP): c.811C> T (p.Arg271Trp)SNVPathogenicrs267606579GRCh37Chr 11, 67258282: 67258282
45AIPNM_ 003977.3(AIP): c.829G> C (p.Ala277Pro)SNVLikely pathogenicrs267606581GRCh37Chr 11, 67258300: 67258300
46AIPNM_ 003977.3(AIP): c.854_ 857delAGGC (p.Gln285Leufs)deletionLikely pathogenicrs267606582GRCh37Chr 11, 67258325: 67258328
47AIPNM_ 003977.3(AIP): c.919dupC (p.Arg307Profs)duplicationLikely pathogenicrs267606589GRCh37Chr 11, 67258390: 67258390
48AIPNM_ 003977.3(AIP): c.40C> T (p.Gln14Ter)SNVPathogenicrs104894194GRCh37Chr 11, 67250669: 67250669
49AIPNM_ 003977.3(AIP): c.469-1G> ASNVPathogenic/ Likely pathogenicrs267606555GRCh37Chr 11, 67257508: 67257508
50AIPNM_ 003977.3(AIP): c.910C> T (p.Arg304Ter)SNVPathogenicrs104894195GRCh37Chr 11, 67258381: 67258381
51AIPNM_ 003977.3(AIP): c.66_ 71delAGGAGA (p.Gly23_ Glu24del)deletionPathogenic/ Likely pathogenicrs267606567GRCh37Chr 11, 67250695: 67250700
52AIPNM_ 003977.3(AIP): c.824dupA (p.His275Glnfs)duplicationPathogenic/ Likely pathogenicrs267606580GRCh37Chr 11, 67258295: 67258295
53AIPNM_ 003977.3(AIP): c.542delT (p.Ile182Serfs)deletionPathogenic/ Likely pathogenicrs267606559GRCh37Chr 11, 67257582: 67257582
54AIPNM_ 003977.3(AIP): c.804C> A (p.Tyr268Ter)SNVPathogenic/ Likely pathogenicrs121908356GRCh37Chr 11, 67258275: 67258275
55AIPNM_ 003977.3(AIP): c.64C> T (p.Arg22Ter)SNVPathogenic/ Likely 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.R201C32
2COSM27888GNASpituitary,NS,adenoma,GHc.680A>Tp.Q227L32
3COSM27896GNASpituitary,NS,adenoma,GHc.680A>Gp.Q227R32
4COSM27899GNASpituitary,NS,adenoma,GHc.601C>Ap.R201S32
5COSM27895GNASpituitary,NS,adenoma,GHc.602G>Ap.R201H32
6COSM483HRASpituitary,NS,adenoma,GHc.35G>Tp.G12V32

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

idSuper pathwaysScoreTop Affiliating Genes
19.5GNAS, IGF1
29.5GNAS, IGF1
39.4IGF1, IGFBP3

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

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

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:00169429.5IGF1, IGFBP3
2insulin-like growth factor ternary complexGO:00425679.4IGF1, IGFBP3
3extracellular regionGO:00055767.8GNAS, IGF1, IGFBP3, PRL, SST

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1adenylate cyclase-activating adrenergic receptor signaling pathwayGO:007188010.3GNAS, GPR101
2positive regulation of osteoblast differentiationGO:004566910.2GNAS, IGF1
3positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.1IGF1, IGFBP3
4positive regulation of epithelial cell proliferationGO:00506799.8IGF1, PRL
5regulation of multicellular organism growthGO:00400149.8IGF1, PRL
6response to heatGO:00094089.3IGF1, SST
7cellular protein metabolic processGO:00442679.3IGF1, IGFBP3, PRL
8response to drugGO:00424939.1GNAS, PRL, SST

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:00051599.5GNAS, IGF1
2hormone activityGO:00051798.8IGF1, PRL, SST

Sources for Pituitary Adenoma, Growth Hormone-Secreting

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet