MCID: PTT050
MIFTS: 48

Pituitary Adenoma, Growth Hormone-Secreting 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 39 68
Growth Hormone Secreting Pituitary Adenoma 11 13
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
Familial Isolated Pituitary Adenoma 70
Acromegaly Due to 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
Gigantism Pituitary 50
Acromegaly, Somatic 52
Pituitary Gigantism 54
Gigantism 68
Pagh1 70
Fipa 70
Fis 70
Ifs 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 pituitary adenoma, prolactin-secreting and pituitary adenoma, growth hormone-secreting 2, 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 t cells, 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 121)
idRelated DiseaseScoreTop Affiliating Genes
1pituitary adenoma, prolactin-secreting29.2AIP, GNAS, GPR101, IGF1, PRL, SST
2pituitary adenoma, growth hormone-secreting 212.6
3familial isolated pituitary adenoma12.5
4aip-related familial isolated pituitary adenomas12.3
5congenital disorder of glycosylation, type if12.1
6amelogenesis imperfecta, type if12.1
7neuropathy, hereditary sensory, type if12.1
8acromegaly11.6
9fecal incontinence11.3
10pituitary adenoma, acth-secreting11.1
11vaginitis11.0
12usher syndrome, type 1f11.0
13mccune-albright syndrome, somatic, mosaic11.0
14tuberculosis10.9
15hepatitis b10.9
16syphilis10.9
17fainting10.9
18malaria10.9
19pituitary adenoma10.8
20adenoma10.8
21als2-related disorders10.4AIP, GNAS
22cone-rod dystrophy 510.3AIP, GNAS
23primary biliary cholangitis10.2GNAS, IGF1
24spinal muscular atrophy type 1 with congenital bone fractures10.2IGF1, IGFBP3
25seizures mental retardation hair dysplasia10.2IGF1, IGFBP3
26breast large cell neuroendocrine carcinoma10.2IGF1, IGFBP3
27cetp-related hyperalphalipoproteinemia10.2IGF1, IGFBP3
28diarrhea 3, secretory sodium, congenital, syndromic10.2IGF1, IGFBP3
29rete ovarii cystadenofibroma10.2IGF1, IGFBP3
30growth hormone insensitivity, partial10.2IGF1, IGFBP3
31fetal methyl mercury syndrome10.2IGF1, IGFBP3
32hyperinsulinemic hypoglycemia, familial, 510.2IGF1, IGFBP3
33fibroma10.1GNAS, SST
34bone marrow cancer10.1IGF1, IGFBP3
35endotheliitis10.1
36growth retardation hydrocephaly lung hypoplasia10.1IGF1, IGFBP3
37kartagener syndrome10.1IGF1, SST
38carcinoma of the vocal tract10.1IGF1, SST
39signet ring cell adenocarcinoma10.0IGF1, IGFBP3
40tropical sprue10.0IGF1, SST
41retinal microaneurysm10.0AIP, PRL
42albinism, oculocutaneous, type ia10.0IGF1, IGFBP3
43patellofemoral pain syndrome10.0IGF1, SST
44ehlers-danlos syndrome, type viii10.0AIP, PRL
45congenital hypomyelination neuropathy10.0IGF1, IGFBP3
46gangliocytoma10.0
47fumarate hydratase deficiency10.0GNAS, PRL
48cerebellar vermis medulloblastoma10.0IGF1, IGFBP3
49neuropathy, hereditary sensory and autonomic, type vi10.0IGF1, SST
50fibrosclerosis of breast9.9IGF1, PRL

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 amenorrhea54 Frequent (79-30%)
3 coarse facial features64 54 Very frequent (99-80%) HP:0000280
4 mandibular prognathia54 Very frequent (99-80%)
5 prolactin excess64 54 Frequent (79-30%) HP:0000870
6 growth hormone excess64 54 Very frequent (99-80%) HP:0000845
7 hyperhidrosis54 Very frequent (99-80%)
8 large hands54 Very frequent (99-80%)
9 hypertrophic cardiomyopathy54 Very frequent (99-80%)
10 left ventricular hypertrophy64 54 Very frequent (99-80%) HP:0001712
11 long foot54 Very frequent (99-80%)
12 frontal bossing54 Very frequent (99-80%)
13 accelerated skeletal maturation54 Very frequent (99-80%)
14 type ii diabetes mellitus54 Very frequent (99-80%)
15 pituitary prolactin cell adenoma64 54 Frequent (79-30%) HP:0006767
16 proportionate tall stature54 Very frequent (99-80%)
17 pituitary growth hormone cell adenoma64 54 Very frequent (99-80%) HP:0011760
18 premature pubarche54 Very frequent (99-80%)
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
5MP:00053768.0AIP, GNAS, IGF1, IGFBP3, PRL, SST

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 221383150-76-9383414, 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 113979
3Gastrointestinal AgentsPhase 4, Phase 18109
4Antineoplastic Agents, HormonalPhase 4, Phase 15407
5
Dexamethasoneapproved, investigational, vet_approvedPhase 1208450-02-25743
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 112767
7Hormone AntagonistsPhase 112778
8HIV Protease InhibitorsPhase 15319
9Peripheral Nervous System AgentsPhase 122776
10
protease inhibitorsPhase 15320
Synonyms:
 
protease inhibitors
11glucocorticoidsPhase 14920
12Dexamethasone acetatePhase 120841177-87-3
13Autonomic AgentsPhase 19774
14BB 1101Phase 12084
15AntiemeticsPhase 13888
16Dexamethasone 21-phosphatePhase 12084
17Anti-Inflammatory AgentsPhase 110355

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, T cells

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 58)
id Gene Variation Type Significance SNP ID Assembly Location
1GNASNM_000516.5(GNAS): c.601C> T (p.Arg201Cys)SNVPathogenicrs11554273GRCh37Chr 20, 57484420: 57484420
2GNASNM_000516.5(GNAS): c.602G> A (p.Arg201His)SNVPathogenicrs121913495GRCh37Chr 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 pathogenicChr na, -1: -1
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.174G> C (p.Lys58Asn)SNVLikely pathogenicrs267606539GRCh37Chr 11, 67254551: 67254551
11AIPNM_003977.3(AIP): c.241C> T (p.Arg81Ter)SNVPathogenicrs267606541GRCh37Chr 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=)SNVLikely pathogenicrs104895072GRCh37Chr 11, 67254626: 67254626
14AIPNM_003977.3(AIP): c.250G> A (p.Glu84Lys)SNVLikely pathogenicrs267606543GRCh37Chr 11, 67254627: 67254627
15AIPNM_003977.3(AIP): c.280-1G> ASNVLikely 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)SNVLikely pathogenicrs267606546GRCh37Chr 11, 67250631: 67250631
18AIPNM_003977.3(AIP): c.308A> G (p.Lys103Arg)SNVLikely 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)SNVLikely pathogenicrs267606552GRCh37Chr 11, 67256882: 67256882
23AIPNM_003977.3(AIP): c.468+1G> ASNVLikely pathogenicrs267606554GRCh37Chr 11, 67256927: 67256927
24AIPNM_003977.3(AIP): c.469-2A> GSNVLikely pathogenicrs267606556GRCh37Chr 11, 67257507: 67257507
25AIPNM_003977.3(AIP): c.490C> T (p.Gln164Ter)SNVLikely 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)SNVLikely pathogenicrs267606560GRCh37Chr 11, 67257590: 67257590
29AIPNM_003977.3(AIP): c.584T> C (p.Val195Ala)SNVLikely pathogenicrs267606561GRCh37Chr 11, 67257624: 67257624
30AIPNM_003977.3(AIP): c.591G> A (p.Glu197=)SNVLikely pathogenicrs202006716GRCh37Chr 11, 67257631: 67257631
31AIPNM_003977.3(AIP): c.601A> T (p.Lys201Ter)SNVLikely pathogenicrs267606563GRCh37Chr 11, 67257641: 67257641
32AIPNM_003977.3(AIP): c.646G> T (p.Glu216Ter)SNVLikely pathogenicrs267606565GRCh37Chr 11, 67257787: 67257787
33AIPNM_003977.3(AIP): c.649C> T (p.Gln217Ter)SNVLikely 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)SNVLikely pathogenicrs267606568GRCh37Chr 11, 67250699: 67250699
36AIPNM_003977.3(AIP): c.713G> A (p.Cys238Tyr)SNVLikely pathogenicrs267606569GRCh37Chr 11, 67257854: 67257854
37AIPNM_003977.3(AIP): c.715C> T (p.Gln239Ter)SNVLikely pathogenicrs267606571GRCh37Chr 11, 67257856: 67257856
38AIPNM_003977.3(AIP): c.721A> G (p.Lys241Glu)SNVPathogenicrs267606573GRCh37Chr 11, 67257862: 67257862
39AIPNM_003977.3(AIP): c.721A> T (p.Lys241Ter)SNVLikely 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)SNVLikely pathogenicrs267606575GRCh37Chr 11, 67257910: 67257910
43AIPNM_003977.3(AIP): c.803A> G (p.Tyr268Cys)SNVLikely pathogenicrs267606577GRCh37Chr 11, 67258274: 67258274
44AIPNM_003977.3(AIP)duplicationPathogenicrs267606578GRCh37Chr 11, 67258276: 67258296
45AIPNM_003977.3(AIP): c.807C> T (p.Phe269=)SNVPathogenicrs139407567GRCh37Chr 11, 67258278: 67258278
46AIPNM_003977.3(AIP): c.811C> T (p.Arg271Trp)SNVPathogenicrs267606579GRCh37Chr 11, 67258282: 67258282
47AIPNM_003977.3(AIP): c.829G> C (p.Ala277Pro)SNVLikely 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)SNVPathogenicrs104894194GRCh37Chr 11, 67250669: 67250669
51AIPNM_003977.3(AIP): c.469-1G> ASNVLikely pathogenic, Pathogenicrs267606555GRCh37Chr 11, 67257508: 67257508
52AIPNM_003977.3(AIP): c.910C> T (p.Arg304Ter)SNVPathogenicrs104894195GRCh37Chr 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)SNVLikely pathogenic, Pathogenicrs121908356GRCh37Chr 11, 67258275: 67258275
57AIPNM_003977.3(AIP): c.911G> A (p.Arg304Gln)SNVPathogenicrs104894190GRCh37Chr 11, 67258382: 67258382
58AIPNM_003977.3(AIP): c.64C> T (p.Arg22Ter)SNVLikely 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.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

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of osteoblast differentiationGO:004566910.0GNAS, IGF1
2positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.0IGF1, IGFBP3
3regulation of multicellular organism growthGO:00400149.6IGF1, PRL
4response to heatGO:00094089.3IGF1, SST
5cellular protein metabolic processGO:00442679.2IGF1, IGFBP3, PRL

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