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MCID: ISL003

Isolated Growth Hormone Deficiency malady
20 genes, 2 tissues, 104 related diseases, clinical trials.

Summaries for Isolated Growth Hormone Deficiency

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20Genetics Home Reference, 29MalaCards
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Genetics Home Reference:20 Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood.

MalaCards: Isolated Growth Hormone Deficiency, also known as dwarfism, growth hormone deficiency, is related to growth hormone deficiency and isolated growth hormone deficiency type 1b. An important gene associated with Isolated Growth Hormone Deficiency is GHRHR (growth hormone releasing hormone receptor), and among its related pathways are GH:GHR:JAK2 complex undergoes a conformational change and JAK2 phosphorylation. The compounds sulfolipid i and mk-0677 have been mentioned in the context of this disorder. Affiliated tissues include t cells, t cells and pituitary, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Aliases & Classifications for Isolated Growth Hormone Deficiency

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20Genetics Home Reference, 41Novoseek, 56UMLS
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isolated growth hormone deficiency 20
dwarfism, growth hormone deficiency 20
growth hormone deficiency dwarfism 20
isolated somatotropin deficiency 56
dwarfism, pituitary 20
pituitary dwarfism 56
dwarfism pituitary 41



Related Diseases for Isolated Growth Hormone Deficiency

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16GeneCards, 17GeneDecks
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Disease types for isolated growth hormone deficiency type 1a family:

isolated growth hormone deficiency type 1b isolated growth hormone deficiency type 2
isolated growth hormone deficiency type 3 isolated growth hormone deficiency

Diseases related to isolated growth hormone deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 104)
idRelated DiseaseScoreTop Affiliating Genes
1growth hormone deficiency34.7BTK, IGF1, HESX1, GH1, GHRH, GHSR
2isolated growth hormone deficiency type 1b33.8GHRHR, GH1
3dwarfism29.5POU1F1, GHRHR, GHRH, GH1, IGF1
4turner syndrome29.2IGF1
5agammaglobulinemia28.7CD79A, CD40LG, BTK
6short stature28.1POU1F1, GHRHR, GHSR, GHRH, GH1, HESX1
7thyroiditis27.3POMC, CD79A
8liver cirrhosis13.7GHRH
9short bowel syndrome13.6GH1
10gastrinoma13.6GH1
11rabson-mendenhall syndrome13.6IGF1
12optic nerve hypoplasia13.5PAX6
13gigantism13.5IGF1, GH1
14adenocarcinoma13.4POU1F1
15lipoid adrenal hyperplasia13.4POMC
16pituitary gland disease13.4GH1, IGF1
17insulin-like growth factor 1 resistance to13.4GH1, IGF1
18prader-willi syndrome13.4IGF1, GH1
19rheumatic fever13.3POMC
20osteoporosis13.3IGF1, GH1
21primary hyperoxaluria13.3POMC
22idiopathic juvenile osteoporosis13.3GH1, IGF1
23hyperthyroidism13.2IGF1, GH1, GHRH
24growth disorders13.2GHRH, GH1, IGF1
25alcoholism13.2POMC, GHRH
26myocardial infarction13.2CD40LG
27panic disorder13.2POMC, GHRH
28myopathy13.1IGF1, POMC
29pituitary apoplexy13.1POMC
30empty sella syndrome13.1POU1F1, GH1, IGF1
31pertussis13.1CD79A
32hyperinsulinism13.1GH1, IGF1
33septo-optic dysplasia13.1POU1F1, GH1, HESX1
34acth-secreting pituitary adenoma13.1GH1, POMC
35insulinoma13.0GH1, GHRH, GHSR
36cushing's syndrome13.0POMC, GH1
37growth retardation with deafness and mental retardation due to igf1 deficiency13.0IGF1, GH1, GHRH
38amenorrhea13.0POMC, IGF1
39craniopharyngioma13.0POMC, GH1, IGF1
40adrenal gland hyperfunction13.0POMC, GHRH, GH1
41gonadal disease12.9POMC, GH1, IGF1
42hyperprolactinemia12.9POMC, GH1, IGF1
43pyelonephritis12.9CD79A
44infertility12.9GHRH, CD79A
45sheehan syndrome12.9POMC, IGF1
46sinusitis12.9BTK, CD79A
47familial male-limited precocious puberty12.9POMC, GH1, IGF1
48alcohol dependence12.9POMC
49holoprosencephaly12.8LHX4, HESX1, SOX3, POU1F1
50hypoglycemia12.7POMC, GHRH, GH1, IGF1

Graphical network of the top 20 diseases related to isolated growth hormone deficiency:



Diseases related to isolated growth hormone deficiency

Symptoms for Isolated Growth Hormone Deficiency

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Drugs & Therapeutics for Isolated Growth Hormone Deficiency

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5CenterWatch, 38NIH Clinical Center, 6ClinicalTrials, 56UMLS, 37NDF-RT
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Approved drugs:

Search CenterWatch for isolated growth hormone deficiency

Drug clinical trials:

Search ClinicalTrials for isolated growth hormone deficiency

Search NIH Clinical Center for isolated growth hormone deficiency

Search CenterWatch for isolated growth hormone deficiency

Genetic Tests for Isolated Growth Hormone Deficiency

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Anatomical Context for Isolated Growth Hormone Deficiency

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29MalaCards
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MalaCards organs/tissues related to isolated growth hormone deficiency:

29
T cells, Pituitary

Animal Models for Isolated Growth Hormone Deficiency or affiliated genes

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33MGI, 26inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to isolated growth hormone deficiency:

33
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
reproductive system phenotype
MP:00053899.0POU1F1, SOX3, OTX2, PAX6
2
endocrine/exocrine gland phenotype
MP:00053797.1CD40LG, POU1F1, POMC, SOX3, OTX2, GHRHR
3
growth/size phenotype
MP:00053786.6OTX2, SOX3, SLC20A1, POMC, POU1F1, GHRHR
4
mortality/aging
MP:00107686.6POMC, SLC20A1, SOX3, OTX2, HESX1, PAX6
5
nervous system phenotype
MP:00036316.5POU1F1, POMC, SOX3, OTX2, GHRHR, GHRH
6
homeostasis/metabolism phenotype
MP:00053765.5GHRHR, OTX2, SOX3, SLC20A1, POMC, POU1F1

Publications for Isolated Growth Hormone Deficiency

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47PubMed
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Articles related to isolated growth hormone deficiency:

(show all 44)
idTitleAuthorsYearAffiliating Genes
1Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD). (22016154)Desai M.P.... Shalia K.K.2012GH1
2Isolated growth hormone deficiency in two siblings bec ause of paternal mosaicism for a mutation in the GH1 gene. (21933221)Tsubahara M.... Shimizu T.2012GH1
3Genetic polymorphisms in the locus control region and promoter of GH1 are related to serum IGF-I levels and height in patients with isolated growth hormone deficiency and healthy controls. (20190537)de Graaff L.C.... Hokken-Koelega A.C.2010IGF1, GH1
4Identification of two novel chromosome regions associa ted with isolated growth hormone deficiency. (21284329)Cody J.D.... Hale D.2010ITGBL1
5A novel loss-of-function mutation in OTX2 in a patien t with anophthalmia and isolated growth hormone deficiency. (20396904)Ashkenazi-Hoffnung L.... Gat-Yablonski G.2010OTX2, LHX4, HESX1
6Genetics of isolated growth hormone deficiency. (21274339)Mullis P.E.2010IGF1, GH1, GHRH
7Isolated growth hormone deficiency in a patient with immunoglobulin class switch recombination deficiency. (19610268)Kashef S.... Hammarstrom L.2009CD40LG, CD79A
8Recessive isolated growth hormone deficiency and muta tions in the ghrelin receptor. (19789204)Pantel J.... Amselem S.2009GHSR
9A recurrent signal peptide mutation in the growth hor mone releasing hormone receptor with defective translocation to the cell surfac e and isolated growth hormone deficiency. (19622623)Godi M.... Giordano M.2009GHRHR, GHRH
10A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II. (19837935)Hamid R.... Patton J.G.2009GH1
11Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. (18554279)Shariat N.... Patton J.G.2008GH1
12A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency. (18160466)Giordano M.... Momigliano-Richiardi P.2008GH1
13Genetic screening of a Dutch population with isolated growth hormone deficiency. (18785993)de Graaff L.C.... Hokken-Koelega A.C.2008GH1, GHRHR
14Absence of mutations in Pax6 gene in three cases of morning glory syndrome associated with isolated growth hormone deficiency. (19169473)Guerra-Junior G.... Mello M.P.2008PAX6
15Mutant and misfolded human growth hormone is rapidly degraded through the proteasomal degradation pathway in a cellular model for isolated growth hormone deficiency type II. (17927666)Kannenberg K.... Binder G.2007GH1
16Isolated growth hormone deficiency. (17965963)HernA!ndez L.M.... Camacho-HA1bner C.2007GH1
17Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene. (17785368)Hess O.... Tenenbaum-Rakover Y.2007GH1
18A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: a novel missense mutation in the initiation codon and a 7.6kb deletion. (17360216)Hayashi Y.... Seo H.2007GH1
19Foot length before and during insulin-like growth factor-I treatment of children with laron syndrome compared to human growth hormone treatment of children with isolated growth hormone deficiency. (18341092)Silbergeld A.... Laron Z.2007IGF1, GH1
20Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene. (16424673)Fintini D.... Mullis P.E.2006GH1, HESX1
21A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency. (17178704)Fofanova O.V.... Dedov I.I.2006GH1
22GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children. (17073157)Fofanova O.V.... Dedov I.I.2006GH1
23A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency. (16368751)Vivenza D.... Giordano M.2006GH1
24Growth hormone releasing hormone receptor (GHRH-r) gene mutation in Indian children with familial isolated growth hormone deficiency: a study from western India. (16355809)Desai M.P.... Nair S.R.2005GHRHR
25A nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene is the major cause of familial isolated growth hormone deficiency in Western region of India: founder effect suggested by analysis of dinucleotide repeat polymorphism close to GHRHR gene. (15336233)Kamijo T.... Desai M.P.2004GHRHR
26Isolated growth hormone deficiency in Chilean patients: clinical and molecular analysis. (14594175)Molina G.... Carvallo P.2003GH1, GHSR, GHRH
27A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population. (12574219)Fofanova O.V.... Dedov I.I.2003GH1
28Isolated growth hormone deficiency and the GH-1 gene: update 2002. (12435888)Binder G.2002GH1, POU1F1
29New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency. (12510984)Mullis P.E.... Dannies P.S.2002GH1
30An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II. (12000366)Takahashi I.... Takada G.2002GH1
31A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency. (11914025)Katsumata N.... Tanaka T.2001GH1
32Isolated growth hormone deficiency in children and adolescents. (11529396)Argente J.... Skordis N.2001SLC20A1
33Prevalence of GH-1 gene deletion in patients with isolated growth hormone deficiency in Japan. GH Gene Study Group. (10943739)Ogawa M.... Byun Y.J.2000GH1
34Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. (10678654)Leiberman E.... Carmi R.2000GH1
35Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients. (10549303)Kamijo T.... Ogawa M.1999GH1
36Isolated growth hormone deficiency: testing the little mouse hypothesis in man and exclusion of mutations within the extracellular domain of the growth hormone-releasing hormone receptor. (8618801)Cao Y.... Mullis P.E.1995IGF1, GHRHR
37Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype. (7957420)Cacciari E.... Cicognani A.1994GH1, GH2
38Isolated growth hormone deficiency type IA associated with a 45-kilobase gene deletion within the human growth hormone gene cluster in an Italian family. (7877887)Ghizzoni L.... Bernasconi S.1994CSH1, CSHL1
39An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. (8013627)Duriez B.... Goossens M.1994BTK
40Genetic and molecular analysis of familial isolated growth hormone deficiency. (8104861)Ruiz-Pacheco R.... Sultan C.1993GH1
41Detection of growth hormone gene deletions by PCR of the hGH-N gene in isolated growth hormone deficiency. (8268930)Ruiz-Pacheco R.... Sultan C.1993GH1
42Treatment of isolated growth hormone deficiency type IA due to GH-I gene deletion with recombinant human insulin-like growth factor I. (7509217)Nishi Y.... Hasegawa T.1993IGF1
43Familial isolated growth-hormone deficiency with advanced sexual maturation. (8427240)Kauschansky A.... Frydman M.1993POMC
44Isolated growth hormone deficiency: analysis of the g rowth hormone (GH)-releasing hormone gene and the GH gene cluster. (1967179)Mullis P.... Brook C.G.1990GH1

Variations for Isolated Growth Hormone Deficiency

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Expression for genes affiliated with Isolated Growth Hormone Deficiency

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Isolated Growth Hormone Deficiency

Pathways for genes affiliated with Isolated Growth Hormone Deficiency

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50Reactome, 12EMD Millipore, 48QIAGEN, 34NCBI BioSystems Database, 27KEGG
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Pathways related to isolated growth hormone deficiency according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
GH:GHR:JAK2 complex undergoes a conformational change50
Hide members
10.0GH2, GH1
2
JAK2 phosphorylation50
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9.7GH1, GH2, CSH1
3
FBXW7 WD mutants do not bind NICD150
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9.7CSH1, GH2, GH1
4
Transcription factors in neurogenesis12
9.6PAX6, OTX2, SOX3
5
NF-KappaB Family Pathway48
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9.5GHRH, GH2, GH1, IGF1
6
Endochondral Ossification34
9.4IGF1, GH1, CSHL1
7
G-Beta Gamma Signaling48
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9.3POMC, GH2, GH1, BTK
8
CREB Pathway48
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9.3BTK, IGF1, GH1, GH2, GHRH
9
Primary immunodeficiency27
9.3CD79A, CD40LG, BTK
10
PTEN Pathway48
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8.8GHRH, GH2, GH1, IGF1, BTK, CD79A
11
Rho Family GTPases48
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8.7SOX3, GHRH, GH2, GH1, PAX6, IGF1
12
Class A/1 (Rhodopsin-like receptors)50
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8.6POMC, CSH1, GHRHR, GHSR, GHRH, GH2
13
B Cell Receptor Signaling Pathway34
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8.6CD79A, CD79A, CD40LG, BTK, BTK
14
Signaling by GPCR50
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8.4POMC, CSH1, GHRHR, GHSR, GHRH, GH2

Compounds for genes affiliated with Isolated Growth Hormone Deficiency

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41Novoseek, 11DrugBank, 22HMDB, 46PharmGKB, 2BitterDB, 55Tocris Bioscience
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Compounds related to isolated growth hormone deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1sulfolipid i4110.4CD40LG
2mk-06774110.3GHSR, IGF1
3somatuline4110.3GH1, IGF1
4quinagolide4110.3GH1, IGF1
5pyridostigmine41 1111.2GHRH, GH1, IGF1
6acipimox4110.2IGF1, GH1, GHRH
7pegvisomant41 1111.2IGF1, GH1, GHRH
8pirenzepine41 1111.2GHRH, IGF1, GH1
9hcrh4110.1GHSR, POMC
10oxandrolone41 1111.1IGF1, GH1
11cortisone41 2211.0GH1, IGF1, POMC
12lanreotide419.9GHSR, GHRH, IGF1, GH1
13clomiphene citrate419.9GH1, IGF1, CD40LG
14naloxone41 46 1111.9GHRH, POMC, GH1
15dehydroepiandrosterone sulfate419.8GH1, IGF1, POMC
16naltrexone41 46 1111.8POMC, IGF1, GH1, GHRH
17sandoglobulin419.8CD40LG, CD79A
18clonidine41 1110.8POMC, IGF1, GHRH, GH1
19salbutamol41 46 11 2212.8GHRH, CD79A, GH1
20triiodothyronine419.8IGF1, GH1, GHRH, POMC
21ghrp419.8GHRH, GHRHR, IGF1, GH1, GHSR
22hydrocortisone41 2 1111.6IGF1, POMC, GHSR, GH1
23metformin41 46 1111.6POMC, GH1, IGF1
24dhea419.6GH1, POMC, IGF1
25octreotide41 55 1111.5IGF1, GH1, GHRH, GHSR, POMC
26gnrh419.5POMC, GHRH, GH1, HESX1, IGF1
27bromocriptine41 1110.5POU1F1, POMC, GHRH, IGF1, GH1
28valproate419.5CD79A, CD40LG, IGF1
29ivig419.5BTK, CD79A, CD40LG
30hexarelin419.4IGF1, GHRHR, GHSR, GHRH, GH1, POMC
31estradiol41 11 2211.3GHSR, POMC, GHRH, GH1, IGF1
32opiate419.3GHRH, POMC, GH1
33vitamin d419.3IGF1, POU1F1, GHRH, GH1, CD79A
34estrogen419.3GHSR, CD40LG, CD79A, POU1F1
35forskolin41 55 46 1112.2GHRH, GHSR, POMC, GH1, POU1F1, GHRHR
36vitamin b12419.2IGF1, CD79A, CD40LG
37adenylate419.0GHSR, GHRHR, GH1, POMC, CD40LG, GHRH
38acth419.0IGF1, POU1F1, POMC, GHSR, HESX1, GH1
39norepinephrine41 11 2210.9GHRH, GH1, CD79A, CD40LG, POMC
40thyroxine41 229.8CD40LG, IGF1, GH1, GHRH, POMC, CD79A
41ribonucleic acid418.7GH2, POU1F1, POMC, GHRHR, GHSR, GHRH
42steroid418.6POMC, GHSR, GHRH, GH1, IGF1, CD79A
43glucose418.6PAX6, GH1, GHRHR, GHSR, GHRH, IGF1
44vegf418.4CD40LG, IGF1, PAX6, GH1, POMC, CD79A
45alanine418.3CD40LG, PAX6, POMC, CD79A, SOX3, GH1
46testosterone41 11 2210.3CD40LG, IGF1, GH1, CD79A, GHRH, GHSR
47dopamine41 11 2210.2CD40LG, CD79A, IGF1, GH1, GHRH, GHSR
48serine418.2POMC, CD40LG, GHSR, GHRH, BTK, PAX6
49dexamethasone41 46 55 1111.0CD40LG, GH1, GHRH, GHRHR, POMC, POU1F1
50arginine416.6GHRH, GHSR, SLC20A1, POMC, GHRHR, GH1

GO Terms for genes affiliated with Isolated Growth Hormone Deficiency

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15Gene Ontology
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Cellular components related to isolated growth hormone deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055767.7ITGBL1, IGF1, GH1, GH2, GHRH, CSH1

Biological processes related to isolated growth hormone deficiency according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1water homeostasisGO:03010410.2IGF1, GHRHR
2positive regulation of growth hormone secretionGO:06012410.2GHRHR, GHRH
3somatotropin secreting cell developmentGO:06013310.1POU1F1, GHRHR
4growth hormone secretionGO:03025210.0GHRH, GHSR, GHRHR
5response to foodGO:03209410.0GHSR, GHRH
6determination of adult lifespanGO:00834010.0GHRHR, POU1F1
7JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.9GH1, GH2, CSH1
8positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.6IGF1, GH1, GHRH, GHSR, GHRHR
9positive regulation of multicellular organism growthGO:0400189.5POU1F1, GHRHR, GHSR, GHRH, GH1
10B cell proliferationGO:0421009.4CD79A, CD40LG
11B cell differentiationGO:0301839.3CD79A, CD40LG, POU1F1
12organ morphogenesisGO:0098879.3LHX4, PAX6, SOX3

Molecular functions related to isolated growth hormone deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth hormone-releasing hormone receptor activityGO:01652010.0GHSR, GHRHR
2hormone activityGO:0051798.2IGF1, GH1, GH2, CSH1, CSHL1, POMC

Products for genes affiliated with Isolated Growth Hormone Deficiency

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  • Antibodies
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Sources for Isolated Growth Hormone Deficiency

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3CDC
13ExPASy
14FMA
21HGMD
22HMDB
23ICD10
24ICD10 via Orphanet
25ICD9CM
27KEGG
31MeSH
32MESH via Orphanet
33MGI
36NCIt
37NDF-RT
40NINDS
41Novoseek
43OMIM
44OMIM via Orphanet
47PubMed
48QIAGEN
53SNOMED-CT via Orphanet
56UMLS
57UMLS via Orphanet
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