MCID: ISL003
MIFTS: 51

Isolated Growth Hormone Deficiency malady

Endocrine diseases category

Summaries for Isolated Growth Hormone Deficiency

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MalaCards: Isolated Growth Hormone Deficiency, also known as isolated somatotropin 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 Transcription factors in neurogenesis and Peptide hormone metabolism. The compounds mk-0677 and somatuline have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and thyroid, and related mouse phenotypes are taste/olfaction and craniofacial.

Aliases & Classifications for Isolated Growth Hormone Deficiency

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22Genetics Home Reference, 46Novoseek, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine diseases


Aliases & Descriptions:

isolated growth hormone deficiency 22
isolated somatotropin deficiency 22 63
isolated somatotropin deficiency disorder 22
isolated human growth hormone deficiency 22
dwarfism, growth hormone deficiency 22
growth hormone deficiency dwarfism 22
isolated hgh deficiency 22
isolated gh deficiency 22
dwarfism, pituitary 22
dwarfism pituitary 46
pituitary dwarfism 63


Related Diseases for Isolated Growth Hormone Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Isolated Growth Hormone Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1growth hormone deficiency31.7GHR, GHRH, HESX1, POU1F1, SOX3, IGF1
2isolated growth hormone deficiency type 1b31.0GH1, GHRHR
3agammaglobulinemia30.8BTK, CD40LG, CD79A
4short stature30.7IGF1, LHX4, POU1F1, HESX1, GHRHR, GHSR
5hypoglycemia30.7IGF1, GHRH, GH1, GHR
6partial isolated growth hormone deficiency30.6GHR, GHSR
7dwarfism30.5GHRHR, GHRH, IGF1, GHR, POU1F1, GH1
8laron syndrome30.5IGF1, GHR, GH1
9optic nerve hypoplasia30.4PAX6
10acromegaly30.4GH1, IGF1
11septo-optic dysplasia30.4HESX1, GH1, POU1F1
12hyperprolactinemia30.4IGF1, GHRH, GH1
13hypogonadism30.3GH1, POU1F1, IGF1
14anorexia nervosa30.2GH1, GHR, GHRH, IGF1
15pituitary hypoplasia30.2OTX2, GHRHR, GHRH, HESX1, POU1F1, LHX4
16obesity30.2GHSR, HESX1, GHRH, IGF1, GHR, GH1
17panhypopituitarism30.1IGF1, LHX4, GHR, POU1F1, GH1, HESX1
18hypopituitarism30.1GH1, GHR, GHRH, HESX1, POU1F1, SOX3
19mental retardation, x-linked, with isolated growth hormone deficiency10.7
20isolated growth hormone deficiency type 1a10.7
21isolated growth hormone deficiency type 210.6
22isolated growth hormone deficiency type 310.6
23thyroiditis10.3
24isolated growth hormone deficiency, type ib, ghrhr-related10.3
25isolated growth hormone deficiency, type ib, gh1-related10.3
26mental retardation10.3
27isolated growth hormone deficiency due to defect in ghrf10.3
28autosomal dominant chondrodysplasia punctata10.2
29cystic fibrosis10.2
30meningoencephalitis10.2
31fanconi's anemia10.2
32mulibrey nanism10.2
33dermatomyositis10.2
34faces syndrome10.2
35mental retardation, x-linked, with growth hormone deficiency10.2
36agammaglobulinemia and isolated hormone deficiency10.2
37thyroxine-binding globulin deficiency10.2
38anophthalmia/microphthalmia10.1OTX2
39dysentery10.1CD79A
40vipoma10.1GH1, GHRH
41q fever10.1CD79A
42syphilis10.1CD79A
43rabson-mendenhall syndrome10.1IGF1
44macroglobulinemia10.1CD79A
45cryptosporidiosis10.1CD79A
46glucagonoma10.1GH1, GHRH
47cushing's syndrome10.1GHRH
48gigantism10.1GH1, IGF1
49carcinoid syndrome10.1GH1, GHRH, GHSR
50pituitary gland disease10.1GH1, 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Drug clinical trials:

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Genetic Tests for Isolated Growth Hormone Deficiency

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Anatomical Context for Isolated Growth Hormone Deficiency

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34MalaCards
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MalaCards organs/tissues related to Isolated Growth Hormone Deficiency:

34
Pituitary, Bone, Thyroid, Testes, Uterus, Hypothalamus

Animal Models for Isolated Growth Hormone Deficiency or affiliated genes

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38MGI
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Publications for Isolated Growth Hormone Deficiency

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53PubMed
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Articles related to Isolated Growth Hormone Deficiency:

(show top 50)    (show all 175)
idTitleAuthorsYear
1
Children with isolated growth hormone deficiency: Empty sella versus normal sella. (24019611)
2013
2
Molecular genetic studies in Isolated Growth Hormone Deficiency (IGHD). (23436191)
2013
3
Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency. (23565410)
2012
4
Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD). (22016154)
2012
5
Comparison of response to 2-years' growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency: combined results from two large observational studies. (22788856)
2012
6
Is the growth outcome of children with idiopathic short stature and isolated growth hormone deficiency following treatment with growth hormone and a luteinizing hormone-releasing hormone agonist superior to that obtained by GH alone? (23155689)
2012
7
Genetic 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)
2010
8
Genetic causes and treatment of isolated growth hormone deficiency-an update. (20852587)
2010
9
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency. (19622623)
2009
10
Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. (19417035)
2009
11
Characterization of GH-1 mutations in children with isolated growth hormone deficiency in the Turkish population. (20020582)
2009
12
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. (18554279)
2008
13
Isolated growth hormone deficiency: clinical entity? (19020379)
2008
14
Transient, isolated growth hormone deficiency after a BB gunshot wound. (17396434)
2007
15
Mutant 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)
2007
16
Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene. (17785368)
2007
17
Thyroid morphology and function in adults with untreated isolated growth hormone deficiency. (16394080)
2006
18
Adult height in patients treated for isolated growth hormone deficiency: role of birth weight. (15767761)
2005
19
A mouse with targeted ablation of the growth hormone-releasing hormone gene: a new model of isolated growth hormone deficiency. (15155578)
2004
20
Isolated growth hormone deficiency in Chilean patients: clinical and molecular analysis. (14594175)
2003
21
A 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)
2003
22
Familial isolated growth hormone deficiency: genetics and pathophysiology. (12201208)
2002
23
Isolated growth hormone deficiency and the GH-1 gene: update 2002. (12435888)
2002
24
New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency. (12510984)
2002
25
A 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)
2001
26
Isolated growth hormone deficiency in children and adolescents. (11529396)
2001
27
Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. (10678654)
2000
28
Prevalence of GH-1 gene deletion in patients with isolated growth hormone deficiency in Japan. GH Gene Study Group. (10943739)
2000
29
MR findings in hereditary isolated growth hormone deficiency. (9367326)
1997
30
Hexarelin, a growth hormone-releasing peptide, discloses protectant activity against cardiovascular damage in rats with isolated growth hormone deficiency. (9534309)
1997
31
Regulation of postnatal intestinal maturation by growth hormone: studies in rats with isolated growth hormone deficiency. (8798252)
1996
32
Isolated 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)
1995
33
Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype. (7957420)
1994
34
Analysis of human growth hormone gene 5' sequences in isolated growth hormone deficiency patients. (8151648)
1994
35
Detection of growth hormone gene deletions by PCR of the hGH-N gene in isolated growth hormone deficiency. (8268930)
1993
36
Treatment of isolated growth hormone deficiency type IA due to GH-I gene deletion with recombinant human insulin-like growth factor I. (7509217)
1993
37
Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism. (8335020)
1993
38
Hypothalamo-pituitary axis by magnetic resonance imaging in isolated growth hormone deficiency patients born by normal delivery. (1740501)
1992
39
Combined treatment with growth hormone and gonadotropin-releasing hormone analogues in children with isolated growth hormone deficiency. (1449042)
1992
40
The effects of treatment combining an agonist of gonadotropin-releasing hormone with growth hormone in pubertal patients with isolated growth hormone deficiency. (2524948)
1989
41
The catecholamine response to hypoglycemia in children with isolated growth hormone deficiency syndromes and multiple pituitary hormone defects. (3540823)
1986
42
Low plasma norepinephrine responses to acute hypoglycemia in children with isolated growth hormone deficiency. (6384256)
1984
43
Acquired refractoriness to growth hormone in a patient with isolated growth hormone deficiency: growth and plasma somatomedin-C response to high-dose growth hormone therapy. (6539376)
1984
44
Phenotypic heterogeneity in familial isolated growth hormone deficiency type I-A. (6327759)
1984
45
Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia. (6846278)
1983
46
Transient impairment or delay of urinary trihydroxypregnanone (THS) response to metyrapone in boys with delayed adolescence and in patients with isolated growth hormone deficiency. (7058680)
1982
47
Effect of hGH on head circumference and IQ in isolated growth hormone deficiency. (7249999)
1981
48
Familial isolated growth hormone deficiency. (7307312)
1981
49
Aarskog syndrome with isolated growth hormone deficiency. (7227381)
1981
50
Histological and ultrastructural studies in isolated growth hormone deficiency. (4749447)
1973

Variations for Isolated Growth Hormone Deficiency

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Expression for genes affiliated with Isolated Growth Hormone Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Isolated Growth Hormone Deficiency

Search GEO for disease gene expression data for Isolated Growth Hormone Deficiency.

Pathways for genes affiliated with Isolated Growth Hormone Deficiency

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51PathCards, 13EMD Millipore, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN
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Pathways related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7OTX2, PAX6, SOX3
2
Show member pathways
9.5IGF1, GH1, PAX6
3
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
9.4CD40LG, BTK, CD79A
49.4BTK, CD79A, CD40LG
5
Show member pathways
9.4IGF1, GH2, GHRH, GH1
6
Show member pathways
9.4GHRH, IGF1, GH2, GH1
7
Show member pathways
9.4GHRH, GH1, GH2, IGF1
8
Show member pathways
9.4GHRHR, GH2, GH1, BTK, GHRH
99.4GHR, IGF1, GH1
109.2GH1, CSH1, GH2, GHR
11
Show member pathways
Type III interferon signaling39
9.2GH2, CSH1, GH1, GHR
12
Show member pathways
9.2GHR, GH2, GH1, CSH1
13
Show member pathways
9.2CSH1, GH1, GHR, GH2
14
Show member pathways
9.2IGF1, GH2, GH1, BTK, GHRH
15
Show member pathways
9.2IGF1, BTK, GHRH, GH1, GH2
16
Show member pathways
9.2GHRH, IGF1, GH2, GH1, BTK
17
Show member pathways
9.0GHR, BTK, CSH1, GH1, GH2
18
Show member pathways
8.8GH2, GHR, CD40LG, GH1, BTK
198.8IGF1, GHR, GH2, GH1, CSH1
20
Show member pathways
8.8GHRH, GH1, GH2, BTK, CD79A, IGF1
21
Show member pathways
8.8IGF1, GH2, BTK, GH1, CD79A, GHRH
22
Show member pathways
8.7GHRH, IGF1, BTK, GH1, GH2, GHR
23
Show member pathways
8.6SOX3, BTK, GH1, GH2, GHRH, PAX6
24
Show member pathways
8.6GHSR, GHR, GHRHR, GH2, GH1, CSH1
25
Show member pathways
8.5BTK, GH1, IGF1, GH2, CD79A, GHR
26
Show member pathways
8.2GHR, IGF1, GHRH, GHRHR, GH2, CSH1

Compounds for genes affiliated with Isolated Growth Hormone Deficiency

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46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 25HMDB, 62Tocris Bioscience
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Compounds related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1mk-067746 3011.2GHSR, IGF1
2somatuline4610.1GH1, IGF1
3pyridostigmine46 1211.0IGF1, GHRH, GH1
4acipimox46 3011.0IGF1, GH1, GHRH
5pirenzepine46 30 1212.0GHRH, GH1, IGF1
6quinagolide4610.0IGF1, GH1
7naltrexone46 30 52 1213.0GHRH, IGF1, GH1
8salbutamol46 52 30 25 1214.0CD79A, GHRH, GH1
9sulfolipid i4610.0CD40LG, CD79A
10sandoglobulin469.9CD40LG, CD79A
11clomiphene citrate469.8CD40LG, IGF1, GH1
12leuprolide acetate469.7GH1, GHR, IGF1
13cabergoline46 30 1211.7IGF1, GHR, GH1
14forskolin46 52 1211.6GHSR, GHRH, POU1F1, GH1, GHRHR
15dehydroepiandrosterone sulfate469.6GH1, GHR, IGF1
16pegvisomant46 1210.6GH1, IGF1, GHR, GHRH
17clonidine46 52 30 1212.5GH1, IGF1, GHRH, GHR
18ivig469.5CD79A, BTK, CD40LG
19triiodothyronine469.5GHR, GHRH, GH1, IGF1
20levodopa46 1210.5IGF1, GH1, GHR, GHRH
21valproate469.4CD40LG, CD79A, IGF1
22lanreotide46 3010.4GHSR, GHR, IGF1, GHRH, GH1
23octreotide46 62 30 1212.3GHSR, GH1, GHRH, IGF1, GHR
24gnrh469.3IGF1, HESX1, GHRH, GHR, GH1
25dihydrotestosterone46 30 25 1212.3IGF1, GHR, GH1, CD79A
26adenylate469.3GHSR, GHRH, GHRHR, CD40LG, GH1
27c-peptide469.3IGF1, GH1, GHR
28bromocriptine46 30 1211.3IGF1, POU1F1, GHRH, GHR, GH1
29estradiol46 25 1211.2GHR, GH1, GHSR, IGF1, GHRH
30ghrp469.2GHSR, GHRH, GHR, GHRHR, IGF1, GH1
31hexarelin46 3010.2GHRH, IGF1, GHR, GHRHR, GH1, GHSR
32vitamin b12468.9IGF1, CD79A, CD40LG
33vitamin d468.9GH1, CD79A, POU1F1, GHRH, IGF1, GHR
34progesterone46 30 62 25 1212.8IGF1, GHR, GHRH, POU1F1, GH1
35acth468.8IGF1, GHR, GHRH, GH1, HESX1, GHSR
36thyroxine46 259.7GHR, GHRH, GH1, IGF1, CD40LG, CD79A
37creatinine468.7IGF1, GHR, GH1, CD40LG, CD79A
38steroid468.6CD79A, GHSR, GH1, GHR, GHRH, POU1F1
39ribonucleic acid468.6GHR, GH1, GH2, GHRHR, GHRH, POU1F1
40glucose468.5GH1, IGF1, GHSR, GH2, GHRHR, PAX6
41cysteine468.5CD40LG, CD79A, GH1, BTK, GHRHR, GHR
42glutamate468.5CD40LG, POU1F1, PAX6, GHRH, GHR, GHRHR
43alanine468.5CD40LG, POU1F1, GHR, GH1, PAX6, CD79A
44testosterone46 62 25 1211.3CD40LG, IGF1, GHRH, GHR, CD79A, GH2
45serine468.2CD40LG, GHRH, BTK, GHSR, GH1, GHR
46retinoic acid46 259.2POU1F1, GHR, GH1, CD79A, CD40LG, PAX6
47dopamine46 30 25 1211.2GHR, CD79A, GHSR, GH1, GHRH, CD40LG
48estrogen468.2GHRH, GHSR, GH1, GHR, CD40LG, IGF1
49dexamethasone46 52 30 1211.0CD40LG, GHSR, GH1, GHRHR, POU1F1, IGF1
50arginine466.6GHRH, GHSR, GHRHR, GH1, BTK, CD79A

GO Terms for genes affiliated with Isolated Growth Hormone Deficiency

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17Gene Ontology
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Cellular components related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membrane raftGO:0451219.7CD79A, BTK, GHSR
2extracellular regionGO:0055767.2CSHL1, IGF1, ITGBL1, GHRH, GHR, GH2

Biological processes related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of growth hormone secretionGO:06012410.4GHRH, GHRHR
2somatotropin secreting cell developmentGO:06013310.3GHRHR, POU1F1
3cAMP-mediated signalingGO:01993310.3GHRH, GHRHR
4determination of adult lifespanGO:00834010.3POU1F1, GHRHR
5growth hormone secretionGO:03025210.2GHSR, GHRHR, GHRH
6water homeostasisGO:03010410.2GHRHR, IGF1
7cell fate specificationGO:00170810.1POU1F1, OTX2
8growth hormone receptor signaling pathwayGO:06039610.1GHR, GH1
9B cell activationGO:04211310.0CD79A, BTK
10hormone-mediated signaling pathwayGO:00975510.0GHSR, GHR
11pituitary gland developmentGO:0219839.9SOX3, PAX6
12organ morphogenesisGO:0098879.9PAX6, SOX3, LHX4
13response to foodGO:0320949.9GHRH, GHR, GHSR
14cellular response to insulin stimulusGO:0328699.9GHR, GHRHR, GHSR
15positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.9GH1, GHR
16B cell receptor signaling pathwayGO:0508539.9CD79A, BTK
17insulin-like growth factor receptor signaling pathwayGO:0480099.8GHR, IGF1
18positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.7GH1, GHR, IGF1
19positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.7GH1, GHR, IGF1
20JAK-STAT cascadeGO:0072599.7GHR, GH1
21B cell differentiationGO:0301839.7CD40LG, CD79A, POU1F1
22positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.6IGF1, GHRH, GHRHR, GH1, GHSR
23regulation of multicellular organism growthGO:0400149.6IGF1, GHR
24JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.6GHR, GH2, GH1, CSH1
25positive regulation of cell proliferationGO:0082849.6GHRHR, GHRH, POU1F1, IGF1
26B cell proliferationGO:0421009.3CD40LG, CD79A
27positive regulation of transcription, DNA-templatedGO:0458939.3OTX2, PAX6, POU1F1, IGF1
28positive regulation of multicellular organism growthGO:0400189.2GHSR, GH1, GHRHR, GHR, GHRH, POU1F1

Molecular functions related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth hormone-releasing hormone receptor activityGO:01652010.1GHRHR, GHSR
2RNA polymerase II core promoter sequence-specific DNA bindingGO:0009799.9PAX6, SOX3
3growth factor bindingGO:0198389.7GHRHR, GHR
4peptide hormone bindingGO:0170469.6GHSR, GHRHR, GHR
5sequence-specific DNA bindingGO:0435659.0OTX2, HESX1, POU1F1, LHX4
6hormone activityGO:0051798.8CSHL1, CSH1, GH1, GH2, IGF1

Products for genes affiliated with Isolated Growth Hormone Deficiency

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Sources for Isolated Growth Hormone Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet