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MCID: ISL003
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Isolated Growth Hormone Deficiency malady

Endocrine category
21 genes, 6 tissues, 130 related diseases, clinical trials.

Summaries for Isolated Growth Hormone Deficiency

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21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 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 isolated somatotropin deficiency, is related to growth hormone deficiency and short stature. An important gene associated with Isolated Growth Hormone Deficiency is GHRHR (growth hormone releasing hormone receptor), and among its related pathways are Primary immunodeficiency and Prolactin receptor signaling. The compounds estrogen and pirenzepine have been mentioned in the context of this disorder. Affiliated tissues include small intestine, thyroid and uterus, and related mouse phenotypes are adipose tissue and reproductive system.

Aliases & Classifications for Isolated Growth Hormone Deficiency

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21Genetics Home Reference, 45Novoseek, 61UMLS
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Classifications:

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


Aliases & Descriptions:

isolated growth hormone deficiency 21
isolated somatotropin deficiency 21 61
isolated somatotropin deficiency disorder 21
isolated human growth hormone deficiency 21
dwarfism, growth hormone deficiency 21
growth hormone deficiency dwarfism 21
isolated hgh deficiency 21
isolated gh deficiency 21
dwarfism, pituitary 21
dwarfism pituitary 45
pituitary dwarfism 61


Related Diseases for Isolated Growth Hormone Deficiency

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17GeneCards, 18GeneDecks
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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 130)
idRelated DiseaseScoreTop Affiliating Genes
1growth hormone deficiency31.9IGF1, BTK, GH1, POU1F1, POMC, GHRH
2short stature30.9GHRHR, POU1F1, GH1, LHX4, HESX1, GHRH
3isolated growth hormone deficiency type 1b30.8GHRHR, GH1
4hypoglycemia30.6IGF1, GH1, GHRH, POMC
5agammaglobulinemia30.6CD40LG, BTK, CD79A
6dwarfism30.6GHRH, GHRHR, IGF1, POU1F1, GH1
7mental retardation30.4PAX6, SOX3
8laron syndrome30.4GH1, IGF1
9optic nerve hypoplasia30.2PAX6
10septo-optic dysplasia30.2HESX1, POU1F1, GH1
11immunoglobulin g deficiency30.2CD40LG, CD79A
12hyperprolactinemia30.2IGF1, GH1, GHRH, POMC
13anorexia nervosa30.2GHRH, GH1, IGF1, POMC
14acromegaly30.2GHRHR, POMC, GHRH, GHSR, GH1, IGF1
15pituitary hypoplasia30.2OTX2, POU1F1, GHRH, LHX4, HESX1, SOX3
16panhypopituitarism30.2IGF1, LHX4, POU1F1, POMC, GH1, HESX1
17turner syndrome29.9IGF1
18diabetes insipidus29.9POMC, GHRH
19amenorrhea29.9IGF1, POMC
20mental retardation, x-linked, with isolated growth hormone deficiency10.7
21isolated growth hormone deficiency type 210.6
22isolated growth hormone deficiency type 310.5
23isolated gonadotropin-releasing hormone deficiency10.5
24isolated growth hormone deficiency type 1a10.5
25partial isolated growth hormone deficiency10.4
26t cell deficiency10.3
27isolated growth hormone deficiency, type ib, ghrhr-related10.3
28isolated growth hormone deficiency, type ib, gh1-related10.3
29isolated growth hormone deficiency due to defect in ghrf10.3
30autosomal dominant chondrodysplasia punctata10.2
31protein s deficiency10.2
32protein c deficiency10.2
33protein r deficiency10.2
34deficiency anemia10.2
35cystic fibrosis10.2
36mulibrey nanism10.2
37meningoencephalitis10.2
38follicle-stimulating hormone deficiency, isolated10.2
39mental retardation, x-linked, with growth hormone deficiency10.2
40combined pituitary hormone deficiency10.2
41mental retardation, x-linked10.2
42agammaglobulinemia and isolated hormone deficiency10.2
43thyroxine-binding globulin deficiency10.2
44acute leukemia10.1
45moebius syndrome10.1
46pituitary dwarfism with large sella turcica10.1
47short bowel syndrome10.0GH1
48gastrinoma10.0GH1
49liver cirrhosis10.0GHRH
50myxedema10.0

Graphical network of the top 20 diseases related to Isolated Growth Hormone Deficiency:



Diseases related to isolated growth hormone deficiency

Clinical Features for Isolated Growth Hormone Deficiency

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Drugs & Therapeutics for Isolated Growth Hormone Deficiency

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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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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33MalaCards
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MalaCards organs/tissues related to Isolated Growth Hormone Deficiency:

33
Small intestine, Thyroid, Uterus, T cells, Hypothalamus, Pituitary

Animal Models for Isolated Growth Hormone Deficiency or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Isolated Growth Hormone Deficiency:

37 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
adipose tissue phenotype
MP:00053759.2POMC, IGF1, GH1, GHSR, GHRHR
2
reproductive system phenotype
MP:00053898.2SOX3, GHRHR, GHRH, GH1, IGF1, POU1F1
3
skeleton phenotype
MP:00053908.0GHSR, PAX6, SLC20A1, CD40LG, IGF1, GHRHR
4
integument phenotype
MP:00107717.7SLC20A1, PAX6, CD40LG, BTK, POMC, IGF1
5
endocrine/exocrine gland phenotype
MP:00053797.4GHRHR, IGF1, SOX3, LHX4, PAX6, CD40LG
6
growth/size phenotype
MP:00053787.3IGF1, GH1, POU1F1, POMC, BTK, SLC20A1
7
immune system phenotype
MP:00053877.2PAX6, SLC20A1, CD79A, CD40LG, BTK, POMC
8
cellular phenotype
MP:00053847.1CD79A, SLC20A1, OTX2, PAX6, CD40LG, BTK
9
mortality/aging
MP:00107687.0CD40LG, SLC20A1, IGF1, OTX2, PAX6, BTK
10
nervous system phenotype
MP:00036316.9GHRHR, GHRH, GH1, CD40LG, POU1F1, POMC
11
homeostasis/metabolism phenotype
MP:00053766.1POU1F1, IGF1, GH1, GHRH, POMC, BTK

Publications for Isolated Growth Hormone Deficiency

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51PubMed
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Articles related to Isolated Growth Hormone Deficiency:

(show top 50)    (show all 196)
idTitleAuthorsYear
1
Children with isolated growth hormone deficiency: Empty sella versus normal sella. (24019611)
2013
2
Reappraisal of serum insulin-like growth factor-I (IGF-1) measurement in the detection of isolated and combined growth hormone deficiency (GHD) during the transition period. (24402016)
2013
3
Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency. (23602557)
2013
4
Insulin sensitivity and I^-cell function in adults with lifetime, untreated isolated growth hormone deficiency. (22170707)
2012
5
Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene. (21933221)
2012
6
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
7
Identification of two novel chromosome regions associated with isolated growth hormone deficiency. (21284329)
2010
8
Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations. (20351314)
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
A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II. (19837935)
2009
11
Isolated growth hormone deficiency: clinical entity? (19020379)
2008
12
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency. (18160466)
2008
13
X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update. (18180883)
2008
14
Absence of mutations in Pax6 gene in three cases of morning glory syndrome associated with isolated growth hormone deficiency. (19169473)
2008
15
Myofibroblastic tumor of the lower lip in a patient with X-linked hypogammaglobulinemia and isolated growth hormone deficiency: a case report. (17517309)
2007
16
Isolated growth hormone deficiency. (17965963)
2007
17
Foot 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)
2007
18
GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children. (17073157)
2006
19
Adult height in patients treated for isolated growth hormone deficiency: role of birth weight. (15767761)
2005
20
Dental management of isolated growth hormone deficiency: a case report. (15926446)
2005
21
Growth or somatotrophic hormone: new perspectives in isolated GH deficiency after description of the mutation in the GHRH receptor gene in individuals of Itabaianinha County, Brazil]. (15640904)
2004
22
Isolated growth hormone deficiency in Chilean patients: clinical and molecular analysis. (14594175)
2003
23
Adult height after long term treatment with recombinant growth hormone for idiopathic isolated growth hormone deficiency: observational follow up study of the French population based registry. (12114235)
2002
24
Isolated growth hormone deficiency in children and adolescents. (11529396)
2001
25
Localized lipoatrophy due to recombinant growth hormone therapy in a child with 6.7 kilobase gene deletion isolated growth hormone deficiency. (10392355)
1999
26
X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family. (9508246)
1998
27
MR findings in hereditary isolated growth hormone deficiency. (9367326)
1997
28
Two brothers with a 7.0 kb gene deletion associated with isolated growth hormone deficiency type 1A. (8887154)
1996
29
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
30
Isolated adrenocorticotropic hormone deficiency associated with growth hormone deficiency and empty sella. (7496087)
1995
31
Isolated combined growth hormone and gonadotrophin deficiency due to hypothalamic dysfunction, associated with insulin resistance. (7554320)
1995
32
An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. (8013627)
1994
33
Treatment of isolated growth hormone deficiency type IA due to GH-I gene deletion with recombinant human insulin-like growth factor I. (7509217)
1993
34
Isolated growth hormone (GH) deficiency type IA associated with a 45-kilobase gene deletion within the human GH gene cluster. (1322425)
1992
35
X-linked agammaglobulinemia and isolated growth hormone deficiency. (1872183)
1991
36
Long-lasting catch-up growth under bio-methionyl growth hormone treatment in an infant with isolated growth hormone deficiency type 1A. (1686134)
1991
37
Screening for growth hormone gene deletions in patients with isolated growth hormone deficiency. (1993953)
1991
38
Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity. (2299506)
1990
39
Isolated growth hormone deficiency: analysis of the growth hormone (GH)-releasing hormone gene and the GH gene cluster. (1967179)
1990
40
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
41
Isolated growth hormone deficiency type 1A in a Japanese family. (6539375)
1984
42
Isolated growth hormone deficiency: immunocytochemistry. (6384257)
1984
43
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
44
Effect of hGH on head circumference and IQ in isolated growth hormone deficiency. (7249999)
1981
45
X-linked hypogammaglobulinemia and isolated growth hormone deficiency. (7189577)
1980
46
A note on the bone age at which patients with true isolated growth hormone deficiency enter puberty. (170299)
1975
47
Isolated growth hormone deficiency. (5023637)
1972
48
Isolated growth hormone deficiency: studies in pregnancy. (5424657)
1970
49
Typical cases of isolated growth hormone deficiency with autosomal recessive inheritance. (5468283)
1970
50
Growth and growth hormone. II. A comparison of isolated growth-hormone deficiency and multiple pituitary-hormone deficiencies in 35 patients with idiopathic hypopituitary dwarfism. (4169047)
1968

Genetic Variations for Isolated Growth Hormone Deficiency

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Expression for genes affiliated with Isolated Growth Hormone Deficiency

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1BioGPS, 15Gene 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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30KEGG, 54Reactome, 12EMD Millipore, 52QIAGEN, 38NCBI BioSystems Database
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Pathways related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Primary immunodeficiency30
9.8BTK, CD79A
2
Prolactin receptor signaling54
Hide members
9.8CSH1, GH2, GH1
3
Transcription factors in neurogenesis12
9.7PAX6, OTX2, SOX3
4
NF-KappaB Family Pathway52
Hide members
9.5GHRH, GH2, GH1, IGF1
5
TGF-Beta Pathway52
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9.3GHRH, GH2, GH1, IGF1, BTK
6
Akt Signaling52
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9.3GH2, GH1, IGF1, BTK, GHRH
7
PAK Pathway52
Hide members
9.3GHRH, GH2, GH1, IGF1, BTK
8
G-Beta Gamma Signaling52
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9.0BTK, POMC, GH1, GH2, GHRH, GHRHR
9
ErbB4 Pathway52
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9.0CD79A, BTK, IGF1, GH1, GH2
10
GPCR Pathway52
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8.8GHRH, GH2, GH1, IGF1, BTK, CD79A
11
CREB Pathway52
Hide members
8.8GHRH, GH2, GH1, IGF1, BTK, CD79A
12
PTEN Pathway52
Hide members
8.8GHRH, GH2, GH1, IGF1, BTK, CD79A
13
Class A/1 (Rhodopsin-like receptors)54
Hide members
8.8CSH1, GHRHR, GHSR, GHRH, GH2, GH1
14
Rho Family GTPases52
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8.7SOX3, GHRH, GH2, GH1, IGF1, BTK
15
Immune System54
Hide members
8.7CSH1, GH2, GH1, BTK, CD40LG, CD79A
16
Signaling by GPCR54
Hide members
8.4CSH1, GHRHR, GHSR, GHRH, GH2, GH1

Compounds for genes affiliated with Isolated Growth Hormone Deficiency

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45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 2BitterDB, 60Tocris Bioscience
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Compounds related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1estrogen4510.4CD79A
2pirenzepine45 29 1112.4GHRH, GH1
3mk-067745 2911.3GHSR, IGF1
4somatuline4510.2GH1, IGF1
5hcrh4510.2GHSR, POMC
6norepinephrine45 11 2412.2POMC, GHRH
7quinagolide4510.2IGF1, GH1
8pyridostigmine45 1111.1GHRH, GH1, IGF1
9pegvisomant45 1111.1IGF1, GHRH, GH1
10acipimox45 2911.1GH1, IGF1, GHRH
11dehydroepiandrosterone sulfate4510.1POMC, GH1
12bromocriptine29 45 1112.0POU1F1, POMC, GHRH
13sulfolipid i4510.0CD79A, CD40LG
14oxandrolone45 1110.9IGF1, GH1
15lanreotide45 2910.9GHRH, GHSR, GH1, IGF1
16cortisone45 2410.9POMC, GH1, IGF1
17sandoglobulin459.9CD40LG, CD79A
18clomiphene citrate459.9IGF1, CD40LG, GH1
19naloxone45 50 29 1112.9GHRH, GH1, POMC
20salbutamol45 50 29 11 2413.9CD79A, GHRH, GH1
21ghrp459.8GH1, GHSR, GHRHR, IGF1, GHRH
22naltrexone45 50 29 1112.8GH1, POMC, GHRH, IGF1
23clonidine45 29 1111.8GHRH, POMC, IGF1, GH1
24triiodothyronine459.7GH1, IGF1, GHRH, POMC
25hydrocortisone45 2 60 1112.7GHSR, IGF1, GH1, POMC
26forskolin45 50 1111.6POMC, POU1F1, GHRH, GHSR, GHRHR
27octreotide45 60 29 1112.6POMC, IGF1, GH1, GHRH, GHSR
28ivig459.5BTK, CD40LG, CD79A
29gnrh459.5HESX1, GHRH, IGF1, GH1, POMC
30valproate459.5IGF1, CD40LG, CD79A
31metformin45 50 1111.5GH1, IGF1, POMC
32hexarelin45 2910.4GH1, GHRH, GHSR, GHRHR, IGF1, POMC
33estradiol45 11 2411.4POMC, IGF1, GH1, GHRH, GHSR
34vitamin d459.3GHRH, IGF1, POU1F1, CD79A, GH1
35adenylate459.2CD40LG, GH1, GHRH, GHSR, GHRHR, POMC
36acth459.1POMC, GHRH, GHSR, HESX1, GH1, IGF1
37vitamin b12459.0CD79A, CD40LG, IGF1
38thyroxine45 249.9GHRH, CD40LG, GH1, IGF1, POMC, CD79A
39ribonucleic acid458.9GHRHR, GHSR, GHRH, GH2, IGF1, POU1F1
40steroid458.8GHSR, GHRH, GH1, POU1F1, POMC, CD79A
41glucose458.8GHRHR, POMC, PAX6, IGF1, GH1, GH2
42creatinine458.7CD79A, CD40LG, POMC, IGF1, GH1
43glutamate458.7POU1F1, GHRH, GHRHR, CD40LG, CD79A, PAX6
44alanine458.6PAX6, CD79A, POMC, GH1, SOX3, CD40LG
45vegf458.5CD40LG, PAX6, CD79A, POMC, IGF1, GH1
46serine458.4GH1, IGF1, POMC, BTK, PAX6, GHRH
47testosterone45 60 11 2411.4CD40LG, CD79A, IGF1, GH1, POMC, GHSR
48dopamine45 29 11 2411.4POU1F1, IGF1, POMC, GHRH, CD40LG, GH1
49dexamethasone45 50 29 1111.3POMC, POU1F1, CD40LG, CD79A, GH1, GHRH
50arginine457.1GHRH, GHRHR, GHSR, GH1, IGF1, POU1F1

GO Terms for genes affiliated with Isolated Growth Hormone Deficiency

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16Gene Ontology
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Cellular components related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055767.5POMC, IGF1, GH1, GH2, GHRH, ITGBL1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1somatotropin secreting cell developmentGO:06013310.3POU1F1, GHRHR
2positive regulation of growth hormone secretionGO:06012410.2GHRH, GHRHR
3response to foodGO:03209410.2GHRH, GHSR
4water homeostasisGO:03010410.2GHRHR, IGF1
5growth hormone secretionGO:03025210.1GHRH, GHSR, GHRHR
6determination of adult lifespanGO:00834010.0POU1F1, GHRHR
7JAK-STAT cascade involved in growth hormone signaling pathwayGO:06039710.0CSH1, GH2, GH1
8positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.9IGF1, GH1
9organ morphogenesisGO:0098879.7LHX4, SOX3, PAX6
10positive regulation of multicellular organism growthGO:0400189.7GHRHR, GHSR, GHRH, GH1, POU1F1
11cell fate specificationGO:0017089.7OTX2, POU1F1
12positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.6IGF1, GH1, GHRH, GHSR, GHRHR
13B cell differentiationGO:0301839.5CD79A, CD40LG, POU1F1
14B cell proliferationGO:0421009.5CD79A, CD40LG

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

idNameGO IDScoreTop Affiliating Genes
1growth hormone-releasing hormone receptor activityGO:01652010.1GHSR, GHRHR
2hormone activityGO:0051798.2POMC, IGF1, GH1, GH2, CSH1, CSHL1

Products for genes affiliated with Isolated Growth Hormone Deficiency

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Sources for Isolated Growth Hormone Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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