Isolated Growth Hormone Deficiency disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Isolated Growth Hormone Deficiency

Sources:
²²Genetics Home Reference, ³²MalaCards
See all sources

Genetics Home Reference:²² 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 based summary: Isolated Growth Hormone Deficiency, also known as isolated somatotropin deficiency disorder, is related to isolated growth hormone deficiency type 1b and optic nerve hypoplasia. 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

Sources:
²²Genetics Home Reference, ⁶¹UMLS, ⁴⁴Novoseek
See all sources

Isolated Growth Hormone Deficiency, Aliases & Descriptions:

Name: Isolated Growth Hormone Deficiency ²² ⁶¹

Isolated Somatotropin Deficiency Disorder ²² ⁶¹

Isolated Human Growth Hormone Deficiency ²² ⁶¹

Growth Hormone Deficiency Dwarfism ²² ⁶¹

Isolated Somatotropin Deficiency ²² ⁶¹

Isolated Hgh Deficiency ²² ⁶¹

Isolated Gh Deficiency ²² ⁶¹

Dwarfism, Growth Hormone Deficiency ²²

Dwarfism, Pituitary ²²

Dwarfism Pituitary ⁴⁴

Pituitary Dwarfism ⁶¹

Classifications:

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

Related Diseases for Isolated Growth Hormone Deficiency

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

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

(show top 50) (show all 107)

id	Related Disease	Score	Top Affiliating Genes
1	isolated growth hormone deficiency type 1b	31.6	GH1, GHRHR
2	optic nerve hypoplasia	31.0	PAX6
3	growth hormone deficiency	30.9	GHR, GHRH, HESX1, POU1F1, SOX3, IGF1
4	agammaglobulinemia	30.9	BTK, CD40LG, CD79A
5	acromegaly	30.8	GH1, IGF1
6	septo-optic dysplasia	30.8	HESX1, GH1, POU1F1
7	hyperprolactinemia	30.7	IGF1, GHRH, GH1
8	hypoglycemia	30.6	IGF1, GHRH, GH1, GHR
9	hypogonadism	30.5	GH1, POU1F1, IGF1
10	laron syndrome	30.5	IGF1, GHR, GH1
11	anorexia nervosa	30.2	GH1, GHR, GHRH, IGF1
12	dwarfism	30.2	GHRHR, GHRH, IGF1, GHR, POU1F1, GH1
13	pituitary hypoplasia	30.1	OTX2, GHRHR, GHRH, HESX1, POU1F1, LHX4
14	short stature	30.0	IGF1, LHX4, POU1F1, HESX1, GHRHR, GHSR
15	obesity	29.9	GHSR, HESX1, GHRH, IGF1, GHR, GH1
16	panhypopituitarism	29.7	IGF1, LHX4, GHR, POU1F1, GH1, HESX1
17	hypopituitarism	29.4	GH1, GHR, GHRH, HESX1, POU1F1, SOX3
18	isolated growth hormone deficiency type 2	10.7
19	isolated growth hormone deficiency type 1a	10.7
20	mental retardation, x-linked, with isolated growth hormone deficiency	10.6
21	isolated growth hormone deficiency type 3	10.6
22	anophthalmia/microphthalmia	10.5	OTX2
23	dysentery	10.4	CD79A
24	vipoma	10.4	GH1, GHRH
25	q fever	10.4	CD79A
26	syphilis	10.4	CD79A
27	rabson-mendenhall syndrome	10.4	IGF1
28	macroglobulinemia	10.4	CD79A
29	cryptosporidiosis	10.4	CD79A
30	cushing's syndrome	10.4	GHRH
31	glucagonoma	10.4	GH1, GHRH
32	gigantism	10.4	GH1, IGF1
33	carcinoid syndrome	10.4	GH1, GHRH, GHSR
34	pituitary gland disease	10.3	GH1, IGF1
35	thyroiditis	10.3
36	isolated growth hormone deficiency, type ib, ghrhr-related	10.3
37	partial isolated growth hormone deficiency	10.3
38	isolated growth hormone deficiency, type ib, gh1-related	10.3
39	mental retardation	10.3
40	isolated growth hormone deficiency due to defect in ghrf	10.3
41	insulin-like growth factor 1 resistance to	10.3	GH1, IGF1
42	gonadal disease	10.3	IGF1, GH1
43	idiopathic juvenile osteoporosis	10.3	IGF1, GH1
44	acth deficiency	10.3	POU1F1, HESX1, GH1
45	wermer syndrome	10.3	GHRH, GHRHR
46	anophthalmia plus syndrome	10.3	PAX6, OTX2, HESX1
47	craniopharyngioma	10.3	IGF1, GH1
48	prader-willi syndrome	10.2	GHSR, GH1, IGF1
49	polycystic ovary syndrome	10.2	GHRH, GH1, IGF1
50	empty sella syndrome	10.2	POU1F1, IGF1, GH1

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

Symptoms for Isolated Growth Hormone Deficiency

Drugs & Therapeutics for Isolated Growth Hormone Deficiency

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Isolated Growth Hormone Deficiency

Search NIH Clinical Center for Isolated Growth Hormone Deficiency

Genetic Tests for Isolated Growth Hormone Deficiency

Anatomical Context for Isolated Growth Hormone Deficiency

Sources:
³²MalaCards
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MalaCards organs/tissues related to Isolated Growth Hormone Deficiency:

³²

Pituitary, Bone, Thyroid, Testes, Uterus, Hypothalamus

Animal Models for Isolated Growth Hormone Deficiency or affiliated genes

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Isolated Growth Hormone Deficiency:

³⁶ (show all 15)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	taste/olfaction phenotype	MP:0005394	9.5	OTX2, HESX1, PAX6
2	craniofacial phenotype	MP:0005382	9.1	OTX2, HESX1, PAX6, POU1F1, SOX3
3	hearing/vestibular/ear phenotype	MP:0005377	9.0	IGF1, POU1F1, PAX6, HESX1, OTX2
4	adipose tissue phenotype	MP:0005375	8.9	IGF1, GHR, GHRHR, GH1, GHSR
5	embryogenesis phenotype	MP:0005380	7.8	SOX3, PAX6, HESX1, GHR, SLC20A1, OTX2
6	integument phenotype	MP:0010771	7.6	IGF1, PAX6, GHR, GHRHR, BTK, CD40LG
7	reproductive system phenotype	MP:0005389	7.6	IGF1, SOX3, POU1F1, PAX6, GHRH, GHR
8	skeleton phenotype	MP:0005390	7.4	IGF1, PAX6, GHR, GHRHR, GHSR, CD40LG
9	cellular phenotype	MP:0005384	7.2	IGF1, LHX4, SOX3, PAX6, BTK, CD79A
10	endocrine/exocrine gland phenotype	MP:0005379	7.1	OTX2, IGF1, LHX4, SOX3, POU1F1, PAX6
11	immune system phenotype	MP:0005387	6.8	IGF1, POU1F1, PAX6, GHRH, GHR, GHRHR
12	growth/size/body phenotype	MP:0005378	6.8	GHRH, PAX6, POU1F1, SOX3, IGF1, GHR
13	nervous system phenotype	MP:0003631	6.7	IGF1, LHX4, SOX3, POU1F1, PAX6, HESX1
14	mortality/aging	MP:0010768	6.5	IGF1, LHX4, SOX3, POU1F1, PAX6, HESX1
15	homeostasis/metabolism phenotype	MP:0005376	5.7	GHRH, PAX6, POU1F1, SOX3, LHX4, IGF1

Publications for Isolated Growth Hormone Deficiency

Sources:
⁵¹PubMed
See all sources

Articles related to Isolated Growth Hormone Deficiency:

(show top 50) (show all 183)

id	Title	Authors	Year
1	Decreased retinal nerve fiber layer thickness in patients with congenital isolated growth hormone deficiency. (24803154)	Nalcacioglu-Yuksekkaya P.... Aycan Z.	2014
2	Familial Isolated Growth Hormone Deficiency Due to A Novel Homozygous Missense Mutation in the Growth Hormone Releasing Hormone Receptor Gene: Clinical Presentation with Hypoglycaemia. (25226297)	Demirbilek H.... Hussain K.	2014
3	Children with isolated growth hormone deficiency: Empty sella versus normal sella. (24019611)	Ismail N.A.... Farid T.M.	2013
4	Molecular genetic studies in Isolated Growth Hormone Deficiency (IGHD). (23436191)	Desai M.P.... Vijaykumar M.	2013
5	Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency. (23565410)	Birla S.... Jain V.	2012
6	Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD). (22016154)	Desai M.P.... Shalia K.K.	2012
7	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)	Lee P.A.... Christesen H.T.	2012
8	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)	Colmenares A.... Lanes R.	2012
9	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)	de Graaff L.C.... Hokken-Koelega A.C.	2010
10	Genetic causes and treatment of isolated growth hormone deficiency-an update. (20852587)	Alatzoglou K.S.... Dattani M.T.	2010
11	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)	Godi M.... Giordano M.	2009
12	Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. (19417035)	Mohamadi A.... Salvatori R.	2009
13	Characterization of GH-1 mutations in children with isolated growth hormone deficiency in the Turkish population. (20020582)	Coker A.... Arman A.	2009
14	Isolated 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.	2008
15	Isolated growth hormone deficiency: clinical entity? (19020379)	Bianchi A.... De Marinis L.	2008
16	Transient, isolated growth hormone deficiency after a BB gunshot wound. (17396434)	Boulware S.D.	2007
17	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)	Kannenberg K.... Binder G.	2007
18	Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene. (17785368)	Hess O.... Tenenbaum-Rakover Y.	2007
19	Adult height in patients treated for isolated growth hormone deficiency: role of birth weight. (15767761)	Di Cesare Merlone A.... Bozzola M.	2005
20	A mouse with targeted ablation of the growth hormone-releasing hormone gene: a new model of isolated growth hormone deficiency. (15155578)	Alba M.... Salvatori R.	2004
21	Isolated growth hormone deficiency in Chilean patients: clinical and molecular analysis. (14594175)	Molina G.... Carvallo P.	2003
22	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)	Fofanova O.V.... Dedov I.I.	2003
23	Familial isolated growth hormone deficiency: genetics and pathophysiology. (12201208)	Hayashi Y.... Seo H.	2002
24	Isolated growth hormone deficiency and the GH-1 gene: update 2002. (12435888)	Binder G.	2002
25	New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency. (12510984)	Mullis P.E.... Dannies P.S.	2002
26	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)	Katsumata N.... Tanaka T.	2001
27	Isolated growth hormone deficiency in children and adolescents. (11529396)	Argente J.... Skordis N.	2001
28	Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. (10678654)	Leiberman E.... Carmi R.	2000
29	Prevalence of GH-1 gene deletion in patients with isolated growth hormone deficiency in Japan. GH Gene Study Group. (10943739)	Ogawa M.... Byun Y.J.	2000
30	MR findings in hereditary isolated growth hormone deficiency. (9367326)	Kornreich L.... Pertzelan A.	1997
31	Hexarelin, a growth hormone-releasing peptide, discloses protectant activity against cardiovascular damage in rats with isolated growth hormone deficiency. (9534309)	De Gennaro Colonna V.... Berti F.	1997
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)	Cao Y.... Mullis P.E.	1995
33	Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype. (7957420)	Cacciari E.... Cicognani A.	1994
34	Analysis of human growth hormone gene 5' sequences in isolated growth hormone deficiency patients. (8151648)	Wang Y.... Chen S.S.	1994
35	Detection of growth hormone gene deletions by PCR of the hGH-N gene in isolated growth hormone deficiency. (8268930)	Ruiz-Pacheco R.... Sultan C.	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)	Nishi Y.... Hasegawa T.	1993
37	Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism. (8335020)	Haraldsson A.... Stoelinga G.B.	1993
38	Hypothalamo-pituitary axis by magnetic resonance imaging in isolated growth hormone deficiency patients born by normal delivery. (1740501)	Marwaha R.... Sapra M.L.	1992
39	Combined treatment with growth hormone and gonadotropin-releasing hormone analogues in children with isolated growth hormone deficiency. (1449042)	Saggese G.... Carlotti C.	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)	Toublanc J.E.... Job J.C.	1989
41	The catecholamine response to hypoglycemia in children with isolated growth hormone deficiency syndromes and multiple pituitary hormone defects. (3540823)	Chalew S.A.... Kowarski A.A.	1986
42	Low plasma norepinephrine responses to acute hypoglycemia in children with isolated growth hormone deficiency. (6384256)	Voorhess M.L.... MacGillivray M.H.	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)	Winterer J.... Loriaux D.L.	1984
44	Phenotypic heterogeneity in familial isolated growth hormone deficiency type I-A. (6327759)	Rivarola M.A.... Hjelle B.J.	1984
45	Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia. (6846278)	Stewart C.... Collipp P.J.	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)	Zachmann M.... Prader A.	1982
47	Effect of hGH on head circumference and IQ in isolated growth hormone deficiency. (7249999)	Laron Z.... Galatzer A.	1981
48	Familial isolated growth hormone deficiency. (7307312)	van Gelderen H.H.... van der Hoog C.E.	1981
49	Aarskog syndrome with isolated growth hormone deficiency. (7227381)	Kodama M.... Matsuda I.	1981
50	Histological and ultrastructural studies in isolated growth hormone deficiency. (4749447)	Rimoin D.L.... Schechter J.E.	1973

Genes related to Isolated Growth Hormone Deficiency

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals
See all sources

Genes related to Isolated Growth Hormone Deficiency:

(show all 20)

- Elite gene

id	Symbol	Description	Score	Implication
1	GHRHR	growth hormone releasing hormone receptor	20.64	GeneCards inferred via : Publications, Summaries (show sections)
2	GH1	growth hormone 1	19.59	GeneCards inferred via : Publications (show sections)
3	SOX3	SRY (sex determining region Y)-box 3	18.58	GeneCards inferred via : Disorders (show sections)
4	GHRH	growth hormone releasing hormone	17.56	GeneCards inferred via : Publications (show sections)
5	GHSR	growth hormone secretagogue receptor	16.56	GeneCards inferred via : Publications (show sections)
6	BTK	Bruton agammaglobulinemia tyrosine kinase	15.56	GeneCards inferred via : Disorders, Publications (show sections)
7	HESX1	HESX homeobox 1	14.54	GeneCards inferred via : Publications (show sections)
8	GH2	growth hormone 2	13.54	GeneCards inferred via : Publications (show sections)
9	OTX2	orthodenticle homeobox 2	12.54	GeneCards inferred via : Publications (show sections)
10	CSH1	chorionic somatomammotropin hormone 1 (placental lactogen)	11.54	GeneCards inferred via : Publications (show sections)
11	LHX4	LIM homeobox 4	10.54	GeneCards inferred via : Publications (show sections)
12	POU1F1	POU class 1 homeobox 1	9.54	GeneCards inferred via : Publications (show sections)
13	PAX6	paired box 6	8.54	GeneCards inferred via : Publications (show sections)
14	CD79A	CD79a molecule, immunoglobulin-associated alpha	7.54	GeneCards inferred via : Publications (show sections)
15	IGF1	insulin-like growth factor 1 (somatomedin C)	6.54	GeneCards inferred via : Publications (show sections)
16	CD40LG	CD40 ligand	5.54	GeneCards inferred via : Publications (show sections)
17	GHR	growth hormone receptor	4.54	GeneCards inferred via : Publications (show sections)
18	CSHL1	chorionic somatomammotropin hormone-like 1	3.54	GeneCards inferred via : Publications (show sections)
19	SLC20A1	solute carrier family 20 (phosphate transporter), member 1	2.54	GeneCards inferred via : Publications (show sections)
20	ITGBL1	integrin, beta-like 1 (with EGF-like repeat domains)	1.54	GeneCards inferred via : Publications (show sections)

Products for genes related to Isolated Growth Hormone Deficiency disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	19	-	20	20
2	Novus Biologicals	16	19	20	-

Variations for Isolated Growth Hormone Deficiency

Expression for genes affiliated with Isolated Growth Hormone Deficiency

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
See all sources

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

Sources:
⁴⁹PathCards, ¹³EMD Millipore, ⁵⁴Reactome, ³⁷NCBI BioSystems Database, ³⁰KEGG, ⁵²QIAGEN
See all sources

Pathways related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show all 26)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Transcription factors in neurogenesis¹³	9.7	OTX2, PAX6, SOX3
2	Peptide hormone metabolism⁵⁴ Show member pathways Glycoprotein hormones⁵⁴ thyroid hormone biosynthesis³⁷ Insulin Processing⁵⁴ Metabolism of Angiotensinogen to Angiotensins⁵⁴ Synthesis, Secretion, and Deacylation of Ghrelin⁵⁴ Peptide hormone biosynthesis⁵⁴	9.5	IGF1, PAX6, GH1
3	B Cell Receptor Signaling Pathway³⁷ Show member pathways B cell receptor signaling pathway³⁰ BCR signaling pathway³⁷ TCR Signaling Pathway³⁷ T cell receptor signaling pathway³⁰	9.4	CD40LG, CD79A, BTK
4	Primary immunodeficiency³⁰	9.4	CD40LG, CD79A, BTK
5	NF-KappaB Family Pathway⁵² Show member pathways NF-KappaB (p50-p65) Pathway⁵²	9.4	IGF1, GHRH, GH2, GH1
6	Nanog in Mammalian ESC Pluripotency⁵² Show member pathways GSK3 Signaling⁵² eNOS Signaling⁵² 14-3-3 Induced Intracellular Signaling⁵²	9.4	IGF1, GHRH, GH2, GH1
7	p70S6K Signaling⁵² Show member pathways Renin-Angiotensin Pathway⁵² mTOR Pathway⁵²	9.4	GH1, GH2, GHRH, IGF1
8	G-Beta Gamma Signaling⁵² Show member pathways CRHR Pathway⁵² Relaxin Pathway⁵² GHRH Signaling⁵² Hedgehog Signaling in Mammals⁵²	9.4	GHRH, GHRHR, GH2, GH1, BTK
9	Endochondral Ossification³⁷	9.4	GH1, GHR, IGF1
10	Growth hormone receptor signaling⁵⁴	9.2	CSH1, GH1, GH2, GHR
11	Jak-STAT signaling pathway³⁰ Show member pathways Type III interferon signaling³⁷	9.2	GHR, GH2, GH1, CSH1
12	Interferon Signaling⁵⁴ Show member pathways ISG15 antiviral mechanism⁵⁴ Cytokine Signaling in Immune system⁵⁴ Regulation of IFNG signaling⁵⁴ Interferon gamma signaling⁵⁴ Antiviral mechanism by IFN-stimulated genes⁵⁴	9.2	CSH1, GH1, GH2, GHR
13	Nuclear signaling by ERBB4⁵⁴ Show member pathways Prolactin receptor signaling⁵⁴	9.2	GHR, GH2, GH1, CSH1
14	Akt Signaling⁵² Show member pathways p38 Signaling⁵² Tec Kinases Signaling⁵²	9.2	IGF1, GHRH, GH2, GH1, BTK
15	Phospholipase-C Pathway⁵² Show member pathways PTEN Pathway⁵²	9.2	IGF1, GHRH, GH2, GH1, BTK
16	PAK Pathway⁵² Show member pathways Epithelial Adherens Junctions⁵² Antioxidant Action of Vitamin-C⁵²	9.2	GH1, GH2, GHRH, IGF1, BTK
17	PI-3K cascade⁵⁴ Show member pathways Downregulation of ERBB4 signaling⁵⁴ AKT phosphorylates targets in the nucleus⁵⁴ Signaling by SCF-KIT⁵⁴ PI3K events in ERBB2 signaling⁵⁴ Fc epsilon receptor (FCERI) signaling⁵⁴ PI3K events in ERBB4 signaling⁵⁴ Signaling by ERBB4⁵⁴ GAB1 signalosome⁵⁴ Negative regulation of the PI3K/AKT network⁵⁴ Role of LAT2/NTAL/LAB on calcium mobilization⁵⁴ PIP3 activates AKT signaling⁵⁴ Regulation of KIT signaling⁵⁴ AKT phosphorylates targets in the cytosol⁵⁴ AKT-mediated inactivation of FOXO1A⁵⁴ PI3K/AKT Signaling in Cancer⁵⁴ Constitutive PI3K/AKT Signaling in Cancer⁵⁴ PI3K/AKT activation⁵⁴	9.0	GHR, GH2, GH1, CSH1, BTK
18	PEDF Induced Signaling⁵² Show member pathways all-trans-Retinoic Acid Signaling in Brain⁵² Cytokine-cytokine receptor interaction³⁰ NFAT Signaling and Lymphocyte Interactions⁵² STAT3 Pathway⁵² RAR-Gamma-RXR-Alpha Degradation⁵² PGC1Alpha Pathway⁵² Glucocorticoid Receptor Signaling⁵² IL-6 Pathway⁵² Endothelin-1 Signaling Pathway⁵² MIF Regulation of Innate Immune Cells⁵² MIF Mediated Glucocorticoid Regulation⁵²	8.8	GHR, GH2, GH1, BTK, CD40LG
19	PI3K-Akt signaling pathway³⁰	8.8	IGF1, GHR, GH2, GH1, CSH1
20	GPCR Pathway⁵² Show member pathways Breast Cancer Regulation by Stathmin1⁵² Pancreatic Adenocarcinoma⁵² P2Y Receptor Signaling⁵² Ras Pathway⁵² Paxillin Interactions⁵² NFAT in Immune Response⁵² Estrogen Pathway⁵²	8.8	IGF1, GHRH, GH2, GH1, BTK, CD79A
21	CREB Pathway⁵² Show member pathways Intracellular Calcium Signaling⁵² Activation of PKC through GPCR⁵² IP3 Pathway⁵²	8.8	IGF1, GHRH, GH2, GH1, BTK, CD79A
22	TGF-Beta Pathway⁵² Show member pathways SOCS Pathway⁵² JAK-STAT Pathway⁵² Regulation of eIF4 and p70S6K⁵² JNK Pathway⁵² MAPK Family Pathway⁵²	8.7	IGF1, GHRH, GHR, GH2, GH1, BTK
23	ERK Signaling⁵² Show member pathways ILK Signaling⁵² Molecular Mechanisms of Cancer⁵² Rho Family GTPases⁵² MAPK Signaling⁵²	8.6	IGF1, SOX3, PAX6, GHRH, GH2, GH1
24	Peptide ligand-binding receptors⁵⁴ Show member pathways Vasopressin-like receptors⁵⁴ Relaxin receptors⁵⁴ Formyl peptide receptors bind formyl peptides and many other ligands⁵⁴ GPCRs, Class A Rhodopsin-like³⁷ Class A/1 (Rhodopsin-like receptors)⁵⁴ GPCR ligand binding⁵⁴ Neuroactive ligand-receptor interaction³⁰ G alpha (i) signalling events⁵⁴ Orexin and neuropeptides FF and QRFP bind to their respective receptors⁵⁴ Tachykinin receptors bind tachykinins⁵⁴	8.6	GHRH, GHR, GHRHR, GH2, GH1, GHSR
25	ErbB4 Pathway⁵² Show member pathways UVC-Induced MAPK Signaling⁵² FGF Pathway⁵² LPS Stimulated MAPK Signaling⁵² Growth Hormone Signaling⁵² HMGB1 Pathway⁵² PACAP Signaling⁵² IL-4 Pathway⁵² Prolactin Signaling⁵² Thrombopoietin Pathway⁵² ErbB2-ErbB3 Heterodimers⁵² IL-2 Pathway⁵² PI3K Signaling in B-Lymphocyte⁵² TREM1 Pathway⁵² ErbB Family Pathway⁵²	8.5	IGF1, GHR, GH2, GH1, BTK, CD79A
26	Signaling by GPCR⁵⁴ Show member pathways GPCR downstream signaling⁵⁴ Signal Transduction⁵⁴	8.2	IGF1, GHRH, GHR, GHRHR, GH2, GH1

Compounds for genes affiliated with Isolated Growth Hormone Deficiency

Sources:
⁴⁴Novoseek, ²⁹IUPHAR, ¹²DrugBank, ⁵⁰PharmGKB, ²⁵HMDB, ⁶⁰Tocris Bioscience
See all sources

Compounds related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show top 50) (show all 82)

id	Compound	Score	Top Affiliating Genes
1	mk-0677⁴⁴ ²⁹	11.2	IGF1, GHSR
2	somatuline⁴⁴	10.1	IGF1, GH1
3	pyridostigmine⁴⁴ ¹²	11.0	GH1, GHRH, IGF1
4	acipimox⁴⁴ ²⁹	11.0	IGF1, GHRH, GH1
5	pirenzepine⁴⁴ ²⁹ ¹²	12.0	GH1, GHRH, IGF1
6	quinagolide⁴⁴	10.0	GH1, IGF1
7	naltrexone⁴⁴ ²⁹ ⁵⁰ ¹²	13.0	IGF1, GHRH, GH1
8	salbutamol⁴⁴ ⁵⁰ ²⁹ ²⁵ ¹²	14.0	CD79A, GH1, GHRH
9	sulfolipid i⁴⁴	10.0	CD79A, CD40LG
10	sandoglobulin⁴⁴	9.9	CD79A, CD40LG
11	clomiphene citrate⁴⁴	9.8	CD40LG, GH1, IGF1
12	leuprolide acetate⁴⁴	9.7	IGF1, GHR, GH1
13	cabergoline⁴⁴ ²⁹ ¹²	11.7	GH1, GHR, IGF1
14	forskolin⁴⁴ ⁵⁰ ¹²	11.6	POU1F1, GHRH, GHRHR, GH1, GHSR
15	pegvisomant⁴⁴ ¹²	10.6	GH1, GHR, GHRH, IGF1
16	dehydroepiandrosterone sulfate⁴⁴	9.6	IGF1, GHR, GH1
17	clonidine⁴⁴ ⁵⁰ ²⁹ ¹²	12.5	GH1, GHR, GHRH, IGF1
18	ivig⁴⁴	9.5	CD40LG, CD79A, BTK
19	triiodothyronine⁴⁴	9.5	IGF1, GHRH, GHR, GH1
20	levodopa⁴⁴ ¹²	10.5	IGF1, GHRH, GHR, GH1
21	valproate⁴⁴	9.5	IGF1, CD79A, CD40LG
22	lanreotide⁴⁴ ²⁹	10.4	IGF1, GHRH, GHR, GH1, GHSR
23	octreotide⁴⁴ ⁶⁰ ²⁹ ¹²	12.3	IGF1, GHRH, GHR, GH1, GHSR
24	gnrh⁴⁴	9.3	IGF1, HESX1, GHRH, GHR, GH1
25	dihydrotestosterone⁴⁴ ²⁹ ²⁵ ¹²	12.3	CD79A, GH1, GHR, IGF1
26	adenylate⁴⁴	9.3	GHRH, GHRHR, GH1, GHSR, CD40LG
27	c-peptide⁴⁴	9.3	IGF1, GHR, GH1
28	bromocriptine⁴⁴ ²⁹ ¹²	11.3	IGF1, POU1F1, GHRH, GHR, GH1
29	estradiol⁴⁴ ²⁵ ¹²	11.2	IGF1, GHRH, GHR, GH1, GHSR
30	ghrp⁴⁴	9.2	GHSR, IGF1, GHRH, GHR, GHRHR, GH1
31	hexarelin⁴⁴ ²⁹	10.2	GHSR, GH1, GHRHR, GHR, GHRH, IGF1
32	vitamin b12⁴⁴	8.9	IGF1, CD79A, CD40LG
33	vitamin d⁴⁴	8.9	IGF1, POU1F1, GHRH, GHR, GH1, CD79A
34	progesterone⁴⁴ ²⁹ ⁶⁰ ²⁵ ¹²	12.8	GH1, GHR, GHRH, POU1F1, IGF1
35	acth⁴⁴	8.8	IGF1, POU1F1, HESX1, GHRH, GHR, GH1
36	thyroxine⁴⁴ ²⁵	9.7	IGF1, GHRH, GHR, GH1, CD79A, CD40LG
37	creatinine⁴⁴	8.7	IGF1, GHR, GH1, CD79A, CD40LG
38	steroid⁴⁴	8.6	IGF1, POU1F1, GHRH, GHR, GH1, GHSR
39	ribonucleic acid⁴⁴	8.6	IGF1, POU1F1, GHRH, GHR, GHRHR, GH2
40	glucose⁴⁴	8.5	IGF1, PAX6, GHRH, GHR, GHRHR, GH2
41	cysteine⁴⁴	8.5	GHR, GHRHR, GH1, BTK, CD79A, CD40LG
42	glutamate⁴⁴	8.5	POU1F1, PAX6, GHRH, GHR, GHRHR, CD79A
43	alanine⁴⁴	8.5	SOX3, POU1F1, PAX6, GHR, GH1, CD79A
44	testosterone⁴⁴ ⁶⁰ ²⁵ ¹²	11.3	IGF1, GHRH, GHR, GH2, GH1, GHSR
45	serine⁴⁴	8.2	IGF1, PAX6, GHRH, GHR, GH1, GHSR
46	retinoic acid⁴⁴ ²⁵	9.2	IGF1, POU1F1, PAX6, GHR, GH1, CD79A
47	dopamine⁴⁴ ²⁹ ²⁵ ¹²	11.2	IGF1, POU1F1, GHRH, GHR, GH1, GHSR
48	estrogen⁴⁴	8.2	IGF1, POU1F1, GHRH, GHR, GH1, GHSR
49	dexamethasone⁴⁴ ⁵⁰ ²⁹ ¹²	11.0	IGF1, POU1F1, GHRH, GHR, GHRHR, GH1
50	arginine⁴⁴	6.6	POU1F1, IGF1, PAX6, GHRH, SLC20A1, CD40LG

GO Terms for genes affiliated with Isolated Growth Hormone Deficiency

Sources:
¹⁷Gene Ontology
See all sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	membrane raft	GO:045121	9.7	CD79A, BTK, GHSR
2	extracellular region	GO:005576	7.2	CSHL1, IGF1, ITGBL1, GHRH, GHR, GH2

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

(show all 28)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of growth hormone secretion	GO:060124	10.4	GHRH, GHRHR
2	somatotropin secreting cell development	GO:060133	10.3	GHRHR, POU1F1
3	cAMP-mediated signaling	GO:019933	10.3	GHRH, GHRHR
4	determination of adult lifespan	GO:008340	10.3	POU1F1, GHRHR
5	growth hormone secretion	GO:030252	10.2	GHSR, GHRHR, GHRH
6	water homeostasis	GO:030104	10.2	GHRHR, IGF1
7	cell fate specification	GO:001708	10.1	POU1F1, OTX2
8	growth hormone receptor signaling pathway	GO:060396	10.1	GHR, GH1
9	B cell activation	GO:042113	10.0	CD79A, BTK
10	hormone-mediated signaling pathway	GO:009755	10.0	GHSR, GHR
11	pituitary gland development	GO:021983	9.9	SOX3, PAX6
12	organ morphogenesis	GO:009887	9.9	PAX6, SOX3, LHX4
13	response to food	GO:032094	9.9	GHRH, GHR, GHSR
14	cellular response to insulin stimulus	GO:032869	9.9	GHR, GHRHR, GHSR
15	positive regulation of tyrosine phosphorylation of Stat3 protein	GO:042517	9.9	GH1, GHR
16	B cell receptor signaling pathway	GO:050853	9.9	CD79A, BTK
17	insulin-like growth factor receptor signaling pathway	GO:048009	9.8	GHR, IGF1
18	positive regulation of tyrosine phosphorylation of Stat5 protein	GO:042523	9.7	GH1, GHR, IGF1
19	positive regulation of peptidyl-tyrosine phosphorylation	GO:050731	9.7	GH1, GHR, IGF1
20	JAK-STAT cascade	GO:007259	9.7	GHR, GH1
21	B cell differentiation	GO:030183	9.7	CD40LG, CD79A, POU1F1
22	positive regulation of insulin-like growth factor receptor signaling pathway	GO:043568	9.6	IGF1, GHRH, GHRHR, GH1, GHSR
23	regulation of multicellular organism growth	GO:040014	9.6	IGF1, GHR
24	JAK-STAT cascade involved in growth hormone signaling pathway	GO:060397	9.6	GHR, GH2, GH1, CSH1
25	positive regulation of cell proliferation	GO:008284	9.6	GHRHR, GHRH, POU1F1, IGF1
26	B cell proliferation	GO:042100	9.3	CD40LG, CD79A
27	positive regulation of transcription, DNA-templated	GO:045893	9.3	OTX2, PAX6, POU1F1, IGF1
28	positive regulation of multicellular organism growth	GO:040018	9.2	GHSR, GH1, GHRHR, GHR, GHRH, POU1F1

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

id	Name	GO ID	Score	Top Affiliating Genes
1	growth hormone-releasing hormone receptor activity	GO:016520	10.1	GHRHR, GHSR
2	RNA polymerase II core promoter sequence-specific DNA binding	GO:000979	9.9	PAX6, SOX3
3	growth factor binding	GO:019838	9.7	GHRHR, GHR
4	peptide hormone binding	GO:017046	9.6	GHSR, GHRHR, GHR
5	sequence-specific DNA binding	GO:043565	9.0	OTX2, HESX1, POU1F1, LHX4
6	hormone activity	GO:005179	8.8	CSHL1, CSH1, GH1, GH2, IGF1

Products for genes affiliated with Isolated Growth Hormone Deficiency

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Sources for Isolated Growth Hormone Deficiency

¹antibodies-online

²BioGPS

³BitterDB

⁴CDC

⁵Cell Signaling Technology

⁶ClinicalTrials

⁷Clinvar

⁸dbSNP

⁹Disease Ontology

¹⁰diseasecard

¹¹DISEASES

¹²DrugBank

¹³EMD Millipore

¹⁴ExPASy

¹⁵FMA

¹⁶Gene Expression Omnibus DataSets

¹⁷Gene Ontology

¹⁸GeneCards

¹⁹GeneDecks

²⁰GeneReviews

²¹GeneTests

²²Genetics Home Reference

²³GTR

²⁴HGMD

²⁵HMDB

²⁶ICD10

²⁷ICD10 via Orphanet

²⁸ICD9CM

²⁹IUPHAR

³⁰KEGG

³¹LifeMap Discovery®

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PathCards

⁵⁰PharmGKB

⁵¹PubMed

⁵²QIAGEN

⁵³R&D Systems

⁵⁴Reactome

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸The Human Phenotype Ontology

⁵⁹Thomson Reuters

⁶⁰Tocris Bioscience

⁶¹UMLS

⁶²UMLS via Orphanet

⁶³UniProtKB/Swiss-Prot

⁶⁴Wikipedia

MCID: ISL003 MIFTS: 51	Isolated Growth Hormone Deficiency malady Endocrine diseases category
20 genes, 6 tissues, 107 related diseases, clinical trials Download this MalaCard Expand all tables

Isolated Growth Hormone Deficiency malady