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

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Aliases & Classifications for Isolated Growth Hormone Deficiency, Type Ib

MalaCards integrated aliases for Isolated Growth Hormone Deficiency, Type Ib:

Name: Isolated Growth Hormone Deficiency, Type Ib ⁵⁷ ⁷³

Isolated Growth Hormone Deficiency Type Ib ¹² ⁵⁹ ⁷⁵ ¹⁵

Dwarfism of Sindh ⁵⁷ ¹² ⁵³ ⁷⁵

Growth Hormone Deficiency, Isolated, Type Ib ⁵⁷ ¹³ ⁴⁰

Isolated Growth Hormone Deficiency Type 1b ⁵³ ²⁹ ⁶

Ighd Ib ⁵⁷ ¹² ⁷⁵

Ighd1b ⁵⁷ ⁵³ ⁷⁵

Congenital Isolated Growth Hormone Deficiency Type Ib ¹² ⁵⁹

Congenital Isolated Gh Deficiency Type Ib ¹² ⁵⁹

Congenital Ighd Type Ib ¹² ⁵⁹

Pituitary Dwarfism I ⁷⁵ ⁷³

Growth Hormone Deficiency, Isolated, 1b ⁷⁵

Ighd 1b ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

isolated growth hormone deficiency type ib
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

³²

isolated growth hormone deficiency, type ib:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Hypofunction and other disorders of pituitary gland

Hypopituitarism

Orphanet: ⁵⁹

Rare endocrine diseases

External Ids:

OMIM ⁵⁷ 612781

Disease Ontology ¹² DOID:0060874

ICD10 ³³ E23.0

Orphanet ⁵⁹ ORPHA231671

UMLS via Orphanet ⁷⁴ C2748571

ICD10 via Orphanet ³⁴ E23.0

MedGen ⁴² C2748571

MeSH ⁴⁴ D004393

SNOMED-CT via HPO ⁶⁹ 258211005 2109003 123983008 more

UMLS ⁷³ C2748571 C0342573

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Summaries for Isolated Growth Hormone Deficiency, Type Ib

Disease Ontology : ¹² An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.

MalaCards based summary : Isolated Growth Hormone Deficiency, Type Ib, also known as isolated growth hormone deficiency type ib, is related to laron syndrome and isolated growth hormone deficiency. An important gene associated with Isolated Growth Hormone Deficiency, Type Ib is GHRHR (Growth Hormone Releasing Hormone Receptor), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include bone and pituitary, and related phenotypes are growth hormone deficiency and delayed skeletal maturation

OMIM : ⁵⁷ Patients with IGHD type IB are characterized by low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to GH therapy. See entry 262400 for a summary of the different types of IGHD. (612781)

UniProtKB/Swiss-Prot : ⁷⁵ Growth hormone deficiency, isolated, 1B: An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy.

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Related Diseases for Isolated Growth Hormone Deficiency, Type Ib

Diseases related to Isolated Growth Hormone Deficiency, Type Ib via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)

#	Related Disease	Score	Top Affiliating Genes
1	laron syndrome	30.8	GH1 IGF1 IGFBP3
2	isolated growth hormone deficiency	30.3	GH1 GHRH GHRHR IGF1
3	dwarfism	29.3	GH1 GHRH GHRHR
4	growth hormone deficiency	27.3	GH1 GHRH GHRHR IGF1 IGFBP3
5	isolated growth hormone deficiency, type ia	11.4
6	pituitary stalk interruption syndrome	10.2	GH1 GHRHR
7	marasmus	10.2	GH1 IGFBP3
8	hypothalamic disease	10.1	GH1 GHRH
9	gigantism	10.1	GH1 GHRH
10	chromophobe adenoma	10.0	GH1 GHRH
11	adrenal gland hyperfunction	9.9	GH1 GHRH
12	slipped capital femoral epiphysis	9.9	IGF1 IGFBP3
13	secondary adrenal insufficiency	9.8	IGF1 IGFBP3
14	pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	9.8	IGF1 IGFBP3
15	pseudohypoparathyroidism, type ia	9.8	GH1 IGF1
16	diffuse idiopathic skeletal hyperostosis	9.8	IGF1 IGFBP3
17	central precocious puberty	9.8	IGF1 IGFBP3
18	empty sella syndrome	9.8	GH1 IGF1
19	mammographic density	9.8	IGF1 IGFBP3
20	hypothyroidism, congenital, nongoitrous, 4	9.8	GH1 IGF1
21	acid-labile subunit deficiency	9.8	IGF1 IGFBP3
22	fetal macrosomia	9.8	IGF1 IGFBP3
23	pituitary tumors	9.7	GH1 IGF1
24	mccune-albright syndrome	9.7	GH1 IGF1
25	pituitary hormone deficiency, combined, 2	9.7	GH1 IGF1
26	fibrous dysplasia	9.7	GH1 IGF1
27	gonadal disease	9.7	GH1 IGF1
28	osteogenesis imperfecta, type i	9.7	IGF1 IGFBP3
29	carcinoid syndrome	9.7	GHRH IGF1
30	hyperprolactinemia	9.6	GH1 IGF1
31	endocrine pancreas disease	9.6	GHRH IGF1
32	craniopharyngioma	9.6	GH1 IGF1
33	endocrine organ benign neoplasm	9.6	GHRH IGF1
34	exudative vitreoretinopathy 1	9.6	IGF1 IGFBP3
35	pituitary adenoma, prolactin-secreting	9.6	GH1 IGF1
36	colorectal adenoma	9.6	IGF1 IGFBP3
37	male reproductive organ cancer	9.5	IGF1 IGFBP3
38	breast disease	9.4	IGF1 IGFBP3
39	silver-russell syndrome	9.3	IGF1 IGFBP3
40	pituitary adenoma 1, multiple types	9.3	GH1 IGF1 IGFBP3
41	turner syndrome	9.2	GH1 IGF1 IGFBP3
42	hyperinsulinism	9.2	GH1 IGF1 IGFBP3
43	prader-willi syndrome	9.2	GH1 IGF1 IGFBP3
44	hypothyroidism	9.2	GH1 IGF1 IGFBP3
45	pituitary gland disease	9.1	GH1 GHRH IGF1
46	noonan syndrome 1	9.0	IGF1 IGFBP3
47	osteoporosis	8.9	GH1 IGF1 IGFBP3
48	isolated growth hormone deficiency, type ii	8.6	GH1 GHRH GHRHR IGF1
49	diabetes mellitus, noninsulin-dependent	8.6	GH1 IGF1 IGFBP3
50	hyperpituitarism	8.5	GH1 GHRH IGF1 IGFBP3

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

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Symptoms & Phenotypes for Isolated Growth Hormone Deficiency, Type Ib

Clinical features from OMIM:

612781

Human phenotypes related to Isolated Growth Hormone Deficiency, Type Ib:

³²

#	Description	HPO Source Accession
1	growth hormone deficiency ³²	HP:0000824
2	delayed skeletal maturation ³²	HP:0002750
3	short stature ³²	HP:0004322

MGI Mouse Phenotypes related to Isolated Growth Hormone Deficiency, Type Ib:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	8.92	GHRH GHRHR IGF1 IGFBP3

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Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Ib

Drugs for Isolated Growth Hormone Deficiency, Type Ib (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Hormones

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Study of Pituitary Size and Function in Familial Dwarfism of Sindh	Completed	NCT00004365

Search NIH Clinical Center for Isolated Growth Hormone Deficiency, Type Ib

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Genetic Tests for Isolated Growth Hormone Deficiency, Type Ib

Genetic tests related to Isolated Growth Hormone Deficiency, Type Ib:

#	Genetic test	Affiliating Genes
1	Isolated Growth Hormone Deficiency Type 1b ²⁹	GH1 GHRHR

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Anatomical Context for Isolated Growth Hormone Deficiency, Type Ib

MalaCards organs/tissues related to Isolated Growth Hormone Deficiency, Type Ib:

⁴¹

Bone, Pituitary

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Publications for Isolated Growth Hormone Deficiency, Type Ib

Articles related to Isolated Growth Hormone Deficiency, Type Ib:

#	Title	Authors	Year
1	A novel variant c.97C&gt;T of the Growth Hormone Releasing Hormone Receptor gene causes isolated growth hormone deficiency type Ib. ( 29537382 )	Galli-Tsinopoulou A....Laron Z.	2018
2	A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB. ( 29147571 )	Amar J.Y....Arslanian T.	2017
3	Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. ( 19417035 )	Mohamadi A....Salvatori R.	2009

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Genes for Isolated Growth Hormone Deficiency, Type Ib

Genes related to Isolated Growth Hormone Deficiency, Type Ib (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GHRHR	Growth Hormone Releasing Hormone Receptor	Protein Coding	1675.91	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)	10084571 10566659 11443201 (more) 17356054 17911170 11232012 11875102 8528260 9467553 9814493 12794696 12788864
2	GH1	Growth Hormone 1	Protein Coding	1670.59	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)	8496314 10678654 10689634
3	GHRH	Growth Hormone Releasing Hormone	Protein Coding	23.76	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	IGF1	Insulin Like Growth Factor 1	Protein Coding	14.15	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	IGFBP3	Insulin Like Growth Factor Binding Protein 3	Protein Coding	14.14	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Isolated Growth Hormone Deficiency, Type Ib

UniProtKB/Swiss-Prot genetic disease variations for Isolated Growth Hormone Deficiency, Type Ib:

⁷⁵ (show all 17)

#	Symbol	AA change	Variation ID	SNP ID
1	GH1	p.Leu16Pro	VAR_015801
2	GH1	p.Asp37Asn	VAR_015802
3	GH1	p.Arg42Cys	VAR_015803	rs71640273
4	GH1	p.Thr53Ile	VAR_015804
5	GH1	p.Lys67Arg	VAR_015805
6	GH1	p.Asn73Asp	VAR_015806	rs71640276
7	GH1	p.Ser97Phe	VAR_015807
8	GH1	p.Glu100Lys	VAR_015808
9	GH1	p.Gln117Leu	VAR_015810
10	GH1	p.Ser134Cys	VAR_015811
11	GH1	p.Ser134Arg	VAR_015812
12	GH1	p.Thr201Ala	VAR_015814
13	GHRHR	p.Leu144His	VAR_015796	rs121918118
14	GHRHR	p.Ala176Val	VAR_015797	rs774281185
15	GHRHR	p.Ala222Glu	VAR_015798	rs121918120
16	GHRHR	p.Phe242Cys	VAR_015799	rs121918119
17	GHRHR	p.Lys329Glu	VAR_015800	rs121918121

ClinVar genetic disease variations for Isolated Growth Hormone Deficiency, Type Ib:

⁶

(show all 32)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GH1	NM_000515.4(GH1): c.456+1G> C	single nucleotide variant	Pathogenic	rs797044449	GRCh37	Chromosome 17, 61995119: 61995119
2	GH1	NM_000515.4(GH1): c.456+1G> C	single nucleotide variant	Pathogenic	rs797044449	GRCh38	Chromosome 17, 63917759: 63917759
3	GH1	NM_000515.4(GH1): c.456+1G> T	single nucleotide variant	Pathogenic	rs797044449	GRCh38	Chromosome 17, 63917759: 63917759
4	GH1	NM_000515.4(GH1): c.456+1G> T	single nucleotide variant	Pathogenic	rs797044449	GRCh37	Chromosome 17, 61995119: 61995119
5	GH1	NM_000515.4(GH1): c.456+5G> C	single nucleotide variant	Pathogenic	rs863223308	GRCh38	Chromosome 17, 63917755: 63917755
6	GH1	NM_000515.4(GH1): c.456+5G> C	single nucleotide variant	Pathogenic	rs863223308	GRCh37	Chromosome 17, 61995115: 61995115
7	GHRHR	NM_000823.3(GHRHR): c.214G> T (p.Glu72Ter)	single nucleotide variant	Pathogenic	rs121918117	GRCh37	Chromosome 7, 31008731: 31008731
8	GHRHR	NM_000823.3(GHRHR): c.214G> T (p.Glu72Ter)	single nucleotide variant	Pathogenic	rs121918117	GRCh38	Chromosome 7, 30969116: 30969116
9	GHRHR	GHRHR, IVS1, G-A, +1	single nucleotide variant	Pathogenic
10	GHRHR	NM_000823.3(GHRHR): c.431T> A (p.Leu144His)	single nucleotide variant	Pathogenic	rs121918118	GRCh37	Chromosome 7, 31010798: 31010798
11	GHRHR	NM_000823.3(GHRHR): c.431T> A (p.Leu144His)	single nucleotide variant	Pathogenic	rs121918118	GRCh38	Chromosome 7, 30971183: 30971183
12	GHRHR	NM_000823.3(GHRHR): c.725T> G (p.Phe242Cys)	single nucleotide variant	Pathogenic	rs121918119	GRCh37	Chromosome 7, 31013727: 31013727
13	GHRHR	NM_000823.3(GHRHR): c.725T> G (p.Phe242Cys)	single nucleotide variant	Pathogenic	rs121918119	GRCh38	Chromosome 7, 30974112: 30974112
14	GHRHR	NM_000823.3(GHRHR): c.665C> A (p.Ala222Glu)	single nucleotide variant	Pathogenic	rs121918120	GRCh37	Chromosome 7, 31013667: 31013667
15	GHRHR	NM_000823.3(GHRHR): c.665C> A (p.Ala222Glu)	single nucleotide variant	Pathogenic	rs121918120	GRCh38	Chromosome 7, 30974052: 30974052
16	GHRHR	NM_000823.3(GHRHR): c.985A> G (p.Lys329Glu)	single nucleotide variant	Pathogenic	rs121918121	GRCh37	Chromosome 7, 31016054: 31016054
17	GHRHR	NM_000823.3(GHRHR): c.985A> G (p.Lys329Glu)	single nucleotide variant	Pathogenic	rs121918121	GRCh38	Chromosome 7, 30976439: 30976439
18	GHRHR	GHRHR, -124A-C, PROMOTER	single nucleotide variant	Pathogenic
19	GHRHR	NG_021416.1: g.615_8308del7694insAGAGATCCA	indel	Pathogenic		GRCh37	Chromosome 7, 30999250: 31006943
20	GHRHR	NG_021416.1: g.615_8308del7694insAGAGATCCA	indel	Pathogenic		GRCh38	Chromosome 7, 30959635: 30967328
21		NC_000007.14: g.62535490A> G	single nucleotide variant	Pathogenic	rs483352872	GRCh37	Chromosome 7, 61995868: 61995868
22		NC_000007.14: g.62535490A> G	single nucleotide variant	Pathogenic	rs483352872	GRCh38	Chromosome 7, 62535490: 62535490
23	GHRHR	NM_000823.3(GHRHR): c.281G> A (p.Arg94Gln)	single nucleotide variant	Likely pathogenic	rs200848306	GRCh38	Chromosome 7, 30969879: 30969879
24	GHRHR	NM_000823.3(GHRHR): c.281G> A (p.Arg94Gln)	single nucleotide variant	Likely pathogenic	rs200848306	GRCh37	Chromosome 7, 31009494: 31009494
25	GHRHR	NM_000823.3(GHRHR): c.418T> C (p.Ser140Pro)	single nucleotide variant	Likely pathogenic	rs606231412	GRCh37	Chromosome 7, 31010785: 31010785
26	GHRHR	NM_000823.3(GHRHR): c.418T> C (p.Ser140Pro)	single nucleotide variant	Likely pathogenic	rs606231412	GRCh38	Chromosome 7, 30971170: 30971170
27	GHRHR	NM_000823.3(GHRHR): c.495C> A (p.His165Gln)	single nucleotide variant	Likely pathogenic	rs606231413	GRCh37	Chromosome 7, 31011608: 31011608
28	GHRHR	NM_000823.3(GHRHR): c.495C> A (p.His165Gln)	single nucleotide variant	Likely pathogenic	rs606231413	GRCh38	Chromosome 7, 30971993: 30971993
29	GH1	NM_000515.4(GH1): c.7A> G (p.Thr3Ala)	single nucleotide variant	Benign	rs2001345	GRCh37	Chromosome 17, 61996130: 61996130
30	GH1	NM_000515.4(GH1): c.7A> G (p.Thr3Ala)	single nucleotide variant	Benign	rs2001345	GRCh38	Chromosome 17, 63918770: 63918770
31	GH1	NM_000515.4(GH1): c.-4T> G	single nucleotide variant	Benign/Likely benign	rs6173	GRCh38	Chromosome 17, 63918780: 63918780
32	GH1	NM_000515.4(GH1): c.-4T> G	single nucleotide variant	Benign/Likely benign	rs6173	GRCh37	Chromosome 17, 61996140: 61996140

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Expression for Isolated Growth Hormone Deficiency, Type Ib

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

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Pathways for Isolated Growth Hormone Deficiency, Type Ib

Pathways related to Isolated Growth Hormone Deficiency, Type Ib according to GeneCards Suite gene sharing:

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.56	GH1 GHRH IGF1
2	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	12.51	GH1 GHRH IGF1
3	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴ Hedgehog Signaling in Mammals ⁶⁴ Relaxin Pathway ⁶⁴ Signaling in Gap Junctions ⁶⁴	12.45	GH1 GHRH GHRHR
4	Regulation of lipid metabolism Insulin signaling-generic cascades ²² Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²² Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² ErbB2/ErbB3 signaling events ¹ Glucose Homeostasis ¹ Insulin signaling pathway ³⁷ IRS activation ⁶⁶ Signal attenuation ⁶⁶ Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation Insulin regulation of translation ²²	12.27	GH1 IGF1 IGFBP3
5	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	11.95	GH1 GHRH IGF1
6	G alpha (s) signalling events ⁶⁶	11.67	GHRH GHRHR
7	Adipogenesis ¹	11.6	GH1 IGF1
8	Development IGF-1 receptor signaling ²² Show member pathways Signal transduction AKT signaling ²²	11.53	IGF1 IGFBP3
9	Senescence and Autophagy in Cancer ¹	11.39	IGF1 IGFBP3
10	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.14	GH1 GHRH IGF1
11	Endochondral Ossification ¹	11.07	GH1 IGF1
12	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) ⁶⁶	9.95	IGF1 IGFBP3

Sources

GO Terms for Isolated Growth Hormone Deficiency, Type Ib

Cellular components related to Isolated Growth Hormone Deficiency, Type Ib according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.46	GH1 GHRH IGF1 IGFBP3
2	insulin-like growth factor ternary complex	GO:0042567	8.96	IGF1 IGFBP3
3	insulin-like growth factor binding protein complex	GO:0016942	8.62	IGF1 IGFBP3

Biological processes related to Isolated Growth Hormone Deficiency, Type Ib according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cell proliferation	GO:0008284	9.71	GHRH GHRHR IGF1
2	regulation of signaling receptor activity	GO:0010469	9.61	GH1 GHRH IGF1
3	positive regulation of peptidyl-tyrosine phosphorylation	GO:0050731	9.55	GH1 IGF1
4	response to insulin	GO:0032868	9.52	GHRHR IGF1
5	adenylate cyclase-activating G-protein coupled receptor signaling pathway	GO:0007189	9.51	GHRH GHRHR
6	positive regulation of phosphatidylinositol 3-kinase signaling	GO:0014068	9.49	GH1 IGF1
7	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	9.48	GH1 IGF1
8	response to nutrient levels	GO:0031667	9.46	GH1 IGF1
9	positive regulation of hormone secretion	GO:0046887	9.4	GHRH GHRHR
10	positive regulation of growth hormone secretion	GO:0060124	9.37	GHRH GHRHR
11	adenohypophysis development	GO:0021984	9.32	GHRH GHRHR
12	regulation of insulin-like growth factor receptor signaling pathway	GO:0043567	9.26	GHRHR IGFBP3
13	growth hormone secretion	GO:0030252	9.16	GHRH GHRHR
14	positive regulation of multicellular organism growth	GO:0040018	9.13	GH1 GHRH GHRHR
15	positive regulation of insulin-like growth factor receptor signaling pathway	GO:0043568	9.02	GH1 GHRH GHRHR IGF1 IGFBP3

Molecular functions related to Isolated Growth Hormone Deficiency, Type Ib according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	hormone activity	GO:0005179	8.96	GH1 IGF1
2	growth factor binding	GO:0019838	8.62	GHRHR IGFBP3

Sources

Sources for Isolated Growth Hormone Deficiency, Type Ib

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁹ Cosmic

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⁴¹ MalaCards

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia