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

Growth Hormone Deficiency, Isolated, Type Ib ⁵⁷ ¹³ ⁴⁰

Isolated Growth Hormone Deficiency Type 1b ⁵³ ²⁹ ⁶

Dwarfism of Sindh ¹² ⁵³ ⁷⁵

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 Bone diseases Immune 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

OMIM : ⁵⁷ IGHD type IB is an autosomal recessive disorder characterized by low but detectable levels of GH, short stature (more than 2 SD below the mean for age and sex), delayed bone age, and a good response to rhGH treatment without antibody formation (summary by Alatzoglou et al., 2014). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400. (612781)

MalaCards based summary : Isolated Growth Hormone Deficiency, Type Ib, also known as isolated growth hormone deficiency type ib, is related to isolated growth hormone deficiency and laron syndrome. 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 NF-KappaB Family Pathway and Regulation of lipid metabolism Insulin signaling-generic cascades. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include bone, pituitary and brain, and related phenotypes are delayed skeletal maturation and short stature

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.

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 63)

#	Related Disease	Score	Top Affiliating Genes
1	isolated growth hormone deficiency	31.9	GH1 GHR GHRH GHRHR IGF1
2	laron syndrome	31.5	GH1 GHR IGF1 IGFBP3
3	dwarfism	29.7	GH1 GHR GHRH GHRHR
4	growth hormone deficiency	29.6	GH1 GHRH GHRHR IGF1 IGFBP3
5	isolated growth hormone deficiency, type iv	11.6
6	isolated growth hormone deficiency, type ia	11.6
7	pituitary stalk interruption syndrome	10.1	GH1 GHRHR
8	non-functioning pituitary adenoma	10.1	GH1 GHR
9	functioning pituitary adenoma	10.1	GH1 GHR
10	hypothalamic disease	10.1	GH1 GHRH
11	gigantism	10.1	GH1 GHRH
12	tsh producing pituitary tumor	10.1	GH1 GHRH
13	chromophobe adenoma	10.1	GH1 GHRH
14	pseudohypoparathyroidism, type ia	10.0	GH1 IGF1
15	empty sella syndrome	10.0	GH1 IGF1
16	cone-rod dystrophy 12	10.0	GH1 IGF1
17	pituitary-dependent cushing's disease	10.0	GHR GHRH
18	traumatic brain injury	10.0	GH1 IGF1
19	hypothyroidism, congenital, nongoitrous, 4	10.0	GH1 IGF1
20	pituitary tumors	10.0	GH1 IGF1
21	carcinoid syndrome	10.0	GHRH IGF1
22	mccune-albright syndrome	10.0	GH1 IGF1
23	acromesomelic dysplasia, maroteaux type	10.0	GHR IGF1
24	fibrous dysplasia	10.0	GH1 IGF1
25	hyperprolactinemia	10.0	GH1 IGF1
26	craniopharyngioma	10.0	GH1 IGF1
27	pituitary adenoma, prolactin-secreting	10.0	GH1 IGF1
28	cell type benign neoplasm	9.9	GHRH IGF1
29	slipped capital femoral epiphysis	9.9	IGF1 IGFBP3
30	secondary adrenal insufficiency	9.9	IGF1 IGFBP3
31	pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	9.9	IGF1 IGFBP3
32	diffuse idiopathic skeletal hyperostosis	9.9	IGF1 IGFBP3
33	mammographic density	9.9	IGF1 IGFBP3
34	acid-labile subunit deficiency	9.9	IGF1 IGFBP3
35	gonadal disease	9.9	GH1 IGF1
36	fetal macrosomia	9.9	IGF1 IGFBP3
37	osteoporosis, juvenile	9.9	IGF1 IGFBP3
38	pituitary hormone deficiency, combined, 2	9.9	GH1 GHR IGF1
39	pituitary gland disease	9.9	GH1 GHRH IGF1
40	osteogenesis imperfecta, type i	9.9	IGF1 IGFBP3
41	exudative vitreoretinopathy 1	9.8	IGF1 IGFBP3
42	colorectal adenoma	9.8	IGF1 IGFBP3
43	nutritional deficiency disease	9.8	IGF1 IGFBP3
44	male reproductive organ cancer	9.8	IGF1 IGFBP3
45	male reproductive system disease	9.8	IGF1 IGFBP3
46	marasmus	9.8	GH1 IGF1 IGFBP3
47	pituitary adenoma 1, multiple types	9.8	GH1 IGF1 IGFBP3
48	silver-russell syndrome	9.7	GH1 IGF1 IGFBP3
49	hyperinsulinism	9.7	GH1 IGF1 IGFBP3
50	hypothyroidism	9.7	GH1 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	delayed skeletal maturation ³²	HP:0002750
2	short stature ³²	HP:0004322
3	growth hormone deficiency ³²	HP:0000824

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	adipose tissue	MP:0005375	9.46	GHR GHRHR IGF1 IGFBP3
2	endocrine/exocrine gland	MP:0005379	9.35	GHR GHRH GHRHR IGF1 IGFBP3
3	limbs/digits/tail	MP:0005371	8.92	GHR 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, Brain, Pineal

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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>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	1675.64	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 11875102 8528260 9467553 9814493 12794696 12788864 11232012
2	GH1	Growth Hormone 1	Protein Coding	1670.53	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	23.69	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	IGF1	Insulin Like Growth Factor 1	Protein Coding	14.12	DISEASES inferred ¹⁵
5	IGFBP3	Insulin Like Growth Factor Binding Protein 3	Protein Coding	14.09	DISEASES inferred ¹⁵
6	GHR	Growth Hormone Receptor	Protein Coding	13.04	DISEASES inferred ¹⁵

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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 30)

#	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	GHRHR	NM_000823.3(GHRHR): c.281G> A (p.Arg94Gln)	single nucleotide variant	Likely pathogenic	rs200848306	GRCh38	Chromosome 7, 30969879: 30969879
22	GHRHR	NM_000823.3(GHRHR): c.281G> A (p.Arg94Gln)	single nucleotide variant	Likely pathogenic	rs200848306	GRCh37	Chromosome 7, 31009494: 31009494
23	GHRHR	NM_000823.3(GHRHR): c.418T> C (p.Ser140Pro)	single nucleotide variant	Likely pathogenic	rs606231412	GRCh37	Chromosome 7, 31010785: 31010785
24	GHRHR	NM_000823.3(GHRHR): c.418T> C (p.Ser140Pro)	single nucleotide variant	Likely pathogenic	rs606231412	GRCh38	Chromosome 7, 30971170: 30971170
25	GHRHR	NM_000823.3(GHRHR): c.495C> A (p.His165Gln)	single nucleotide variant	Likely pathogenic	rs606231413	GRCh37	Chromosome 7, 31011608: 31011608
26	GHRHR	NM_000823.3(GHRHR): c.495C> A (p.His165Gln)	single nucleotide variant	Likely pathogenic	rs606231413	GRCh38	Chromosome 7, 30971993: 30971993
27	GH1	NM_000515.4(GH1): c.7A> G (p.Thr3Ala)	single nucleotide variant	Benign	rs2001345	GRCh37	Chromosome 17, 61996130: 61996130
28	GH1	NM_000515.4(GH1): c.7A> G (p.Thr3Ala)	single nucleotide variant	Benign	rs2001345	GRCh38	Chromosome 17, 63918770: 63918770
29	GH1	NM_000515.4(GH1): c.-4T> G	single nucleotide variant	Benign/Likely benign	rs6173	GRCh38	Chromosome 17, 63918780: 63918780
30	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 11)

#	Super pathways	Score	Top Affiliating Genes
1	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.23	GH1 GHRH IGF1
2	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	12.03	GH1 GHR IGF1 IGFBP3
3	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ¹	11.93	GH1 GHRH IGF1
4	Immune response IFN alpha/beta signaling pathway ²² Show member pathways Cytokine Network ⁶⁴ Interferon alpha/beta signaling ⁶⁶ Regulation of IFNA signaling ⁶⁶	11.75	GH1 GHRH IGF1
5	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.59	GH1 GHRH IGF1
6	Senescence and Autophagy in Cancer ¹	11.52	IGF1 IGFBP3
7	G-protein signaling_RhoA regulation pathway ²²	11.12	GH1 GHRH IGF1
8	Growth hormone receptor signaling ⁶⁶ Show member pathways Prolactin receptor signaling ⁶⁶	10.93	GH1 GHR
9	Endochondral Ossification ¹	10.61	GH1 GHR IGF1
10	G-protein signaling_Rap2B regulation pathway ²²	10.56	GH1 GHRH IGF1
11	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) ⁶⁶	10.48	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 region	GO:0005576	9.72	GH1 GHR GHRH IGF1 IGFBP3
2	extracellular space	GO:0005615	9.65	GH1 GHR GHRH IGF1 IGFBP3
3	insulin-like growth factor ternary complex	GO:0042567	9.16	IGF1 IGFBP3
4	insulin-like growth factor binding protein complex	GO:0016942	8.96	IGF1 IGFBP3
5	growth hormone receptor complex	GO:0070195	8.62	GH1 GHR

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

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cell proliferation	GO:0008284	9.77	GHRH GHRHR IGF1
2	regulation of signaling receptor activity	GO:0010469	9.75	GH1 GHRH IGF1
3	adenylate cyclase-activating G protein-coupled receptor signaling pathway	GO:0007189	9.61	GHRH GHRHR
4	cellular response to insulin stimulus	GO:0032869	9.6	GHR GHRHR
5	positive regulation of phosphatidylinositol 3-kinase signaling	GO:0014068	9.58	GH1 IGF1
6	response to glucocorticoid	GO:0051384	9.57	GHR GHRHR
7	regulation of multicellular organism growth	GO:0040014	9.56	GHR IGF1
8	positive regulation of JAK-STAT cascade	GO:0046427	9.55	GH1 GHR
9	response to food	GO:0032094	9.54	GHR GHRH
10	hormone metabolic process	GO:0042445	9.52	GHR GHRHR
11	insulin-like growth factor receptor signaling pathway	GO:0048009	9.51	GHR IGF1
12	positive regulation of peptidyl-tyrosine phosphorylation	GO:0050731	9.5	GH1 GHR IGF1
13	JAK-STAT cascade involved in growth hormone signaling pathway	GO:0060397	9.49	GH1 GHR
14	growth hormone receptor signaling pathway	GO:0060396	9.48	GH1 GHR
15	positive regulation of hormone secretion	GO:0046887	9.46	GHRH GHRHR
16	adenohypophysis development	GO:0021984	9.43	GHRH GHRHR
17	positive regulation of growth hormone secretion	GO:0060124	9.4	GHRH GHRHR
18	growth hormone secretion	GO:0030252	9.37	GHRH GHRHR
19	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	9.33	GH1 GHR IGF1
20	positive regulation of circadian sleep/wake cycle, non-REM sleep	GO:0046010	9.26	GHRH GHRHR
21	positive regulation of multicellular organism growth	GO:0040018	9.26	GH1 GHR GHRH GHRHR
22	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	peptide hormone binding	GO:0017046	9.16	GHR GHRHR
2	hormone activity	GO:0005179	9.13	GH1 GHRH IGF1
3	growth factor binding	GO:0019838	8.8	GHR GHRHR IGFBP3

Sources

Sources for Isolated Growth Hormone Deficiency, Type Ib

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

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

Isolated Growth Hormone Deficiency, Type Ib (IGHD1B)

Aliases & Classifications for Isolated Growth Hormone Deficiency, Type Ib

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

Characteristics:

Orphanet epidemiological data:

HPO:

Classifications:

External Ids:

Summaries for Isolated Growth Hormone Deficiency, Type Ib

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:

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

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency, Type Ib

Clinical features from OMIM:

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

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

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):

Interventional clinical trials:

Genetic Tests for Isolated Growth Hormone Deficiency, Type Ib

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

Anatomical Context for Isolated Growth Hormone Deficiency, Type Ib

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

Publications for Isolated Growth Hormone Deficiency, Type Ib

Articles related to Isolated Growth Hormone Deficiency, Type Ib:

Genes for Isolated Growth Hormone Deficiency, Type Ib

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

Variations for Isolated Growth Hormone Deficiency, Type Ib

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

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

Expression for Isolated Growth Hormone Deficiency, Type Ib

Pathways for Isolated Growth Hormone Deficiency, Type Ib

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

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:

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

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

Sources for Isolated Growth Hormone Deficiency, Type Ib