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 ⁷¹

Isolated Growth Hormone Deficiency Type Ib ¹¹ ⁵⁸ ⁷³ ²⁸ ⁵ ¹⁴

Growth Hormone Deficiency, Isolated, Type Ib ⁵⁷ ¹² ³⁸

Ighd Ib ⁵⁷ ¹¹ ⁷³

Ighd1b ⁵⁷ ¹⁹ ⁷³

Congenital Isolated Growth Hormone Deficiency Type Ib ¹¹ ⁵⁸

Congenital Isolated Gh Deficiency Type Ib ¹¹ ⁵⁸

Congenital Ighd Type Ib ¹¹ ⁵⁸

Pituitary Dwarfism I ⁷³ ⁷¹

Dwarfism of Sindh ¹¹ ¹⁹

Isolated Growth Hormone Deficiency Type 1b ¹⁹

Growth Hormone Deficiency, Isolated, 1b ⁷³

Ighd 1b ¹⁹

Characteristics:

Inheritance:

Isolated Growth Hormone Deficiency Type Ib: Autosomal recessive ⁵⁸

Age Of Onset:

Isolated Growth Hormone Deficiency Type Ib: Infancy,Neonatal ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Hypofunction and other disorders of pituitary gland

Hypopituitarism

Orphanet: ⁵⁸

Rare endocrine diseases

External Ids:

Disease Ontology ¹¹ DOID:0060874

OMIM® ⁵⁷ 612781

OMIM Phenotypic Series ⁵⁷ PS262400

MeSH ⁴³ D004393

ICD10 ³¹ E23.0

ICD10 via Orphanet ³² E23.0

UMLS via Orphanet ⁷² C2748571

Orphanet ⁵⁸ ORPHA231671

MedGen ⁴⁰ C2748571

SNOMED-CT via HPO ⁶⁹ 123983008 2109003 237836003

UMLS ⁷¹ C0342573 C2748571

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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) (Updated 08-Dec-2022)

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 growth hormone deficiency. An important gene associated with Isolated Growth Hormone Deficiency, Type Ib is GH1 (Growth Hormone 1), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include pituitary and bone, and related phenotypes are delayed skeletal maturation and short stature

GARD: ¹⁹ 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.

Disease Ontology: ¹¹ 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: ⁷³ 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 all 25)

#	Related Disease	Score	Top Affiliating Genes
1	isolated growth hormone deficiency	32.6	GHRHR GHRH GH1 GH-LCR
2	growth hormone deficiency	31.1	GHRHR GH1
3	hypopituitarism	30.5	GHRHR GHRH GH1
4	isolated growth hormone deficiency, type ia	30.4	GHRHR GHRH GH1 GH-LCR
5	isolated growth hormone deficiency, type iv	11.5
6	laron syndrome	11.4
7	kowarski syndrome	10.3	GH1 GH-LCR
8	pituitary-dependent cushing's disease	10.2	GHRH GH1
9	hypothalamic disease	10.2	GHRH GH1
10	hyperpituitarism	10.2	GHRHR GHRH GH1
11	pituitary hormone deficiency, combined, 2	10.2	GHRHR GHRH GH1
12	pituitary gland disease	10.2	GHRHR GHRH GH1
13	septooptic dysplasia	10.2	GHRHR GHRH GH1
14	metaphyseal chondrodysplasia, jansen type	10.1	SCTR PTH2R
15	pituitary hypoplasia	10.1	GHRHR GHRH
16	retinitis pigmentosa 60	10.1	GPR137B GPR137
17	isolated growth hormone deficiency, type ii	10.1	GHRHR GHRH GH1 GH-LCR
18	acromegaly	10.1	GHRHR GHRH GH1
19	pseudovaginal perineoscrotal hypospadias	10.0
20	insulin-like growth factor i	10.0
21	microcephaly	10.0
22	hypoglycemia	10.0
23	chondrodysplasia, blomstrand type	10.0	SCTR PTH2R GLP2R ADCYAP1R1
24	pituitary adenoma	10.0	GHRHR GHRH GH1
25	vipoma	10.0	GHRH GH1

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

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

³⁰

#	Description	HPO Source Accession
1	delayed skeletal maturation ³⁰	HP:0002750
2	short stature ³⁰	HP:0004322
3	decreased response to growth hormone stimulation test ³⁰	HP:0000824

Clinical features from OMIM®:

612781 (Updated 08-Dec-2022)

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.44	ADCYAP1R1 CACNG7 GH1 GHRH GHRHR GLP2R

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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 Ib ²⁸	GH1

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Anatomical Context for Isolated Growth Hormone Deficiency, Type Ib

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

MalaCards : Pituitary, Bone

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Publications for Isolated Growth Hormone Deficiency, Type Ib

Articles related to Isolated Growth Hormone Deficiency, Type Ib:

(show all 18)

#	Title	Authors	PMID	Year
1	Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. ⁶² ⁵⁷ ⁵	Leiberman E...Carmi R	10678654	2000
2	Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 gene. ⁶² ⁵⁷ ⁵	Abdul-Latif H...Parks JS	10689634	2000
3	Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. ⁵⁷ ⁵	Cogan JD...Milner RD	8496314	1993
4	Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances. ⁵⁷	Alatzoglou KS...Dattani MT	24450934	2014
5	Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. ⁵⁷	Phillips JA...Cogan JD	8288694	1994
6	Effects of human pancreatic tumour growth hormone releasing factor on growth hormone and somatomedin C levels in patients with idiopathic growth hormone deficiency. ⁵⁷	Borges JL...Thorner MO	6134978	1983
7	Growth-hormone-releasing factor in growth hormone deficiency: demonstration of a hypothalamic defect in growth hormone release. ⁵⁷	Grossman A...Besser GM	6134983	1983
8	A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib ⁶²	Galli-Tsinopoulou A...Laron Z	29537382	2018
9	A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB. ⁶²	Amar JY...Arslanian T	29147571	2017
10	A novel gross indel in the growth hormone releasing hormone receptor gene of Indian IGHD patients. ⁶²	Kale S...Shah N	25153028	2014
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. ⁶²	Godi M...Giordano M	19622623	2009
12	Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. ⁶²	Mohamadi A...Salvatori R	19417035	2009
13	Growth hormone releasing hormone receptor (GHRH-r) gene mutation in Indian children with familial isolated growth hormone deficiency: a study from western India. ⁶²	Desai MP...Nair SR	16355809	2005
14	The Impact of congenital, severe, untreated growth hormone (GH) deficiency on bone size and density in young adults: insights from genetic GH-releasing hormone receptor deficiency. ⁶²	Maheshwari HG...Baumann G	12788864	2003
15	Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene. ⁶²	Salvatori R...Couch R	12444890	2002
16	Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib. ⁶²	Salvatori R...Levine MA	11232012	2001
17	Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. ⁶²	Murray RA...Baumann G	10782778	2000
18	Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh. ⁶²	Maheshwari HG...Baumann G	9814493	1998

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Genes for Isolated Growth Hormone Deficiency, Type Ib

Genes related to Isolated Growth Hormone Deficiency, Type Ib (3 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GH1	Growth Hormone 1	Protein Coding	1661.16	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	8496314 10678654 10689634 (more) 19762173 22139958
2	GHRHR	Growth Hormone Releasing Hormone Receptor	Protein Coding	783	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	19762173 22139958
3	GH-LCR	Growth Hormone Locus Control Region	Functional Element	400	Pathogenic ⁵	8496314 10678654 10689634
4	GHRH	Growth Hormone Releasing Hormone	Protein Coding	6.6	DISEASES inferred ¹⁴
5	PTH2R	Parathyroid Hormone 2 Receptor	Protein Coding	5.43	DISEASES inferred ¹⁴
6	GLP2R	Glucagon Like Peptide 2 Receptor	Protein Coding	5.19	DISEASES inferred ¹⁴
7	SCTR	Secretin Receptor	Protein Coding	4.94	DISEASES inferred ¹⁴
8	ADCYAP1R1	ADCYAP Receptor Type I	Protein Coding	4.93	DISEASES inferred ¹⁴
9	TMEM181	Transmembrane Protein 181	Protein Coding	4.85	DISEASES inferred ¹⁴
10	MRGPRE	MAS Related GPR Family Member E	Protein Coding	4.79	DISEASES inferred ¹⁴
11	GRAP2	GRB2 Related Adaptor Protein 2	Protein Coding	4.61	DISEASES inferred ¹⁴
12	CACNG7	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 7	Protein Coding	4.61	DISEASES inferred ¹⁴
13	GPR137	G Protein-Coupled Receptor 137	Protein Coding	4.6	DISEASES inferred ¹⁴
14	GPR137B	G Protein-Coupled Receptor 137B	Protein Coding	4.53	DISEASES inferred ¹⁴
15	GPR139	G Protein-Coupled Receptor 139	Protein Coding	4.52	DISEASES inferred ¹⁴
16	GIPR	Gastric Inhibitory Polypeptide Receptor	Protein Coding	4.51	DISEASES inferred ¹⁴
17	GPR155	G Protein-Coupled Receptor 155	Protein Coding	4.5	DISEASES inferred ¹⁴
18	PAQR6	Progestin And AdipoQ Receptor Family Member 6	Protein Coding	4.49	DISEASES inferred ¹⁴
19	VIPR2	Vasoactive Intestinal Peptide Receptor 2	Protein Coding	4.47	DISEASES inferred ¹⁴
20	MRGPRF	MAS Related GPR Family Member F	Protein Coding	4.46	DISEASES inferred ¹⁴
21	GRB10	Growth Factor Receptor Bound Protein 10	Protein Coding	4.46	DISEASES inferred ¹⁴
22	UCN	Urocortin	Protein Coding	4.45	DISEASES inferred ¹⁴

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Variations for Isolated Growth Hormone Deficiency, Type Ib

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

⁵ (show top 50) (show all 64)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GH1, GH-LCR	NM_000515.5(GH1):c.456+1G>C	SNV	Pathogenic	15966	rs797044449	GRCh37: 17:61995119-61995119 GRCh38: 17:63917759-63917759
2	GH1, GH-LCR	NM_000515.5(GH1):c.456+1G>T	SNV	Pathogenic	15967	rs797044449	GRCh37: 17:61995119-61995119 GRCh38: 17:63917759-63917759
3	GH1, GH-LCR	NM_000515.5(GH1):c.456+5G>C	SNV	Pathogenic	15976	rs863223308	GRCh37: 17:61995115-61995115 GRCh38: 17:63917755-63917755
4	GHRHR		INDEL	Pathogenic	56966		GRCh37: 7:30999250-31006943 GRCh38: 7:30959635-30967328
5	GHRHR	NC_000007.14:g.31008681G>T	SNV	Pathogenic	626257	rs1562606449	GRCh37: 7:31048296-31048296 GRCh38: 7:31008681-31008681
6	GHRHR	NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro)	SNV	Likely Pathogenic	161435	rs606231412	GRCh37: 7:31010785-31010785 GRCh38: 7:30971170-30971170
7	GHRHR	NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)	SNV	Likely Pathogenic	161436	rs200848306	GRCh37: 7:31009494-31009494 GRCh38: 7:30969879-30969879
8	GHRHR	NM_000823.4(GHRHR):c.495C>A (p.His165Gln)	SNV	Likely Pathogenic	161437	rs606231413	GRCh37: 7:31011608-31011608 GRCh38: 7:30971993-30971993
9	GHRHR	NM_000823.4(GHRHR):c.914G>A (p.Arg305His)	SNV	Uncertain Significance	360036	rs200472991	GRCh37: 7:31015423-31015423 GRCh38: 7:30975808-30975808
10	GHRHR	NM_000823.4(GHRHR):c.57+1G>T	SNV	Uncertain Significance	360028	rs2302022	GRCh37: 7:31003741-31003741 GRCh38: 7:30964126-30964126
11	GHRHR	NM_000823.4(GHRHR):c.875C>G (p.Ser292Trp)	SNV	Uncertain Significance	360035	rs527387367	GRCh37: 7:31014648-31014648 GRCh38: 7:30975033-30975033
12	GHRHR	NM_000823.4(GHRHR):c.*51C>T	SNV	Uncertain Significance	360038	rs185262577	GRCh37: 7:31018910-31018910 GRCh38: 7:30979295-30979295
13	GHRHR	NM_000823.4(GHRHR):c.29T>G (p.Val10Gly)	SNV	Uncertain Significance	360027	rs139599160	GRCh37: 7:31003712-31003712 GRCh38: 7:30964097-30964097
14	GHRHR	NM_000823.4(GHRHR):c.208T>G (p.Ser70Ala)	SNV	Uncertain Significance	360029	rs775025721	GRCh37: 7:31008725-31008725 GRCh38: 7:30969110-30969110
15	GHRHR	NM_000823.4(GHRHR):c.10C>T (p.Arg4Trp)	SNV	Uncertain Significance	909041	rs142361839	GRCh37: 7:31003693-31003693 GRCh38: 7:30964078-30964078
16	GHRHR	NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser)	SNV	Uncertain Significance	287138	rs10227922	GRCh37: 7:31011625-31011625 GRCh38: 7:30972010-30972010
17	GHRHR	NM_000823.4(GHRHR):c.174C>A (p.Thr58=)	SNV	Uncertain Significance	909044	rs540740642	GRCh37: 7:31008691-31008691 GRCh38: 7:30969076-30969076
18	GHRHR	NM_000823.4(GHRHR):c.200C>T (p.Thr67Met)	SNV	Uncertain Significance	909045	rs201893637	GRCh37: 7:31008717-31008717 GRCh38: 7:30969102-30969102
19	GHRHR	NM_000823.4(GHRHR):c.974+15T>G	SNV	Uncertain Significance	909103	rs1792566990	GRCh37: 7:31015498-31015498 GRCh38: 7:30975883-30975883
20	GHRHR	NM_000823.4(GHRHR):c.1165C>T (p.Arg389Trp)	SNV	Uncertain Significance	909105	rs200508601	GRCh37: 7:31018752-31018752 GRCh38: 7:30979137-30979137
21	GHRHR	NM_000823.4(GHRHR):c.*29A>G	SNV	Uncertain Significance	909107	rs759106817	GRCh37: 7:31018888-31018888 GRCh38: 7:30979273-30979273
22	GHRHR	NM_000823.4(GHRHR):c.279A>G (p.Lys93=)	SNV	Uncertain Significance	909904	rs1792444704	GRCh37: 7:31009492-31009492 GRCh38: 7:30969877-30969877
23	GHRHR	NM_000823.4(GHRHR):c.359C>T (p.Ala120Val)	SNV	Uncertain Significance	909905	rs138751215	GRCh37: 7:31009572-31009572 GRCh38: 7:30969957-30969957
24	GHRHR	NM_000823.4(GHRHR):c.447C>T (p.Thr149=)	SNV	Uncertain Significance	909906	rs753197652	GRCh37: 7:31010814-31010814 GRCh38: 7:30971199-30971199
25	GHRHR	NM_000823.4(GHRHR):c.*88T>A	SNV	Uncertain Significance	909959	rs578006876	GRCh37: 7:31018947-31018947 GRCh38: 7:30979332-30979332
26	GHRHR	NM_000823.4(GHRHR):c.490G>A (p.Val164Ile)	SNV	Uncertain Significance	910805	rs138615339	GRCh37: 7:31011603-31011603 GRCh38: 7:30971988-30971988
27	GHRHR	NM_000823.4(GHRHR):c.507C>G (p.Phe169Leu)	SNV	Uncertain Significance	910806	rs570281194	GRCh37: 7:31011620-31011620 GRCh38: 7:30972005-30972005
28	GHRHR	NM_000823.4(GHRHR):c.580C>T (p.His194Tyr)	SNV	Uncertain Significance	910807	rs377182945	GRCh37: 7:31011693-31011693 GRCh38: 7:30972078-30972078
29	GHRHR	NM_000823.4(GHRHR):c.6C>T (p.Asp2=)	SNV	Uncertain Significance	911972	rs148704543	GRCh37: 7:31003689-31003689 GRCh38: 7:30964074-30964074
30	GHRHR	NM_000823.4(GHRHR):c.760G>A (p.Val254Met)	SNV	Uncertain Significance	912022	rs375562610	GRCh37: 7:31014052-31014052 GRCh38: 7:30974437-30974437
31	GHRHR	NM_000823.4(GHRHR):c.882+11G>A	SNV	Uncertain Significance	912023	rs200997755	GRCh37: 7:31014666-31014666 GRCh38: 7:30975051-30975051
32	GHRHR	NM_000823.4(GHRHR):c.812C>T (p.Ala271Val)	SNV	Uncertain Significance	360033	rs547906129	GRCh37: 7:31014104-31014104 GRCh38: 7:30974489-30974489
33	GHRHR	NM_000823.4(GHRHR):c.*198C>A	SNV	Uncertain Significance	360040	rs886062276	GRCh37: 7:31019057-31019057 GRCh38: 7:30979442-30979442
34	GHRHR	NM_000823.4(GHRHR):c.640A>G (p.Met214Val)	SNV	Uncertain Significance	360032	rs535947130	GRCh37: 7:31013642-31013642 GRCh38: 7:30974027-30974027
35	GHRHR	NM_000823.4(GHRHR):c.741C>T (p.Leu247=)	SNV	Uncertain Significance	284569	rs151019928	GRCh37: 7:31013743-31013743 GRCh38: 7:30974128-30974128
36	GHRHR	NM_000823.4(GHRHR):c.47C>T (p.Pro16Leu)	SNV	Uncertain Significance	909042	rs142833343	GRCh37: 7:31003730-31003730 GRCh38: 7:30964115-30964115
37	GHRHR	NM_000823.4(GHRHR):c.93C>T (p.Ile31=)	SNV	Uncertain Significance	749584	rs143429066	GRCh37: 7:31008484-31008484 GRCh38: 7:30968869-30968869
38	GHRHR	NM_000823.4(GHRHR):c.975-6C>A	SNV	Uncertain Significance	729746	rs117572522	GRCh37: 7:31016038-31016038 GRCh38: 7:30976423-30976423
39	GHRHR	NM_000823.4(GHRHR):c.1105-14C>G	SNV	Uncertain Significance	909104	rs13223704	GRCh37: 7:31016882-31016882 GRCh38: 7:30977267-30977267
40	GHRHR	NM_000823.4(GHRHR):c.1242G>A (p.Ser414=)	SNV	Uncertain Significance	909106	rs28371562	GRCh37: 7:31018829-31018829 GRCh38: 7:30979214-30979214
41	GHRHR	NM_000823.4(GHRHR):c.237G>A (p.Pro79=)	SNV	Uncertain Significance	909902	rs28371558	GRCh37: 7:31008754-31008754 GRCh38: 7:30969139-30969139
42	GHRHR	NM_000823.4(GHRHR):c.812+12C>T	SNV	Uncertain Significance	360034	rs151020002	GRCh37: 7:31014116-31014116 GRCh38: 7:30974501-30974501
43	GHRHR	NM_000823.4(GHRHR):c.489C>T (p.Tyr163=)	SNV	Uncertain Significance	198104	rs147098353	GRCh37: 7:31011602-31011602 GRCh38: 7:30971987-30971987
44	GHRHR	NM_000823.4(GHRHR):c.660G>A (p.Leu220=)	SNV	Uncertain Significance	597235	rs145466944	GRCh37: 7:31013662-31013662 GRCh38: 7:30974047-30974047
45	GHRHR	NM_000823.4(GHRHR):c.751+12G>A	SNV	Uncertain Significance	912020	rs187794371	GRCh37: 7:31013765-31013765 GRCh38: 7:30974150-30974150
46	GHRHR	NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu)	SNV	Uncertain Significance	1031665	rs202243828	GRCh37: 7:31003736-31003736 GRCh38: 7:30964121-30964121
47	GH1, GH-LCR	NM_000515.5(GH1):c.246G>C (p.Glu82Asp)	SNV	Uncertain Significance	889155	rs61762497	GRCh37: 17:61995422-61995422 GRCh38: 17:63918062-63918062
48	GHRHR	NM_000823.4(GHRHR):c.1250del (p.Lys417fs)	DEL	Uncertain Significance	632503	rs771060895	GRCh37: 7:31018835-31018835 GRCh38: 7:30979220-30979220
49	GHRHR	NM_000823.4(GHRHR):c.489C>G (p.Tyr163Ter)	SNV	Uncertain Significance	632502	rs147098353	GRCh37: 7:31011602-31011602 GRCh38: 7:30971987-30971987
50	GHRHR	NM_000823.4(GHRHR):c.272C>T (p.Ala91Val)	SNV	Likely Benign	909903	rs144372265	GRCh37: 7:31009485-31009485 GRCh38: 7:30969870-30969870

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

⁷³ (show all 12)

#	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

Sources

Expression for Isolated Growth Hormone Deficiency, Type Ib

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

Sources

Pathways for Isolated Growth Hormone Deficiency, Type Ib

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

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.43	VIPR2 SCTR PTH2R GRAP2 GLP2R GIPR
2	GPCR downstream signalling ⁶⁶ Show member pathways G alpha (i) signalling events ⁶⁶ G alpha (q) signalling events ⁶⁶ Signaling by GPCR ⁶⁶	13.2	VIPR2 SCTR PTH2R GLP2R GIPR GHRHR
3	Class A/1 (Rhodopsin-like receptors) ⁶⁶ Show member pathways GPCR ligand binding ⁶⁶ GPCRs, class A rhodopsin-like ⁷⁴ Peptide GPCRs ⁷⁴ Peptide ligand-binding receptors ⁶⁶	12.99	ADCYAP1R1 GHRH GHRHR GIPR GLP2R PTH2R
4	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.32	GHRHR GHRH GH1 CACNG7
5	Presynaptic function of Kainate receptors ⁶⁶ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁶ Activation of kainate receptors upon glutamate binding ⁶⁶ Activation of Na-permeable kainate receptors ⁶⁶ Calcitonin-like ligand receptors ⁶⁶ Class B/2 (Secretin family receptors) ⁶⁶ G beta:gamma signalling through PLC beta ⁶⁶ Glucagon-type ligand receptors ⁶⁶ G-Protein Signaling through Tubby Protein ⁶⁴ Ionotropic activity of kainate receptors ⁶⁶	12.17	VIPR2 SCTR PTH2R GLP2R GIPR GHRHR
6	G alpha (s) signalling events ⁶⁶ Show member pathways Defective ACTH causes obesity and POMCD ⁶⁶	11.76	VIPR2 SCTR PTH2R GLP2R GIPR GHRHR
7	G-protein signaling_RhoA regulation pathway ²²	11.4	GRAP2 GHRH GH1 CACNG7
8	GPCRs, class B secretin-like ⁷⁴	10.53	VIPR2 SCTR PTH2R GLP2R GIPR GHRHR

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	membrane	GO:0016021	9.9	VIPR2 TMEM181 SCTR PTH2R PAQR6 MRGPRF
2	membrane	GO:0016020	9.9	VIPR2 TMEM181 SCTR PTH2R PAQR6 MRGPRF

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	10.1	ADCYAP1R1 GH1 GHRHR GIPR GLP2R GPR139
2	cell surface receptor signaling pathway	GO:0007166	10	VIPR2 SCTR PTH2R GLP2R GIPR GHRHR
3	positive regulation of multicellular organism growth	GO:0040018	9.91	GHRHR GHRH GH1
4	activation of adenylate cyclase activity	GO:0007190	9.88	GHRHR GIPR VIPR2
5	G protein-coupled receptor signaling pathway	GO:0007186	9.86	ADCYAP1R1 GHRH GHRHR GIPR GLP2R GPR139
6	positive regulation of cAMP-mediated signaling	GO:0043950	9.85	SCTR GIPR ADCYAP1R1
7	negative regulation of bone resorption	GO:0045779	9.84	GPR137B GPR137
8	positive regulation of growth hormone secretion	GO:0060124	9.83	GHRHR GHRH
9	positive regulation of insulin-like growth factor receptor signaling pathway	GO:0043568	9.8	GHRHR GHRH GH1
10	growth hormone secretion	GO:0030252	9.76	GHRHR GHRH
11	adenohypophysis development	GO:0021984	9.67	GHRHR GHRH
12	positive regulation of hormone secretion	GO:0046887	9.51	GHRHR GHRH
13	hormone secretion	GO:0046879	9.48	GHRHR GHRH
14	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	GO:0007188	9.47	VIPR2 SCTR PTH2R GLP2R GIPR GHRHR

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

#	Name	GO ID	Score	Top Affiliating Genes
1	G protein-coupled receptor activity	GO:0004930	10.13	VIPR2 SCTR PTH2R MRGPRF MRGPRE GPR139
2	G protein-coupled peptide receptor activity	GO:0008528	9.8	ADCYAP1R1 GHRHR GIPR GLP2R PTH2R SCTR
3	transmembrane signaling receptor activity	GO:0004888	9.76	VIPR2 SCTR PTH2R GLP2R GIPR GHRHR
4	vasoactive intestinal polypeptide receptor activity	GO:0004999	9.62	VIPR2 ADCYAP1R1
5	peptide hormone binding	GO:0017046	9.47	VIPR2 SCTR PTH2R GLP2R GIPR GHRHR

Sources

Sources for Isolated Growth Hormone Deficiency, Type Ib

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

IGHD1B MCID: ISL015 MIFTS: 42	Isolated Growth Hormone Deficiency, Type Ib (IGHD1B) Categories: Bone diseases, Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Isolated Growth Hormone Deficiency, Type Ib (IGHD1B)

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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:

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