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

IGHD1B MCID: ISL015 MIFTS: 39	Isolated Growth Hormone Deficiency, Type Ib (IGHD1B) Categories: Bone diseases, Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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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 ⁷⁰

Isolated Growth Hormone Deficiency Type Ib ¹² ⁵⁸ ⁷² ²⁹ ⁶ ¹⁵

Growth Hormone Deficiency, Isolated, Type Ib ⁵⁷ ¹³ ³⁹

Ighd Ib ⁵⁷ ¹² ⁷²

Ighd1b ⁵⁷ ²⁰ ⁷²

Congenital Isolated Growth Hormone Deficiency Type Ib ¹² ⁵⁸

Congenital Isolated Gh Deficiency Type Ib ¹² ⁵⁸

Congenital Ighd Type Ib ¹² ⁵⁸

Pituitary Dwarfism I ⁷² ⁷⁰

Dwarfism of Sindh ¹² ²⁰

Isolated Growth Hormone Deficiency Type 1b ²⁰

Growth Hormone Deficiency, Isolated, 1b ⁷²

Ighd 1b ²⁰

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

HPO:

³¹

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: ³² ³³

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 ¹² DOID:0060874

OMIM® ⁵⁷ 612781

OMIM Phenotypic Series ⁵⁷ PS262400

MeSH ⁴⁴ D004393

ICD10 ³² E23.0

ICD10 via Orphanet ³³ E23.0

UMLS via Orphanet ⁷¹ C2748571

Orphanet ⁵⁸ ORPHA231671

MedGen ⁴¹ C2748571

SNOMED-CT via HPO ⁶⁸ 123983008 2109003 237836003 more

UMLS ⁷⁰ 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 05-Apr-2021)

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, type iv and isolated 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 is G-protein signaling_RhoA regulation pathway. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include pituitary, 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 : ⁷² 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 all 26)

#	Related Disease	Score	Top Affiliating Genes
1	isolated growth hormone deficiency, type iv	32.8	GHRHR GH1 GH-LCR
2	isolated growth hormone deficiency	32.5	GHRHR GHRH GH1 GH-LCR
3	growth hormone deficiency	30.8	GHRHR GHRH GH1 GH-LCR
4	hypopituitarism	30.5	GHRHR GHRH GH1
5	dwarfism	30.4	GHRHR GHRH GH1
6	isolated growth hormone deficiency, type ia	11.5
7	laron syndrome	11.4
8	kowarski syndrome	10.3	GH1 GH-LCR
9	tsh producing pituitary tumor	10.3	GHRHR GH1
10	gigantism	10.3	GHRH GH1
11	pituitary-dependent cushing's disease	10.3	GHRH GH1
12	hypothalamic disease	10.2	GHRH GH1
13	isolated growth hormone deficiency type iii	10.2	GHRHR GHRH GH1
14	pituitary hormone deficiency, combined, 2	10.2	GHRHR GHRH GH1
15	hyperpituitarism	10.2	GHRH GH1
16	pituitary gland disease	10.2	GHRHR GHRH GH1
17	septooptic dysplasia	10.2	GHRHR GHRH GH1
18	pseudohypoparathyroidism, type ia	10.1	GHRH GH1
19	acromegaly	10.1	GHRHR GHRH GH1
20	isolated growth hormone deficiency, type ii	10.1	GHRHR GHRH GH1 GH-LCR
21	vipoma	10.1	GHRH GH1
22	pituitary adenoma	10.1	GHRHR GHRH GH1
23	insulin-like growth factor i	10.0
24	microcephaly	10.0
25	hypoglycemia	10.0
26	pituitary hypoplasia	10.0	GHRHR 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:

³¹

#	Description	HPO Source Accession
1	delayed skeletal maturation ³¹	HP:0002750
2	short stature ³¹	HP:0004322
3	decreased response to growth hormone stimuation test ³¹	HP:0000824

Clinical features from OMIM®:

612781 (Updated 05-Apr-2021)

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.36	CACNG7 GHRH GHRHR GPR137 GPR139 GPR149

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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 ²⁹	GH1

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Anatomical Context for Isolated Growth Hormone Deficiency, Type Ib

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

⁴⁰

Pituitary

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Publications for Isolated Growth Hormone Deficiency, Type Ib

Articles related to Isolated Growth Hormone Deficiency, Type Ib:

#	Title	Authors	PMID	Year
1	Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 gene. ⁶ ⁵⁷ ⁶¹	Abdul-Latif H...Parks JS	10689634	2000
2	Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. ⁶ ⁵⁷	Leiberman E...Carmi R	10678654	2000
3	Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. ⁵⁷ ⁶	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	Growth-hormone-releasing factor in growth hormone deficiency: demonstration of a hypothalamic defect in growth hormone release. ⁵⁷	Grossman A...Besser GM	6134983	1983
7	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
8	A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib ⁶¹	Galli-Tsinopoulou A...Laron Z	29537382	2018
9	A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB. ⁶¹	Amar JY...Arslanian T	29147571	2017
10	Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. ⁶¹	Mohamadi A...Salvatori R	19417035	2009

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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 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GH1	Growth Hormone 1	Protein Coding	1671.96	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	8496314 19762173 22139958
2	GHRHR	Growth Hormone Releasing Hormone Receptor	Protein Coding	803.11	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	19762173 22139958
3	GH-LCR	Growth Hormone Locus Control Region	Biological Region	408.7	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	8496314
4	GHRH	Growth Hormone Releasing Hormone	Protein Coding	14.16	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	TMEM181	Transmembrane Protein 181	Protein Coding	5.38	DISEASES inferred ¹⁵
6	MRGPRE	MAS Related GPR Family Member E	Protein Coding	5.34	DISEASES inferred ¹⁵
7	PAQR6	Progestin And AdipoQ Receptor Family Member 6	Protein Coding	5.34	DISEASES inferred ¹⁵
8	PAQR4	Progestin And AdipoQ Receptor Family Member 4	Protein Coding	5.28	DISEASES inferred ¹⁵
9	CACNG7	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 7	Protein Coding	5.21	DISEASES inferred ¹⁵
10	MRGPRF	MAS Related GPR Family Member F	Protein Coding	5.19	DISEASES inferred ¹⁵
11	GRAP2	GRB2 Related Adaptor Protein 2	Protein Coding	5.18	DISEASES inferred ¹⁵
12	GPR137	G Protein-Coupled Receptor 137	Protein Coding	5.17	DISEASES inferred ¹⁵
13	GPR139	G Protein-Coupled Receptor 139	Protein Coding	5.16	DISEASES inferred ¹⁵
14	GPR137B	G Protein-Coupled Receptor 137B	Protein Coding	5.14	DISEASES inferred ¹⁵
15	GPR155	G Protein-Coupled Receptor 155	Protein Coding	5.09	DISEASES inferred ¹⁵
16	MRGPRX1	MAS Related GPR Family Member X1	Protein Coding	5.08	DISEASES inferred ¹⁵
17	PIRT	Phosphoinositide Interacting Regulator Of Transient Receptor Potential Channels	Protein Coding	5.07	DISEASES inferred ¹⁵
18	GRB10	Growth Factor Receptor Bound Protein 10	Protein Coding	5.04	DISEASES inferred ¹⁵
19	GPR149	G Protein-Coupled Receptor 149	Protein Coding	5.03	DISEASES inferred ¹⁵
20	GPRC5C	G Protein-Coupled Receptor Class C Group 5 Member C	Protein Coding	4.98	DISEASES inferred ¹⁵

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Variations for Isolated Growth Hormone Deficiency, Type Ib

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

⁶ (show top 50) (show all 65)

#	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.1089_1093del (p.Leu364fs)	Deletion	Pathogenic	265396	rs748432685	GRCh37: 7:31016156-31016160 GRCh38: 7:30976541-30976545
7	GHRHR	NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro)	SNV	Likely pathogenic	161435	rs606231412	GRCh37: 7:31010785-31010785 GRCh38: 7:30971170-30971170
8	GHRHR	NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)	SNV	Likely pathogenic	161436	rs200848306	GRCh37: 7:31009494-31009494 GRCh38: 7:30969879-30969879
9	GHRHR	NM_000823.4(GHRHR):c.495C>A (p.His165Gln)	SNV	Likely pathogenic	161437	rs606231413	GRCh37: 7:31011608-31011608 GRCh38: 7:30971993-30971993
10	GHRHR	NM_000823.4(GHRHR):c.1250del (p.Lys417fs)	Deletion	Conflicting interpretations of pathogenicity	632503	rs771060895	GRCh37: 7:31018835-31018835 GRCh38: 7:30979220-30979220
11	GHRHR	NM_000823.4(GHRHR):c.975-6C>A	SNV	Uncertain significance	729746	rs117572522	GRCh37: 7:31016038-31016038 GRCh38: 7:30976423-30976423
12	GHRHR	NM_000823.4(GHRHR):c.93C>T (p.Ile31=)	SNV	Uncertain significance	749584	rs143429066	GRCh37: 7:31008484-31008484 GRCh38: 7:30968869-30968869
13	GHRHR	NM_000823.4(GHRHR):c.47C>T (p.Pro16Leu)	SNV	Uncertain significance	909042		GRCh37: 7:31003730-31003730 GRCh38: 7:30964115-30964115
14	GHRHR	NM_000823.4(GHRHR):c.10C>T (p.Arg4Trp)	SNV	Uncertain significance	909041		GRCh37: 7:31003693-31003693 GRCh38: 7:30964078-30964078
15	GHRHR	NM_000823.4(GHRHR):c.489C>G (p.Tyr163Ter)	SNV	Uncertain significance	632502	rs147098353	GRCh37: 7:31011602-31011602 GRCh38: 7:30971987-30971987
16	GH1 , GH-LCR	NM_000515.5(GH1):c.246G>C (p.Glu82Asp)	SNV	Uncertain significance	889155		GRCh37: 17:61995422-61995422 GRCh38: 17:63918062-63918062
17	GHRHR	NM_000823.4(GHRHR):c.489C>T (p.Tyr163=)	SNV	Uncertain significance	198104	rs147098353	GRCh37: 7:31011602-31011602 GRCh38: 7:30971987-30971987
18	GHRHR	NM_000823.4(GHRHR):c.6C>T (p.Asp2=)	SNV	Uncertain significance	911972		GRCh37: 7:31003689-31003689 GRCh38: 7:30964074-30964074
19	GHRHR	NM_000823.4(GHRHR):c.660G>A (p.Leu220=)	SNV	Uncertain significance	597235	rs145466944	GRCh37: 7:31013662-31013662 GRCh38: 7:30974047-30974047
20	GHRHR	NM_000823.4(GHRHR):c.580C>T (p.His194Tyr)	SNV	Uncertain significance	910807		GRCh37: 7:31011693-31011693 GRCh38: 7:30972078-30972078
21	GHRHR	NM_000823.4(GHRHR):c.507C>G (p.Phe169Leu)	SNV	Uncertain significance	910806		GRCh37: 7:31011620-31011620 GRCh38: 7:30972005-30972005
22	GHRHR	NM_000823.4(GHRHR):c.490G>A (p.Val164Ile)	SNV	Uncertain significance	910805		GRCh37: 7:31011603-31011603 GRCh38: 7:30971988-30971988
23	GHRHR	NM_000823.4(GHRHR):c.*88T>A	SNV	Uncertain significance	909959		GRCh37: 7:31018947-31018947 GRCh38: 7:30979332-30979332
24	GHRHR	NM_000823.4(GHRHR):c.447C>T (p.Thr149=)	SNV	Uncertain significance	909906		GRCh37: 7:31010814-31010814 GRCh38: 7:30971199-30971199
25	GHRHR	NM_000823.4(GHRHR):c.359C>T (p.Ala120Val)	SNV	Uncertain significance	909905		GRCh37: 7:31009572-31009572 GRCh38: 7:30969957-30969957
26	GHRHR	NM_000823.4(GHRHR):c.279A>G (p.Lys93=)	SNV	Uncertain significance	909904		GRCh37: 7:31009492-31009492 GRCh38: 7:30969877-30969877
27	GHRHR	NM_000823.4(GHRHR):c.237G>A (p.Pro79=)	SNV	Uncertain significance	909902		GRCh37: 7:31008754-31008754 GRCh38: 7:30969139-30969139
28	GHRHR	NM_000823.4(GHRHR):c.*29A>G	SNV	Uncertain significance	909107		GRCh37: 7:31018888-31018888 GRCh38: 7:30979273-30979273
29	GHRHR	NM_000823.4(GHRHR):c.1242G>A (p.Ser414=)	SNV	Uncertain significance	909106		GRCh37: 7:31018829-31018829 GRCh38: 7:30979214-30979214
30	GHRHR	NM_000823.4(GHRHR):c.1165C>T (p.Arg389Trp)	SNV	Uncertain significance	909105		GRCh37: 7:31018752-31018752 GRCh38: 7:30979137-30979137
31	GHRHR	NM_000823.4(GHRHR):c.1105-14C>G	SNV	Uncertain significance	909104		GRCh37: 7:31016882-31016882 GRCh38: 7:30977267-30977267
32	GHRHR	NM_000823.4(GHRHR):c.974+15T>G	SNV	Uncertain significance	909103		GRCh37: 7:31015498-31015498 GRCh38: 7:30975883-30975883
33	GHRHR	NM_000823.4(GHRHR):c.200C>T (p.Thr67Met)	SNV	Uncertain significance	909045		GRCh37: 7:31008717-31008717 GRCh38: 7:30969102-30969102
34	GHRHR	NM_000823.4(GHRHR):c.174C>A (p.Thr58=)	SNV	Uncertain significance	909044		GRCh37: 7:31008691-31008691 GRCh38: 7:30969076-30969076
35	GHRHR	NM_000823.4(GHRHR):c.914G>A (p.Arg305His)	SNV	Uncertain significance	360036	rs200472991	GRCh37: 7:31015423-31015423 GRCh38: 7:30975808-30975808
36	GHRHR	NM_000823.4(GHRHR):c.57+1G>T	SNV	Uncertain significance	360028	rs2302022	GRCh37: 7:31003741-31003741 GRCh38: 7:30964126-30964126
37	GHRHR	NM_000823.4(GHRHR):c.640A>G (p.Met214Val)	SNV	Uncertain significance	360032	rs535947130	GRCh37: 7:31013642-31013642 GRCh38: 7:30974027-30974027
38	GHRHR	NM_000823.4(GHRHR):c.812+12C>T	SNV	Uncertain significance	360034	rs151020002	GRCh37: 7:31014116-31014116 GRCh38: 7:30974501-30974501
39	GHRHR	NM_000823.4(GHRHR):c.*198C>A	SNV	Uncertain significance	360040	rs886062276	GRCh37: 7:31019057-31019057 GRCh38: 7:30979442-30979442
40	GHRHR	NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu)	SNV	Uncertain significance	1031665		GRCh37: 7:31003736-31003736 GRCh38: 7:30964121-30964121
41	GHRHR	NM_000823.4(GHRHR):c.882+11G>A	SNV	Uncertain significance	912023		GRCh37: 7:31014666-31014666 GRCh38: 7:30975051-30975051
42	GHRHR	NM_000823.4(GHRHR):c.760G>A (p.Val254Met)	SNV	Uncertain significance	912022		GRCh37: 7:31014052-31014052 GRCh38: 7:30974437-30974437
43	GHRHR	NM_000823.4(GHRHR):c.751+12G>A	SNV	Uncertain significance	912020		GRCh37: 7:31013765-31013765 GRCh38: 7:30974150-30974150
44	GHRHR	NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser)	SNV	Uncertain significance	287138	rs10227922	GRCh37: 7:31011625-31011625 GRCh38: 7:30972010-30972010
45	GHRHR	NM_000823.4(GHRHR):c.741C>T (p.Leu247=)	SNV	Uncertain significance	284569	rs151019928	GRCh37: 7:31013743-31013743 GRCh38: 7:30974128-30974128
46	GHRHR	NM_000823.4(GHRHR):c.875C>G (p.Ser292Trp)	SNV	Uncertain significance	360035	rs527387367	GRCh37: 7:31014648-31014648 GRCh38: 7:30975033-30975033
47	GHRHR	NM_000823.4(GHRHR):c.*51C>T	SNV	Uncertain significance	360038	rs185262577	GRCh37: 7:31018910-31018910 GRCh38: 7:30979295-30979295
48	GHRHR	NM_000823.4(GHRHR):c.29T>G (p.Val10Gly)	SNV	Uncertain significance	360027	rs139599160	GRCh37: 7:31003712-31003712 GRCh38: 7:30964097-30964097
49	GHRHR	NM_000823.4(GHRHR):c.208T>G (p.Ser70Ala)	SNV	Uncertain significance	360029	rs775025721	GRCh37: 7:31008725-31008725 GRCh38: 7:30969110-30969110
50	GHRHR	NM_000823.4(GHRHR):c.812C>T (p.Ala271Val)	SNV	Uncertain significance	360033	rs547906129	GRCh37: 7:31014104-31014104 GRCh38: 7:30974489-30974489

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

⁷² (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

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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:

#	Super pathways	Score	Top Affiliating Genes
1	G-protein signaling_RhoA regulation pathway ²³	10.61	GRAP2 GHRH GH1 CACNG7

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:0016020	10.03	TMEM181 PIRT PAQR6 PAQR4 MRGPRX1 MRGPRF
2	plasma membrane	GO:0005886	9.73	PIRT PAQR6 MRGPRX1 MRGPRF MRGPRE GRB10
3	integral component of membrane	GO:0016021	9.5	TMEM181 PIRT PAQR6 PAQR4 MRGPRX1 MRGPRF

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

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	9.91	MRGPRX1 MRGPRF MRGPRE GRB10 GPRC5C GPR149
2	G protein-coupled receptor signaling pathway	GO:0007186	9.56	MRGPRX1 MRGPRF MRGPRE GPRC5C GPR149 GPR139
3	negative regulation of osteoclast differentiation	GO:0045671	9.48	GPR137B GPR137
4	positive regulation of TORC1 signaling	GO:1904263	9.46	GPR137B GPR137
5	negative regulation of bone resorption	GO:0045779	9.43	GPR137B GPR137
6	positive regulation of hormone secretion	GO:0046887	9.4	GHRHR GHRH
7	positive regulation of growth hormone secretion	GO:0060124	9.37	GHRHR GHRH
8	positive regulation of multicellular organism growth	GO:0040018	9.33	GHRHR GHRH GH1
9	adenohypophysis development	GO:0021984	9.32	GHRHR GHRH
10	positive regulation of insulin-like growth factor receptor signaling pathway	GO:0043568	8.8	GHRHR GHRH GH1

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	9.17	MRGPRX1 MRGPRF MRGPRE GPRC5C GPR149 GPR139

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 EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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:

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

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

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Sources for Isolated Growth Hormone Deficiency, Type Ib