IGHD4
MCID: ISL123
MIFTS: 16

Isolated Growth Hormone Deficiency, Type Iv (IGHD4)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Isolated Growth Hormone Deficiency, Type Iv

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

Name: Isolated Growth Hormone Deficiency, Type Iv 58 76 6
Growth Hormone Deficiency, Isolated, Type Iv 58 76
Dwarfism of Sindh 58 76
Ighd4 58 76
Isolated Growth Hormone Deficiency, Type Ib, Formerly; Ighd1b, Formerly 58
Isolated Growth Hormone Deficiency, Type Ib, Formerly 58
Growth Hormone Deficiency, Isolated, 4 76
Ighd1b, Formerly 58

Classifications:



External Ids:

OMIM 58 618157
MeSH 45 D004393

Summaries for Isolated Growth Hormone Deficiency, Type Iv

OMIM : 58 IGHD type IV is an autosomal recessive disorder characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations, and a good response to growth hormone treatment (summary by Alatzoglou et al., 2014). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400. (618157)

MalaCards based summary : Isolated Growth Hormone Deficiency, Type Iv, also known as growth hormone deficiency, isolated, type iv, is related to isolated growth hormone deficiency, type ib and dwarfism. An important gene associated with Isolated Growth Hormone Deficiency, Type Iv is GHRHR (Growth Hormone Releasing Hormone Receptor). Affiliated tissues include bone and testes.

UniProtKB/Swiss-Prot : 76 Growth hormone deficiency, isolated, 4: An autosomal recessive deficiency of growth hormone leading to early and severe growth failure and 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.

Related Diseases for Isolated Growth Hormone Deficiency, Type Iv

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

# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ib 11.5
2 dwarfism 10.1

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency, Type Iv

Clinical features from OMIM:

618157

Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Iv

Search Clinical Trials , NIH Clinical Center for Isolated Growth Hormone Deficiency, Type Iv

Genetic Tests for Isolated Growth Hormone Deficiency, Type Iv

Anatomical Context for Isolated Growth Hormone Deficiency, Type Iv

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

42
Bone, Testes

Publications for Isolated Growth Hormone Deficiency, Type Iv

Articles related to Isolated Growth Hormone Deficiency, Type Iv:

# Title Authors Year
1
Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh. ( 9814493 )
1998

Variations for Isolated Growth Hormone Deficiency, Type Iv

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

76
# Symbol AA change Variation ID SNP ID
1 GHRHR p.Leu144His VAR_015796 rs121918118
2 GHRHR p.Ala176Val VAR_015797 rs774281185
3 GHRHR p.Ala222Glu VAR_015798 rs121918120
4 GHRHR p.Phe242Cys VAR_015799 rs121918119
5 GHRHR p.Lys329Glu VAR_015800 rs121918121

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 GHRHR NM_000823.3(GHRHR): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs121918117 GRCh37 Chromosome 7, 31008731: 31008731
2 GHRHR NM_000823.3(GHRHR): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs121918117 GRCh38 Chromosome 7, 30969116: 30969116
3 GHRHR GHRHR, IVS1DS, G-A, +1 single nucleotide variant Pathogenic
4 GHRHR NM_000823.3(GHRHR): c.431T> A (p.Leu144His) single nucleotide variant Pathogenic rs121918118 GRCh37 Chromosome 7, 31010798: 31010798
5 GHRHR NM_000823.3(GHRHR): c.431T> A (p.Leu144His) single nucleotide variant Pathogenic rs121918118 GRCh38 Chromosome 7, 30971183: 30971183
6 GHRHR NM_000823.3(GHRHR): c.725T> G (p.Phe242Cys) single nucleotide variant Pathogenic rs121918119 GRCh37 Chromosome 7, 31013727: 31013727
7 GHRHR NM_000823.3(GHRHR): c.725T> G (p.Phe242Cys) single nucleotide variant Pathogenic rs121918119 GRCh38 Chromosome 7, 30974112: 30974112
8 GHRHR NM_000823.3(GHRHR): c.665C> A (p.Ala222Glu) single nucleotide variant Pathogenic rs121918120 GRCh37 Chromosome 7, 31013667: 31013667
9 GHRHR NM_000823.3(GHRHR): c.665C> A (p.Ala222Glu) single nucleotide variant Pathogenic rs121918120 GRCh38 Chromosome 7, 30974052: 30974052
10 GHRHR NM_000823.3(GHRHR): c.985A> G (p.Lys329Glu) single nucleotide variant Pathogenic rs121918121 GRCh37 Chromosome 7, 31016054: 31016054
11 GHRHR NM_000823.3(GHRHR): c.985A> G (p.Lys329Glu) single nucleotide variant Pathogenic rs121918121 GRCh38 Chromosome 7, 30976439: 30976439
12 GHRHR GHRHR, -124A-C, PROMOTER single nucleotide variant Pathogenic

Expression for Isolated Growth Hormone Deficiency, Type Iv

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

Pathways for Isolated Growth Hormone Deficiency, Type Iv

GO Terms for Isolated Growth Hormone Deficiency, Type Iv

Sources for Isolated Growth Hormone Deficiency, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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