MCID: GRW026
MIFTS: 27

Growth Hormone Insensitivity, Partial

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Growth Hormone Insensitivity, Partial

MalaCards integrated aliases for Growth Hormone Insensitivity, Partial:

Name: Growth Hormone Insensitivity, Partial 53 71
Short Stature, Idiopathic, Autosomal 69 28
Ghip 53 71
Short Stature Due to Partial Growth Hormone Receptor Deficiency 55
Short Stature Due to Partial Ghr Deficiency 55
Isolated Partial Growth Hormone Deficiency 71
Partial Ighd 71

Characteristics:

Orphanet epidemiological data:

55

OMIM:

53
Inheritance:
dominant, pseudoautosomal


Classifications:

Orphanet: 55  
Rare endocrine diseases


External Ids:

OMIM 53 604271
Orphanet 55 ORPHA314802
ICD10 via Orphanet 33 E34.3
MedGen 39 C1858656
MeSH 41 D004393
UMLS 69 C1858656

Summaries for Growth Hormone Insensitivity, Partial

UniProtKB/Swiss-Prot : 71 Growth hormone insensitivity, partial: A disease characterized by partial resistance to growth hormone resulting in short stature. Short stature is defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well- nourished, healthy, genetically relevant population.

MalaCards based summary : Growth Hormone Insensitivity, Partial, also known as short stature, idiopathic, autosomal, is related to growth hormone deficiency, isolated partial and syringomyelia, and has symptoms including delayed puberty, delayed skeletal maturation and short stature. An important gene associated with Growth Hormone Insensitivity, Partial is GHR (Growth Hormone Receptor). Related phenotype is adipose tissue.

Description from OMIM: 604271

Related Diseases for Growth Hormone Insensitivity, Partial

Diseases related to Growth Hormone Insensitivity, Partial via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 growth hormone deficiency, isolated partial 31.2 GHR GHSR
2 syringomyelia 9.8
3 growth hormone deficiency 9.8
4 body mass index quantitative trait locus 11 9.4 GHR GHSR

Symptoms & Phenotypes for Growth Hormone Insensitivity, Partial

Symptoms via clinical synopsis from OMIM:

53
Growth:
short stature


Clinical features from OMIM:

604271

Human phenotypes related to Growth Hormone Insensitivity, Partial:

55 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
2 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
3 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 hypoglycemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001943
5 midface retrusion 55 31 occasional (7.5%) Occasional (29-5%) HP:0011800
6 decreased serum insulin-like growth factor 1 55 31 hallmark (90%) Very frequent (99-80%) HP:0030353
7 growth delay 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Growth Hormone Insensitivity, Partial:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 GHR GHSR

Drugs & Therapeutics for Growth Hormone Insensitivity, Partial

Search Clinical Trials , NIH Clinical Center for Growth Hormone Insensitivity, Partial

Genetic Tests for Growth Hormone Insensitivity, Partial

Genetic tests related to Growth Hormone Insensitivity, Partial:

# Genetic test Affiliating Genes
1 Short Stature, Idiopathic, Autosomal 28

Anatomical Context for Growth Hormone Insensitivity, Partial

Publications for Growth Hormone Insensitivity, Partial

Articles related to Growth Hormone Insensitivity, Partial:

# Title Authors Year
1
Isolated partial growth hormone deficient short stature with syringomyelia not associated with birth injury. ( 9745853 )
1998

Variations for Growth Hormone Insensitivity, Partial

UniProtKB/Swiss-Prot genetic disease variations for Growth Hormone Insensitivity, Partial:

71
# Symbol AA change Variation ID SNP ID
1 GHR p.Glu62Lys VAR_002708 rs121909361
2 GHR p.Arg179Cys VAR_002714 rs121909362

ClinVar genetic disease variations for Growth Hormone Insensitivity, Partial:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GHR NM_000163.4(GHR): c.184G> A (p.Glu62Lys) single nucleotide variant Pathogenic rs121909361 GRCh37 Chromosome 5, 42689039: 42689039
2 GHR NM_000163.4(GHR): c.726G> C (p.Glu242Asp) single nucleotide variant Pathogenic rs45588036 GRCh37 Chromosome 5, 42711416: 42711416
3 GHR NM_000163.4(GHR): c.876_945del single nucleotide variant Pathogenic rs730880308 GRCh38 Chromosome 5, 42718051: 42718051
4 GHR NM_000163.4(GHR): c.484G> A (p.Val162Ile) single nucleotide variant Pathogenic rs6413484 GRCh37 Chromosome 5, 42699970: 42699970
5 GHSR NM_198407.2(GHSR): c.611C> A (p.Ala204Glu) single nucleotide variant Pathogenic rs121917883 GRCh37 Chromosome 3, 172165593: 172165593
6 GHSR NM_198407.2(GHSR): c.6G> A (p.Trp2Ter) single nucleotide variant Pathogenic rs267606843 GRCh37 Chromosome 3, 172166198: 172166198
7 GHR NM_000163.4(GHR): c.559T> C (p.Trp187Arg) single nucleotide variant Pathogenic rs886037910 GRCh37 Chromosome 5, 42700045: 42700045

Expression for Growth Hormone Insensitivity, Partial

Search GEO for disease gene expression data for Growth Hormone Insensitivity, Partial.

Pathways for Growth Hormone Insensitivity, Partial

GO Terms for Growth Hormone Insensitivity, Partial

Cellular components related to Growth Hormone Insensitivity, Partial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.62 GHR GHSR

Biological processes related to Growth Hormone Insensitivity, Partial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to insulin stimulus GO:0032869 9.37 GHR GHSR
2 response to hormone GO:0009725 9.32 GHR GHSR
3 positive regulation of multicellular organism growth GO:0040018 9.26 GHR GHSR
4 hormone-mediated signaling pathway GO:0009755 9.16 GHR GHSR
5 response to food GO:0032094 8.96 GHR GHSR
6 response to growth hormone GO:0060416 8.62 GHR GHSR

Molecular functions related to Growth Hormone Insensitivity, Partial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide hormone binding GO:0017046 8.62 GHR GHSR

Sources for Growth Hormone Insensitivity, Partial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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