MCID: GRW026
MIFTS: 24

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 54 24 71
Ghip 24 71
Short Stature Due to Partial Growth Hormone Receptor Deficiency 56
Short Stature Due to Partial Ghr Deficiency 56
Isolated Partial Growth Hormone Deficiency 71
Short Stature, Idiopathic, Autosomal 69
Partial Ighd 71

Characteristics:

Orphanet epidemiological data:

56

OMIM:

54
Inheritance:
dominant, pseudoautosomal


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 604271
Orphanet 56 ORPHA314802
ICD10 via Orphanet 34 E34.3
MedGen 40 C1858656
MeSH 42 D004393

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 ghip, is related to growth hormone deficiency, isolated partial and keratosis, seborrheic, somatic, and has symptoms including short stature, hypoglycemia and delayed puberty. 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:

id Related Disease Score Top Affiliating Genes
1 growth hormone deficiency, isolated partial 10.9
2 keratosis, seborrheic, somatic 9.5 GHR GHSR
3 von hippel-lindau syndrome 9.5 GHR GHSR
4 epileptic encephalopathy, early infantile, 24 9.4 GHR GHSR
5 thrombophilia 9.2 GHR GHSR

Graphical network of the top 20 diseases related to Growth Hormone Insensitivity, Partial:



Diseases related to Growth Hormone Insensitivity, Partial

Symptoms & Phenotypes for Growth Hormone Insensitivity, Partial

Symptoms via clinical synopsis from OMIM:

54

Growth:
short stature


Clinical features from OMIM:

604271

Human phenotypes related to Growth Hormone Insensitivity, Partial:

56 32 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 hypoglycemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001943
3 delayed puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000823
4 midface retrusion 56 32 occasional (7.5%) Occasional (29-5%) HP:0011800
5 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
6 decreased serum insulin-like growth factor 1 56 32 hallmark (90%) Very frequent (99-80%) HP:0030353
7 growth delay 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Growth Hormone Insensitivity, Partial:

44
id 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:

id Genetic test Affiliating Genes
1 Growth Hormone Insensitivity, Partial 24 GHR

Anatomical Context for Growth Hormone Insensitivity, Partial

Publications for Growth Hormone Insensitivity, Partial

Variations for Growth Hormone Insensitivity, Partial

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 GHSR NM_198407.2(GHSR): c.611C> A (p.Ala204Glu) single nucleotide variant Pathogenic rs121917883 GRCh37 Chromosome 3, 172165593: 172165593
2 GHSR NM_198407.2(GHSR): c.6G> A (p.Trp2Ter) single nucleotide variant Pathogenic rs267606843 GRCh37 Chromosome 3, 172166198: 172166198
3 GHR NM_000163.4(GHR): c.184G> A (p.Glu62Lys) single nucleotide variant Pathogenic rs121909361 GRCh37 Chromosome 5, 42689039: 42689039
4 GHR NM_000163.4(GHR): c.726G> C (p.Glu242Asp) single nucleotide variant Pathogenic rs45588036 GRCh37 Chromosome 5, 42711416: 42711416
5 GHR NM_000163.4(GHR): c.876_945del single nucleotide variant Pathogenic rs730880308 GRCh38 Chromosome 5, 42718051: 42718051
6 GHR NM_000163.4(GHR): c.484G> A (p.Val162Ile) single nucleotide variant Pathogenic rs6413484 GRCh37 Chromosome 5, 42699970: 42699970
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:

id 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:

id 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 8.32 GHR

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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