GHIP
MCID: GRW026
MIFTS: 26

Growth Hormone Insensitivity, Partial (GHIP)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Growth Hormone Insensitivity, Partial

MalaCards integrated aliases for Growth Hormone Insensitivity, Partial:

Name: Growth Hormone Insensitivity, Partial 57 72 6
Increased Responsiveness to Growth Hormone 57 6
Ghip 57 72
Short Stature Due to Partial Growth Hormone Receptor Deficiency 58
Short Stature Due to Partial Ghr Deficiency 58
Isolated Partial Growth Hormone Deficiency 72
Short Stature, Idiopathic, Autosomal 70
Partial Ighd 72

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
respond to growth hormone treatment


HPO:

31
growth hormone insensitivity, partial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

OMIM® 57 604271
MeSH 44 D004393
ICD10 via Orphanet 33 E34.3
Orphanet 58 ORPHA314802
MedGen 41 C1858656
UMLS 70 C1858656

Summaries for Growth Hormone Insensitivity, Partial

UniProtKB/Swiss-Prot : 72 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 increased responsiveness to growth hormone, is related to growth hormone deficiency and slipped capital femoral epiphysis. An important gene associated with Growth Hormone Insensitivity, Partial is GHR (Growth Hormone Receptor). Affiliated tissues include bone, and related phenotypes are delayed skeletal maturation and short stature

More information 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 10.1
2 slipped capital femoral epiphysis 10.1
3 gastrointestinal stromal tumor 10.0

Symptoms & Phenotypes for Growth Hormone Insensitivity, Partial

Human phenotypes related to Growth Hormone Insensitivity, Partial:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 decreased serum insulin-like growth factor 1 58 31 hallmark (90%) Very frequent (99-80%) HP:0030353
4 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
5 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
6 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
7 growth delay 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Laboratory Abnormalities:
low serum concentration of gh-binding protein
below 0 serum igf1

Skeletal:
bone age delay, variable (in some patients)

Clinical features from OMIM®:

604271 (Updated 20-May-2021)

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

Anatomical Context for Growth Hormone Insensitivity, Partial

MalaCards organs/tissues related to Growth Hormone Insensitivity, Partial:

40
Bone

Publications for Growth Hormone Insensitivity, Partial

Articles related to Growth Hormone Insensitivity, Partial:

(show all 24)
# Title Authors PMID Year
1
Influence of the d3-growth hormone (GH) receptor isoform on short-term and long-term treatment response to GH replacement in GH-deficient adults. 57 6
18397980 2008
2
Association of the growth hormone receptor d3-variant and catch-up growth of preterm infants with birth weight of less than 1500 grams. 6 57
17711923 2007
3
A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. 6 57
15208626 2004
4
Growth hormone receptor mutations in children with idiopathic short stature. 6 57
9814495 1998
5
A dominant-negative mutation of the growth hormone receptor causes familial short stature. 6 57
9140387 1997
6
Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group. 57 6
7565946 1995
7
The exon-3 deletion of the growth hormone receptor (GHR) gene still has a limited impact in clinical endocrinology. 57
20056809 2010
8
Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency. 6
18029459 2008
9
Growth hormone (GH) dose, but not exon 3-deleted/full-length GH receptor polymorphism genotypes, influences growth response to two-year GH Therapy in Short Small-for-Gestational-Age Children. 6
17925340 2008
10
The presence of the d3-growth hormone receptor polymorphism is negatively associated with fetal growth but positively associated with postnatal growth in healthy subjects. 6
17426087 2007
11
Relationship of the human growth hormone receptor exon 3 genotype with final adult height and bone mineral density. 6
17090634 2007
12
The d3/fl-growth hormone (GH) receptor polymorphism does not influence the effect of GH treatment (66 microg/kg per day) or the spontaneous growth in short non-GH-deficient small-for-gestational-age children: results from a two-year controlled prospective study in 170 Spanish patients. 6
16804042 2006
13
The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestational-age children. 6
16291706 2006
14
Poor reproducibility of IGF-I and IGF binding protein-3 generation test in children with short stature and normal coding region of the GH receptor gene. 6
11836270 2002
15
Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. 57
10764769 2000
16
Diagnosis and treatment of gastric hamartomatous inverted polyp (GHIP) using a modified combination of laparoscopic and endoscopic approaches to neoplasia with a non-exposure technique (modified CLEAN-NET): a case report. 61
32761395 2020
17
Piloting a Telephone Based Health Coaching Program for Pregnant Women: A Mixed Methods Study. 61
30756280 2019
18
A case of gastric hamartomatous inverted polyp resected endoscopically. 61
27556064 2016
19
GHIP in Streptococcus pneumoniae is involved in antibacterial resistance and elicits a strong innate immune response through TLR2 and JNK/p38MAPK. 61
24989111 2014
20
Two rare gastric hamartomatous inverted polyp cases suggest the pathogenesis of growth. 61
24914354 2014
21
Structural basis of the novel S. pneumoniae virulence factor, GHIP, a glycosyl hydrolase 25 participating in host-cell invasion. 61
23874703 2013
22
Structural basis for inhibition of xyloglucan-specific endo-β-1,4-glucanase (XEG) by XEG-protein inhibitor. 61
22496365 2012
23
Lars Naber en Paul Iske (red.). Zorginnovatie in perspectief. Een collectieve ambitie. Utrecht: GHIP Kennis- en coördinatiecentrum, 2004. ISBN 90-807796-2-8, <euro> 24,50, 1265 p. 61
23203434 2005
24
Good healthcare innovation practice (GHIP)--a network-driven, knowledge-conscious approach for innovation in the (Dutch) healthcare sector. 61
15747931 2004

Variations for Growth Hormone Insensitivity, Partial

ClinVar genetic disease variations for Growth Hormone Insensitivity, Partial:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GHR NM_000163.5(GHR):c.184G>A (p.Glu62Lys) SNV Pathogenic 8636 rs121909361 GRCh37: 5:42689039-42689039
GRCh38: 5:42688937-42688937
2 GHR NM_000163.5(GHR):c.726G>C (p.Glu242Asp) SNV Pathogenic 8638 rs45588036 GRCh37: 5:42711416-42711416
GRCh38: 5:42711314-42711314
3 GHR NM_000163.5(GHR):c.876-1G>C SNV Pathogenic 8646 rs730880308 GRCh37: 5:42718153-42718153
GRCh38: 5:42718051-42718051
4 GHR NM_000163.5(GHR):c.559T>C (p.Trp187Arg) SNV Pathogenic 254180 rs886037910 GRCh37: 5:42700045-42700045
GRCh38: 5:42699943-42699943
5 GHR GHR, EX3DEL Deletion Pathogenic 8661 GRCh37:
GRCh38:
6 GHR NM_000163.5(GHR):c.535C>T (p.Arg179Cys) SNV Pathogenic 8637 rs121909362 GRCh37: 5:42700021-42700021
GRCh38: 5:42699919-42699919
7 GHR NM_000163.5(GHR):c.484G>A (p.Val162Ile) SNV Pathogenic 8652 rs6413484 GRCh37: 5:42699970-42699970
GRCh38: 5:42699868-42699868
8 GHR NM_000163.5(GHR):c.535C>T (p.Arg179Cys) SNV Uncertain significance 8637 rs121909362 GRCh37: 5:42700021-42700021
GRCh38: 5:42699919-42699919
9 GHR NM_000163.5(GHR):c.686G>A (p.Arg229His) SNV Uncertain significance 281656 rs6177 GRCh37: 5:42711376-42711376
GRCh38: 5:42711274-42711274
10 GHR NM_000163.5(GHR):c.535C>T (p.Arg179Cys) SNV Uncertain significance 8637 rs121909362 GRCh37: 5:42700021-42700021
GRCh38: 5:42699919-42699919
11 GHR NM_000163.5(GHR):c.718T>C (p.Tyr240His) SNV Uncertain significance 198398 rs143814221 GRCh37: 5:42711408-42711408
GRCh38: 5:42711306-42711306
12 GHSR NM_198407.2(GHSR):c.*1554C>T SNV Uncertain significance 344177 rs754352155 GRCh37: 3:172161397-172161397
GRCh38: 3:172443607-172443607
13 GHR NM_000163.5(GHR):c.497G>A (p.Gly166Glu) SNV Uncertain significance 225374 rs761856079 GRCh37: 5:42699983-42699983
GRCh38: 5:42699881-42699881
14 GHR NM_000163.5(GHR):c.1003G>A (p.Glu335Lys) SNV Uncertain significance 930323 GRCh37: 5:42718612-42718612
GRCh38: 5:42718510-42718510
15 LOC107963950 , GHR NM_000163.5(GHR):c.-12+643G>A SNV Uncertain significance 931622 GRCh37: 5:42424700-42424700
GRCh38: 5:42424598-42424598
16 GHSR NM_198407.2(GHSR):c.*1676_*1679del Deletion Likely benign 344175 rs150657222 GRCh37: 3:172161272-172161275
GRCh38: 3:172443482-172443485
17 GHSR NM_198407.2(GHSR):c.*1880delA Deletion Benign 369417 rs5854471 GRCh37: 3:172161071-172161071
GRCh38: 3:172443281-172443281
18 GHSR NM_198407.2(GHSR):c.*561_*568del Deletion Benign 344192 rs146582211 GRCh37: 3:172162383-172162390
GRCh38: 3:172444593-172444600

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

72
# Symbol AA change Variation ID SNP ID
1 GHR p.Glu62Lys VAR_002708 rs121909361
2 GHR p.Arg179Cys VAR_002714 rs121909362

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

Sources for Growth Hormone Insensitivity, Partial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....