GHIP
MCID: GRW026
MIFTS: 31

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 58 76
Increased Responsiveness to Growth Hormone 58 6
Ghip 58 76
Short Stature Due to Partial Growth Hormone Receptor Deficiency 60
Hormone, Growth, Deficiency, Isolated Partial 41
Short Stature Due to Partial Ghr Deficiency 60
Isolated Partial Growth Hormone Deficiency 76
Short Stature, Idiopathic, Autosomal 74
Partial Ighd 76

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
respond to growth hormone treatment


Classifications:

Orphanet: 60  
Rare endocrine diseases


External Ids:

OMIM 58 604271
MeSH 45 D004393
ICD10 via Orphanet 35 E34.3
Orphanet 60 ORPHA314802
MedGen 43 C1858656
UMLS 74 C1858656

Summaries for Growth Hormone Insensitivity, Partial

UniProtKB/Swiss-Prot : 76 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, isolated partial and syringomyelia. An important gene associated with Growth Hormone Insensitivity, Partial is GHR (Growth Hormone Receptor). Affiliated tissues include bone and testes, and related phenotypes are delayed skeletal maturation and short stature

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 31.6 GHR GHSR
2 syringomyelia 9.9
3 growth hormone deficiency 9.9
4 slipped capital femoral epiphysis 9.9
5 epiphysiolysis of the hip 9.9
6 body mass index quantitative trait locus 11 9.5 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

Human phenotypes related to Growth Hormone Insensitivity, Partial:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 decreased serum insulin-like growth factor 1 60 33 hallmark (90%) Very frequent (99-80%) HP:0030353
4 delayed puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000823
5 hypoglycemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001943
6 midface retrusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0011800
7 growth delay 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Growth Hormone Insensitivity, Partial:

47
# 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

Anatomical Context for Growth Hormone Insensitivity, Partial

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

42
Bone, Testes

Publications for Growth Hormone Insensitivity, Partial

Articles related to Growth Hormone Insensitivity, Partial:

(show all 20)
# Title Authors Year
1
GHIP in Streptococcus pneumoniae is involved in antibacterial resistance and elicits a strong innate immune response through TLR2 and JNK/p38MAPK. ( 24989111 )
2014
2
Structural basis of the novel S. pneumoniae virulence factor, GHIP, a glycosyl hydrolase 25 participating in host-cell invasion. ( 23874703 )
2013
3
Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor. ( 19789204 )
2009
4
Influence of the d3-growth hormone (GH) receptor isoform on short-term and long-term treatment response to GH replacement in GH-deficient adults. ( 18397980 )
2008
5
The exon 3-deleted/full-length growth hormone receptor polymorphism does not influence the effect of puberty or growth hormone therapy on glucose homeostasis in short non-growth hormone-deficient small-for-gestational-age children: results from a two-year controlled prospective study. ( 18445665 )
2008
6
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. ( 17925340 )
2008
7
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. ( 18029459 )
2008
8
Association of the growth hormone receptor d3-variant and catch-up growth of preterm infants with birth weight of less than 1500 grams. ( 17711923 )
2007
9
The presence of the d3-growth hormone receptor polymorphism is negatively associated with fetal growth but positively associated with postnatal growth in healthy subjects. ( 17426087 )
2007
10
Relationship of the human growth hormone receptor exon 3 genotype with final adult height and bone mineral density. ( 17090634 )
2007
11
The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestational-age children. ( 16291706 )
2006
12
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. ( 16511605 )
2006
13
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. ( 16804042 )
2006
14
Good healthcare innovation practice (GHIP)--a network-driven, knowledge-conscious approach for innovation in the (Dutch) healthcare sector. ( 15747931 )
2004
15
A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. ( 15208626 )
2004
16
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. ( 11836270 )
2002
17
Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. ( 10764769 )
2000
18
Growth hormone receptor mutations in children with idiopathic short stature. ( 9814495 )
1998
19
A dominant-negative mutation of the growth hormone receptor causes familial short stature. ( 9140387 )
1997
20
Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group. ( 7565946 )
1995

Variations for Growth Hormone Insensitivity, Partial

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

76
# 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 (show top 50) (show all 91)
# Gene Variation Type Significance SNP ID Assembly Location
1 GHSR NM_198407.2(GHSR): c.611C> A (p.Ala204Glu) single nucleotide variant Likely pathogenic rs121917883 GRCh37 Chromosome 3, 172165593: 172165593
2 GHSR NM_198407.2(GHSR): c.611C> A (p.Ala204Glu) single nucleotide variant Likely pathogenic rs121917883 GRCh38 Chromosome 3, 172447803: 172447803
3 GHSR NM_198407.2(GHSR): c.6G> A (p.Trp2Ter) single nucleotide variant Pathogenic rs267606843 GRCh37 Chromosome 3, 172166198: 172166198
4 GHSR NM_198407.2(GHSR): c.6G> A (p.Trp2Ter) single nucleotide variant Pathogenic rs267606843 GRCh38 Chromosome 3, 172448408: 172448408
5 GHSR NM_198407.2(GHSR): c.709A> T (p.Arg237Trp) single nucleotide variant Uncertain significance rs199588904 GRCh37 Chromosome 3, 172165495: 172165495
6 GHSR NM_198407.2(GHSR): c.709A> T (p.Arg237Trp) single nucleotide variant Uncertain significance rs199588904 GRCh38 Chromosome 3, 172447705: 172447705
7 GHR NM_000163.4(GHR): c.184G> A (p.Glu62Lys) single nucleotide variant Pathogenic rs121909361 GRCh37 Chromosome 5, 42689039: 42689039
8 GHR NM_000163.4(GHR): c.184G> A (p.Glu62Lys) single nucleotide variant Pathogenic rs121909361 GRCh38 Chromosome 5, 42688937: 42688937
9 GHR NM_000163.4(GHR): c.535C> T (p.Arg179Cys) single nucleotide variant Uncertain significance rs121909362 GRCh37 Chromosome 5, 42700021: 42700021
10 GHR NM_000163.4(GHR): c.535C> T (p.Arg179Cys) single nucleotide variant Uncertain significance rs121909362 GRCh38 Chromosome 5, 42699919: 42699919
11 GHR NM_000163.4(GHR): c.726G> C (p.Glu242Asp) single nucleotide variant Pathogenic rs45588036 GRCh37 Chromosome 5, 42711416: 42711416
12 GHR NM_000163.4(GHR): c.726G> C (p.Glu242Asp) single nucleotide variant Pathogenic rs45588036 GRCh38 Chromosome 5, 42711314: 42711314
13 GHR NM_000163.4(GHR): c.876_945del single nucleotide variant Pathogenic rs730880308 GRCh38 Chromosome 5, 42718051: 42718051
14 GHR NM_000163.4(GHR): c.876_945del single nucleotide variant Pathogenic rs730880308 GRCh37 Chromosome 5, 42718153: 42718153
15 GHR NM_000163.4(GHR): c.484G> A (p.Val162Ile) single nucleotide variant Benign rs6413484 GRCh37 Chromosome 5, 42699970: 42699970
16 GHR NM_000163.4(GHR): c.484G> A (p.Val162Ile) single nucleotide variant Benign rs6413484 GRCh38 Chromosome 5, 42699868: 42699868
17 GHR GHR, EX3DEL deletion Pathogenic
18 GHR NM_000163.4(GHR): c.497G> A (p.Gly166Glu) single nucleotide variant Uncertain significance rs761856079 GRCh37 Chromosome 5, 42699983: 42699983
19 GHR NM_000163.4(GHR): c.497G> A (p.Gly166Glu) single nucleotide variant Uncertain significance rs761856079 GRCh38 Chromosome 5, 42699881: 42699881
20 GHR NM_000163.4(GHR): c.559T> C (p.Trp187Arg) single nucleotide variant Pathogenic rs886037910 GRCh37 Chromosome 5, 42700045: 42700045
21 GHR NM_000163.4(GHR): c.559T> C (p.Trp187Arg) single nucleotide variant Pathogenic rs886037910 GRCh38 Chromosome 5, 42699943: 42699943
22 GHSR NM_198407.2(GHSR): c.477G> A (p.Arg159=) single nucleotide variant Benign rs572169 GRCh37 Chromosome 3, 172165727: 172165727
23 GHSR NM_198407.2(GHSR): c.477G> A (p.Arg159=) single nucleotide variant Benign rs572169 GRCh38 Chromosome 3, 172447937: 172447937
24 GHSR NM_198407.2(GHSR): c.171C> T (p.Gly57=) single nucleotide variant Benign rs495225 GRCh38 Chromosome 3, 172448243: 172448243
25 GHSR NM_198407.2(GHSR): c.171C> T (p.Gly57=) single nucleotide variant Benign rs495225 GRCh37 Chromosome 3, 172166033: 172166033
26 GHR NM_000163.4(GHR): c.686G> A (p.Arg229His) single nucleotide variant Conflicting interpretations of pathogenicity rs6177 GRCh37 Chromosome 5, 42711376: 42711376
27 GHR NM_000163.4(GHR): c.686G> A (p.Arg229His) single nucleotide variant Conflicting interpretations of pathogenicity rs6177 GRCh38 Chromosome 5, 42711274: 42711274
28 GHSR NM_198407.2(GHSR): c.*1608C> T single nucleotide variant Uncertain significance rs886058179 GRCh38 Chromosome 3, 172443553: 172443553
29 GHSR NM_198407.2(GHSR): c.*1608C> T single nucleotide variant Uncertain significance rs886058179 GRCh37 Chromosome 3, 172161343: 172161343
30 GHSR NM_198407.2(GHSR): c.*1506C> A single nucleotide variant Uncertain significance rs886058180 GRCh38 Chromosome 3, 172443655: 172443655
31 GHSR NM_198407.2(GHSR): c.*1506C> A single nucleotide variant Uncertain significance rs886058180 GRCh37 Chromosome 3, 172161445: 172161445
32 GHSR NM_198407.2(GHSR): c.*834C> A single nucleotide variant Benign rs565105 GRCh38 Chromosome 3, 172444327: 172444327
33 GHSR NM_198407.2(GHSR): c.*834C> A single nucleotide variant Benign rs565105 GRCh37 Chromosome 3, 172162117: 172162117
34 GHSR NM_198407.2(GHSR): c.*813A> G single nucleotide variant Uncertain significance rs147683685 GRCh38 Chromosome 3, 172444348: 172444348
35 GHSR NM_198407.2(GHSR): c.*813A> G single nucleotide variant Uncertain significance rs147683685 GRCh37 Chromosome 3, 172162138: 172162138
36 GHSR NM_198407.2(GHSR): c.*796A> T single nucleotide variant Likely benign rs58550930 GRCh38 Chromosome 3, 172444365: 172444365
37 GHSR NM_198407.2(GHSR): c.*796A> T single nucleotide variant Likely benign rs58550930 GRCh37 Chromosome 3, 172162155: 172162155
38 GHSR NM_198407.2(GHSR): c.*758G> A single nucleotide variant Uncertain significance rs886058183 GRCh38 Chromosome 3, 172444403: 172444403
39 GHSR NM_198407.2(GHSR): c.*758G> A single nucleotide variant Uncertain significance rs886058183 GRCh37 Chromosome 3, 172162193: 172162193
40 GHSR NM_198407.2(GHSR): c.*472C> T single nucleotide variant Uncertain significance rs886058184 GRCh38 Chromosome 3, 172444689: 172444689
41 GHSR NM_198407.2(GHSR): c.*472C> T single nucleotide variant Uncertain significance rs886058184 GRCh37 Chromosome 3, 172162479: 172162479
42 GHSR NM_198407.2(GHSR): c.1017A> G (p.Gly339=) single nucleotide variant Uncertain significance rs138507814 GRCh38 Chromosome 3, 172445245: 172445245
43 GHSR NM_198407.2(GHSR): c.1017A> G (p.Gly339=) single nucleotide variant Uncertain significance rs138507814 GRCh37 Chromosome 3, 172163035: 172163035
44 GHSR NM_198407.2(GHSR): c.271C> T (p.Leu91Phe) single nucleotide variant Uncertain significance rs79053943 GRCh38 Chromosome 3, 172448143: 172448143
45 GHSR NM_198407.2(GHSR): c.271C> T (p.Leu91Phe) single nucleotide variant Uncertain significance rs79053943 GRCh37 Chromosome 3, 172165933: 172165933
46 GHSR NM_198407.2(GHSR): c.60C> T (p.Asp20=) single nucleotide variant Likely benign rs2232165 GRCh38 Chromosome 3, 172448354: 172448354
47 GHSR NM_198407.2(GHSR): c.60C> T (p.Asp20=) single nucleotide variant Likely benign rs2232165 GRCh37 Chromosome 3, 172166144: 172166144
48 GHSR NM_198407.2(GHSR): c.*1832G> A single nucleotide variant Uncertain significance rs886058178 GRCh38 Chromosome 3, 172443329: 172443329
49 GHSR NM_198407.2(GHSR): c.*1832G> A single nucleotide variant Uncertain significance rs886058178 GRCh37 Chromosome 3, 172161119: 172161119
50 GHSR NM_198407.2(GHSR): c.*1676_*1679delGATA deletion Likely benign rs150657222 GRCh38 Chromosome 3, 172443482: 172443485

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 hormone-mediated signaling pathway GO:0009755 9.26 GHR GHSR
4 positive regulation of multicellular organism growth GO:0040018 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
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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