MCID: GRW026
MIFTS: 26

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 57 75
Increased Responsiveness to Growth Hormone 57 13 6
Ghip 57 75
Short Stature Due to Partial Growth Hormone Receptor Deficiency 59
Hormone, Growth, Deficiency, Isolated Partial 40
Short Stature Due to Partial Ghr Deficiency 59
Isolated Partial Growth Hormone Deficiency 75
Short Stature, Idiopathic, Autosomal 73
Partial Ighd 75

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
dominant, pseudoautosomal


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 604271
Orphanet 59 ORPHA314802
ICD10 via Orphanet 34 E34.3
MedGen 42 C1858656
MeSH 44 D004393
UMLS 73 C1858656

Summaries for Growth Hormone Insensitivity, Partial

UniProtKB/Swiss-Prot : 75 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 syringomyelia and growth hormone deficiency. An important gene associated with Growth Hormone Insensitivity, Partial is GHR (Growth Hormone Receptor). Related phenotypes are delayed puberty and delayed skeletal maturation

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 syringomyelia 9.8
2 growth hormone deficiency 9.8
3 growth hormone deficiency, isolated partial 9.2 GHR GHSR
4 body mass index quantitative trait locus 11 9.0 GHR GHSR

Symptoms & Phenotypes for Growth Hormone Insensitivity, Partial

Symptoms via clinical synopsis from OMIM:

57
Growth:
short stature


Clinical features from OMIM:

604271

Human phenotypes related to Growth Hormone Insensitivity, Partial:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
2 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
3 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
5 midface retrusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0011800
6 decreased serum insulin-like growth factor 1 59 32 hallmark (90%) Very frequent (99-80%) HP:0030353
7 growth delay 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Growth Hormone Insensitivity, Partial:

46
# 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

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:

75
# 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 85)
# 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 GHR NM_000163.4(GHR): c.184G> A (p.Glu62Lys) single nucleotide variant Pathogenic rs121909361 GRCh37 Chromosome 5, 42689039: 42689039
6 GHR NM_000163.4(GHR): c.184G> A (p.Glu62Lys) single nucleotide variant Pathogenic rs121909361 GRCh38 Chromosome 5, 42688937: 42688937
7 GHR NM_000163.4(GHR): c.726G> C (p.Glu242Asp) single nucleotide variant Pathogenic rs45588036 GRCh37 Chromosome 5, 42711416: 42711416
8 GHR NM_000163.4(GHR): c.726G> C (p.Glu242Asp) single nucleotide variant Pathogenic rs45588036 GRCh38 Chromosome 5, 42711314: 42711314
9 GHR NM_000163.4(GHR): c.876_945del single nucleotide variant Pathogenic rs730880308 GRCh38 Chromosome 5, 42718051: 42718051
10 GHR NM_000163.4(GHR): c.876_945del single nucleotide variant Pathogenic rs730880308 GRCh37 Chromosome 5, 42718153: 42718153
11 GHR NM_000163.4(GHR): c.484G> A (p.Val162Ile) single nucleotide variant Pathogenic rs6413484 GRCh37 Chromosome 5, 42699970: 42699970
12 GHR NM_000163.4(GHR): c.484G> A (p.Val162Ile) single nucleotide variant Pathogenic rs6413484 GRCh38 Chromosome 5, 42699868: 42699868
13 GHR GHR, EX3DEL deletion Pathogenic
14 GHR NM_000163.4(GHR): c.497G> A (p.Gly166Glu) single nucleotide variant Uncertain significance rs761856079 GRCh37 Chromosome 5, 42699983: 42699983
15 GHR NM_000163.4(GHR): c.497G> A (p.Gly166Glu) single nucleotide variant Uncertain significance rs761856079 GRCh38 Chromosome 5, 42699881: 42699881
16 GHR NM_000163.4(GHR): c.559T> C (p.Trp187Arg) single nucleotide variant Pathogenic rs886037910 GRCh37 Chromosome 5, 42700045: 42700045
17 GHR NM_000163.4(GHR): c.559T> C (p.Trp187Arg) single nucleotide variant Pathogenic rs886037910 GRCh38 Chromosome 5, 42699943: 42699943
18 GHSR NM_198407.2(GHSR): c.477G> A (p.Arg159=) single nucleotide variant Benign rs572169 GRCh37 Chromosome 3, 172165727: 172165727
19 GHSR NM_198407.2(GHSR): c.477G> A (p.Arg159=) single nucleotide variant Benign rs572169 GRCh38 Chromosome 3, 172447937: 172447937
20 GHSR NM_198407.2(GHSR): c.171C> T (p.Gly57=) single nucleotide variant Benign rs495225 GRCh38 Chromosome 3, 172448243: 172448243
21 GHSR NM_198407.2(GHSR): c.171C> T (p.Gly57=) single nucleotide variant Benign rs495225 GRCh37 Chromosome 3, 172166033: 172166033
22 GHSR NM_198407.2(GHSR): c.*1608C> T single nucleotide variant Uncertain significance rs886058179 GRCh38 Chromosome 3, 172443553: 172443553
23 GHSR NM_198407.2(GHSR): c.*1608C> T single nucleotide variant Uncertain significance rs886058179 GRCh37 Chromosome 3, 172161343: 172161343
24 GHSR NM_198407.2(GHSR): c.*1506C> A single nucleotide variant Uncertain significance rs886058180 GRCh38 Chromosome 3, 172443655: 172443655
25 GHSR NM_198407.2(GHSR): c.*1506C> A single nucleotide variant Uncertain significance rs886058180 GRCh37 Chromosome 3, 172161445: 172161445
26 GHSR NM_198407.2(GHSR): c.*834C> A single nucleotide variant Benign rs565105 GRCh38 Chromosome 3, 172444327: 172444327
27 GHSR NM_198407.2(GHSR): c.*834C> A single nucleotide variant Benign rs565105 GRCh37 Chromosome 3, 172162117: 172162117
28 GHSR NM_198407.2(GHSR): c.*813A> G single nucleotide variant Uncertain significance rs147683685 GRCh38 Chromosome 3, 172444348: 172444348
29 GHSR NM_198407.2(GHSR): c.*813A> G single nucleotide variant Uncertain significance rs147683685 GRCh37 Chromosome 3, 172162138: 172162138
30 GHSR NM_198407.2(GHSR): c.*796A> T single nucleotide variant Likely benign rs58550930 GRCh38 Chromosome 3, 172444365: 172444365
31 GHSR NM_198407.2(GHSR): c.*796A> T single nucleotide variant Likely benign rs58550930 GRCh37 Chromosome 3, 172162155: 172162155
32 GHSR NM_198407.2(GHSR): c.*758G> A single nucleotide variant Uncertain significance rs886058183 GRCh38 Chromosome 3, 172444403: 172444403
33 GHSR NM_198407.2(GHSR): c.*758G> A single nucleotide variant Uncertain significance rs886058183 GRCh37 Chromosome 3, 172162193: 172162193
34 GHSR NM_198407.2(GHSR): c.*472C> T single nucleotide variant Uncertain significance rs886058184 GRCh38 Chromosome 3, 172444689: 172444689
35 GHSR NM_198407.2(GHSR): c.*472C> T single nucleotide variant Uncertain significance rs886058184 GRCh37 Chromosome 3, 172162479: 172162479
36 GHSR NM_198407.2(GHSR): c.1017A> G (p.Gly339=) single nucleotide variant Uncertain significance rs138507814 GRCh38 Chromosome 3, 172445245: 172445245
37 GHSR NM_198407.2(GHSR): c.1017A> G (p.Gly339=) single nucleotide variant Uncertain significance rs138507814 GRCh37 Chromosome 3, 172163035: 172163035
38 GHSR NM_198407.2(GHSR): c.271C> T (p.Leu91Phe) single nucleotide variant Uncertain significance rs79053943 GRCh37 Chromosome 3, 172165933: 172165933
39 GHSR NM_198407.2(GHSR): c.271C> T (p.Leu91Phe) single nucleotide variant Uncertain significance rs79053943 GRCh38 Chromosome 3, 172448143: 172448143
40 GHSR NM_198407.2(GHSR): c.60C> T (p.Asp20=) single nucleotide variant Likely benign rs2232165 GRCh37 Chromosome 3, 172166144: 172166144
41 GHSR NM_198407.2(GHSR): c.60C> T (p.Asp20=) single nucleotide variant Likely benign rs2232165 GRCh38 Chromosome 3, 172448354: 172448354
42 GHSR NM_198407.2(GHSR): c.*1832G> A single nucleotide variant Uncertain significance rs886058178 GRCh38 Chromosome 3, 172443329: 172443329
43 GHSR NM_198407.2(GHSR): c.*1832G> A single nucleotide variant Uncertain significance rs886058178 GRCh37 Chromosome 3, 172161119: 172161119
44 GHSR NM_198407.2(GHSR): c.*1676_*1679delGATA deletion Likely benign rs150657222 GRCh38 Chromosome 3, 172443482: 172443485
45 GHSR NM_198407.2(GHSR): c.*1676_*1679delGATA deletion Likely benign rs150657222 GRCh37 Chromosome 3, 172161272: 172161275
46 GHSR NM_198407.2(GHSR): c.*1345G> T single nucleotide variant Uncertain significance rs886058181 GRCh38 Chromosome 3, 172443816: 172443816
47 GHSR NM_198407.2(GHSR): c.*1345G> T single nucleotide variant Uncertain significance rs886058181 GRCh37 Chromosome 3, 172161606: 172161606
48 GHSR NM_198407.2(GHSR): c.*1024G> C single nucleotide variant Likely benign rs9880206 GRCh38 Chromosome 3, 172444137: 172444137
49 GHSR NM_198407.2(GHSR): c.*1024G> C single nucleotide variant Likely benign rs9880206 GRCh37 Chromosome 3, 172161927: 172161927
50 GHSR NM_198407.2(GHSR): c.*842T> A single nucleotide variant Uncertain significance rs886058182 GRCh38 Chromosome 3, 172444319: 172444319

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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