GHDP
MCID: GRW023
MIFTS: 27

Growth Hormone Deficiency, Isolated Partial (GHDP)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Growth Hormone Deficiency, Isolated Partial

MalaCards integrated aliases for Growth Hormone Deficiency, Isolated Partial:

Name: Growth Hormone Deficiency, Isolated Partial 58 76
Ghdp 58 76
Short Stature Due to Growth Hormone Secretagogue Receptor Deficiency 60
Short Stature Due to Ghsr Deficiency 60
Short Stature, Idiopathic, Autosomal 74
Ghrelin Receptor Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
short stature due to ghsr deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
patients with homozygous, compound heterozygous, and heterozygous mutation have been reported
incompletely penetrant phenotype in heterozygotes
positive response to treatment with growth hormone


HPO:

33
growth hormone deficiency, isolated partial:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Growth Hormone Deficiency, Isolated Partial

UniProtKB/Swiss-Prot : 76 Growth hormone deficiency, isolated partial: A disorder characterized by partial growth hormone deficiency resulting in growth delay and short stature, sometimes associated with recurrent episodes of abdominal pain, vomiting, ketosis and hypoglycemia.

MalaCards based summary : Growth Hormone Deficiency, Isolated Partial, also known as ghdp, is related to growth hormone insensitivity, partial and body mass index quantitative trait locus 11. An important gene associated with Growth Hormone Deficiency, Isolated Partial is GHSR (Growth Hormone Secretagogue Receptor). Affiliated tissues include pituitary and bone, and related phenotypes are delayed skeletal maturation and short stature

Description from OMIM: 615925

Related Diseases for Growth Hormone Deficiency, Isolated Partial

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

# Related Disease Score Top Affiliating Genes
1 growth hormone insensitivity, partial 9.6 GHR GHSR
2 body mass index quantitative trait locus 11 9.5 GHR GHSR

Symptoms & Phenotypes for Growth Hormone Deficiency, Isolated Partial

Human phenotypes related to Growth Hormone Deficiency, Isolated Partial:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 60 33 occasional (7.5%) Very frequent (99-80%) HP:0002750
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002013
4 hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001943
5 abdominal pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002027
6 decreased body weight 60 33 hallmark (90%) Very frequent (99-80%) HP:0004325
7 decreased serum insulin-like growth factor 1 60 33 hallmark (90%) Very frequent (99-80%) HP:0030353
8 ketosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001946
9 delayed puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000823
10 small pituitary gland 33 occasional (7.5%) HP:0012506
11 growth delay 60 Very frequent (99-80%)
12 postnatal growth retardation 33 HP:0008897
13 growth hormone deficiency 33 HP:0000824
14 abnormality of body weight 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Skeletal:
delayed bone age (in some patients)

Endocrine Features:
partial isolated growth hormone deficiency (ighd)
low levels of insulin-like growth factor i (in most patients)
low growth hormone response

Growth Other:
postnatal growth delay

Neurologic Central Nervous System:
subnormal-size pituitary (in some patients)

Clinical features from OMIM:

615925

MGI Mouse Phenotypes related to Growth Hormone Deficiency, Isolated Partial:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 GHR GHSR

Drugs & Therapeutics for Growth Hormone Deficiency, Isolated Partial

Search Clinical Trials , NIH Clinical Center for Growth Hormone Deficiency, Isolated Partial

Genetic Tests for Growth Hormone Deficiency, Isolated Partial

Anatomical Context for Growth Hormone Deficiency, Isolated Partial

MalaCards organs/tissues related to Growth Hormone Deficiency, Isolated Partial:

42
Pituitary, Bone

Publications for Growth Hormone Deficiency, Isolated Partial

Variations for Growth Hormone Deficiency, Isolated Partial

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

76
# Symbol AA change Variation ID SNP ID
1 GHSR p.Ala204Glu VAR_032705 rs121917883
2 GHSR p.Arg237Trp VAR_073173 rs199588904

ClinVar genetic disease variations for Growth Hormone Deficiency, Isolated Partial:

6 (show top 50) (show all 90)
# 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 NM_000163.4(GHR): c.497G> A (p.Gly166Glu) single nucleotide variant Uncertain significance rs761856079 GRCh37 Chromosome 5, 42699983: 42699983
18 GHR NM_000163.4(GHR): c.497G> A (p.Gly166Glu) single nucleotide variant Uncertain significance rs761856079 GRCh38 Chromosome 5, 42699881: 42699881
19 GHR NM_000163.4(GHR): c.559T> C (p.Trp187Arg) single nucleotide variant Pathogenic rs886037910 GRCh37 Chromosome 5, 42700045: 42700045
20 GHR NM_000163.4(GHR): c.559T> C (p.Trp187Arg) single nucleotide variant Pathogenic rs886037910 GRCh38 Chromosome 5, 42699943: 42699943
21 GHSR NM_198407.2(GHSR): c.477G> A (p.Arg159=) single nucleotide variant Benign rs572169 GRCh37 Chromosome 3, 172165727: 172165727
22 GHSR NM_198407.2(GHSR): c.477G> A (p.Arg159=) single nucleotide variant Benign rs572169 GRCh38 Chromosome 3, 172447937: 172447937
23 GHSR NM_198407.2(GHSR): c.171C> T (p.Gly57=) single nucleotide variant Benign rs495225 GRCh38 Chromosome 3, 172448243: 172448243
24 GHSR NM_198407.2(GHSR): c.171C> T (p.Gly57=) single nucleotide variant Benign rs495225 GRCh37 Chromosome 3, 172166033: 172166033
25 GHR NM_000163.4(GHR): c.686G> A (p.Arg229His) single nucleotide variant Conflicting interpretations of pathogenicity rs6177 GRCh37 Chromosome 5, 42711376: 42711376
26 GHR NM_000163.4(GHR): c.686G> A (p.Arg229His) single nucleotide variant Conflicting interpretations of pathogenicity rs6177 GRCh38 Chromosome 5, 42711274: 42711274
27 GHSR NM_198407.2(GHSR): c.*1608C> T single nucleotide variant Uncertain significance rs886058179 GRCh38 Chromosome 3, 172443553: 172443553
28 GHSR NM_198407.2(GHSR): c.*1608C> T single nucleotide variant Uncertain significance rs886058179 GRCh37 Chromosome 3, 172161343: 172161343
29 GHSR NM_198407.2(GHSR): c.*1506C> A single nucleotide variant Uncertain significance rs886058180 GRCh38 Chromosome 3, 172443655: 172443655
30 GHSR NM_198407.2(GHSR): c.*1506C> A single nucleotide variant Uncertain significance rs886058180 GRCh37 Chromosome 3, 172161445: 172161445
31 GHSR NM_198407.2(GHSR): c.*834C> A single nucleotide variant Benign rs565105 GRCh38 Chromosome 3, 172444327: 172444327
32 GHSR NM_198407.2(GHSR): c.*834C> A single nucleotide variant Benign rs565105 GRCh37 Chromosome 3, 172162117: 172162117
33 GHSR NM_198407.2(GHSR): c.*813A> G single nucleotide variant Uncertain significance rs147683685 GRCh38 Chromosome 3, 172444348: 172444348
34 GHSR NM_198407.2(GHSR): c.*813A> G single nucleotide variant Uncertain significance rs147683685 GRCh37 Chromosome 3, 172162138: 172162138
35 GHSR NM_198407.2(GHSR): c.*796A> T single nucleotide variant Likely benign rs58550930 GRCh38 Chromosome 3, 172444365: 172444365
36 GHSR NM_198407.2(GHSR): c.*796A> T single nucleotide variant Likely benign rs58550930 GRCh37 Chromosome 3, 172162155: 172162155
37 GHSR NM_198407.2(GHSR): c.*758G> A single nucleotide variant Uncertain significance rs886058183 GRCh38 Chromosome 3, 172444403: 172444403
38 GHSR NM_198407.2(GHSR): c.*758G> A single nucleotide variant Uncertain significance rs886058183 GRCh37 Chromosome 3, 172162193: 172162193
39 GHSR NM_198407.2(GHSR): c.*472C> T single nucleotide variant Uncertain significance rs886058184 GRCh38 Chromosome 3, 172444689: 172444689
40 GHSR NM_198407.2(GHSR): c.*472C> T single nucleotide variant Uncertain significance rs886058184 GRCh37 Chromosome 3, 172162479: 172162479
41 GHSR NM_198407.2(GHSR): c.1017A> G (p.Gly339=) single nucleotide variant Uncertain significance rs138507814 GRCh38 Chromosome 3, 172445245: 172445245
42 GHSR NM_198407.2(GHSR): c.1017A> G (p.Gly339=) single nucleotide variant Uncertain significance rs138507814 GRCh37 Chromosome 3, 172163035: 172163035
43 GHSR NM_198407.2(GHSR): c.271C> T (p.Leu91Phe) single nucleotide variant Uncertain significance rs79053943 GRCh38 Chromosome 3, 172448143: 172448143
44 GHSR NM_198407.2(GHSR): c.271C> T (p.Leu91Phe) single nucleotide variant Uncertain significance rs79053943 GRCh37 Chromosome 3, 172165933: 172165933
45 GHSR NM_198407.2(GHSR): c.60C> T (p.Asp20=) single nucleotide variant Likely benign rs2232165 GRCh38 Chromosome 3, 172448354: 172448354
46 GHSR NM_198407.2(GHSR): c.60C> T (p.Asp20=) single nucleotide variant Likely benign rs2232165 GRCh37 Chromosome 3, 172166144: 172166144
47 GHSR NM_198407.2(GHSR): c.*1832G> A single nucleotide variant Uncertain significance rs886058178 GRCh38 Chromosome 3, 172443329: 172443329
48 GHSR NM_198407.2(GHSR): c.*1832G> A single nucleotide variant Uncertain significance rs886058178 GRCh37 Chromosome 3, 172161119: 172161119
49 GHSR NM_198407.2(GHSR): c.*1676_*1679delGATA deletion Likely benign rs150657222 GRCh38 Chromosome 3, 172443482: 172443485
50 GHSR NM_198407.2(GHSR): c.*1676_*1679delGATA deletion Likely benign rs150657222 GRCh37 Chromosome 3, 172161272: 172161275

Expression for Growth Hormone Deficiency, Isolated Partial

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

Pathways for Growth Hormone Deficiency, Isolated Partial

GO Terms for Growth Hormone Deficiency, Isolated Partial

Cellular components related to Growth Hormone Deficiency, Isolated 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 Deficiency, Isolated 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 Deficiency, Isolated 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 Deficiency, Isolated Partial

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11 DGIdb
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