MCID: GRW023
MIFTS: 28

Growth Hormone Deficiency, Isolated Partial

Categories: Genetic diseases, Endocrine 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 57 75
Ghdp 57 75
Short Stature Due to Growth Hormone Secretagogue Receptor Deficiency 59
Short Stature Due to Ghsr Deficiency 59
Short Stature, Idiopathic, Autosomal 73
Ghrelin Receptor Deficiency 59
Dwarfism, Pituitary 44

Characteristics:

Orphanet epidemiological data:

59
short stature due to ghsr deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
growth hormone deficiency, isolated partial:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Growth Hormone Deficiency, Isolated Partial

UniProtKB/Swiss-Prot : 75 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 pituitary hormone deficiency, combined, 3 and isolated growth hormone deficiency. 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 pituitary hormone deficiency, combined, 3 11.1
2 isolated growth hormone deficiency 11.1
3 isolated growth hormone deficiency, type ia 11.0
4 dwarfism 9.7
5 growth hormone insensitivity, partial 9.2 GHR GHSR
6 body mass index quantitative trait locus 11 9.0 GHR GHSR

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



Diseases related to Growth Hormone Deficiency, Isolated Partial

Symptoms & Phenotypes for Growth Hormone Deficiency, Isolated Partial

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Growth Hormone Deficiency, Isolated Partial:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 59 32 occasional (7.5%) Very frequent (99-80%) HP:0002750
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
4 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
5 hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001943
6 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
7 decreased body weight 59 32 hallmark (90%) Very frequent (99-80%) HP:0004325
8 decreased serum insulin-like growth factor 1 59 32 hallmark (90%) Very frequent (99-80%) HP:0030353
9 ketosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001946
10 growth delay 59 Very frequent (99-80%)
11 postnatal growth retardation 32 HP:0008897
12 growth hormone deficiency 32 HP:0000824
13 small pituitary gland 32 occasional (7.5%) HP:0012506
14 abnormality of body weight 59 Frequent (79-30%)

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

46
# 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

Cochrane evidence based reviews: dwarfism, pituitary

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:

41
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:

75
# 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 84)
# 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 NM_000163.4(GHR): c.497G> A (p.Gly166Glu) single nucleotide variant Uncertain significance rs761856079 GRCh37 Chromosome 5, 42699983: 42699983
14 GHR NM_000163.4(GHR): c.497G> A (p.Gly166Glu) single nucleotide variant Uncertain significance rs761856079 GRCh38 Chromosome 5, 42699881: 42699881
15 GHR NM_000163.4(GHR): c.559T> C (p.Trp187Arg) single nucleotide variant Pathogenic rs886037910 GRCh37 Chromosome 5, 42700045: 42700045
16 GHR NM_000163.4(GHR): c.559T> C (p.Trp187Arg) single nucleotide variant Pathogenic rs886037910 GRCh38 Chromosome 5, 42699943: 42699943
17 GHSR NM_198407.2(GHSR): c.477G> A (p.Arg159=) single nucleotide variant Benign rs572169 GRCh37 Chromosome 3, 172165727: 172165727
18 GHSR NM_198407.2(GHSR): c.477G> A (p.Arg159=) single nucleotide variant Benign rs572169 GRCh38 Chromosome 3, 172447937: 172447937
19 GHSR NM_198407.2(GHSR): c.171C> T (p.Gly57=) single nucleotide variant Benign rs495225 GRCh38 Chromosome 3, 172448243: 172448243
20 GHSR NM_198407.2(GHSR): c.171C> T (p.Gly57=) single nucleotide variant Benign rs495225 GRCh37 Chromosome 3, 172166033: 172166033
21 GHSR NM_198407.2(GHSR): c.*1608C> T single nucleotide variant Uncertain significance rs886058179 GRCh38 Chromosome 3, 172443553: 172443553
22 GHSR NM_198407.2(GHSR): c.*1608C> T single nucleotide variant Uncertain significance rs886058179 GRCh37 Chromosome 3, 172161343: 172161343
23 GHSR NM_198407.2(GHSR): c.*1506C> A single nucleotide variant Uncertain significance rs886058180 GRCh38 Chromosome 3, 172443655: 172443655
24 GHSR NM_198407.2(GHSR): c.*1506C> A single nucleotide variant Uncertain significance rs886058180 GRCh37 Chromosome 3, 172161445: 172161445
25 GHSR NM_198407.2(GHSR): c.*834C> A single nucleotide variant Benign rs565105 GRCh38 Chromosome 3, 172444327: 172444327
26 GHSR NM_198407.2(GHSR): c.*834C> A single nucleotide variant Benign rs565105 GRCh37 Chromosome 3, 172162117: 172162117
27 GHSR NM_198407.2(GHSR): c.*813A> G single nucleotide variant Uncertain significance rs147683685 GRCh38 Chromosome 3, 172444348: 172444348
28 GHSR NM_198407.2(GHSR): c.*813A> G single nucleotide variant Uncertain significance rs147683685 GRCh37 Chromosome 3, 172162138: 172162138
29 GHSR NM_198407.2(GHSR): c.*796A> T single nucleotide variant Likely benign rs58550930 GRCh38 Chromosome 3, 172444365: 172444365
30 GHSR NM_198407.2(GHSR): c.*796A> T single nucleotide variant Likely benign rs58550930 GRCh37 Chromosome 3, 172162155: 172162155
31 GHSR NM_198407.2(GHSR): c.*758G> A single nucleotide variant Uncertain significance rs886058183 GRCh38 Chromosome 3, 172444403: 172444403
32 GHSR NM_198407.2(GHSR): c.*758G> A single nucleotide variant Uncertain significance rs886058183 GRCh37 Chromosome 3, 172162193: 172162193
33 GHSR NM_198407.2(GHSR): c.*472C> T single nucleotide variant Uncertain significance rs886058184 GRCh38 Chromosome 3, 172444689: 172444689
34 GHSR NM_198407.2(GHSR): c.*472C> T single nucleotide variant Uncertain significance rs886058184 GRCh37 Chromosome 3, 172162479: 172162479
35 GHSR NM_198407.2(GHSR): c.1017A> G (p.Gly339=) single nucleotide variant Uncertain significance rs138507814 GRCh38 Chromosome 3, 172445245: 172445245
36 GHSR NM_198407.2(GHSR): c.1017A> G (p.Gly339=) single nucleotide variant Uncertain significance rs138507814 GRCh37 Chromosome 3, 172163035: 172163035
37 GHSR NM_198407.2(GHSR): c.271C> T (p.Leu91Phe) single nucleotide variant Uncertain significance rs79053943 GRCh37 Chromosome 3, 172165933: 172165933
38 GHSR NM_198407.2(GHSR): c.271C> T (p.Leu91Phe) single nucleotide variant Uncertain significance rs79053943 GRCh38 Chromosome 3, 172448143: 172448143
39 GHSR NM_198407.2(GHSR): c.60C> T (p.Asp20=) single nucleotide variant Likely benign rs2232165 GRCh37 Chromosome 3, 172166144: 172166144
40 GHSR NM_198407.2(GHSR): c.60C> T (p.Asp20=) single nucleotide variant Likely benign rs2232165 GRCh38 Chromosome 3, 172448354: 172448354
41 GHSR NM_198407.2(GHSR): c.*1832G> A single nucleotide variant Uncertain significance rs886058178 GRCh38 Chromosome 3, 172443329: 172443329
42 GHSR NM_198407.2(GHSR): c.*1832G> A single nucleotide variant Uncertain significance rs886058178 GRCh37 Chromosome 3, 172161119: 172161119
43 GHSR NM_198407.2(GHSR): c.*1676_*1679delGATA deletion Likely benign rs150657222 GRCh38 Chromosome 3, 172443482: 172443485
44 GHSR NM_198407.2(GHSR): c.*1676_*1679delGATA deletion Likely benign rs150657222 GRCh37 Chromosome 3, 172161272: 172161275
45 GHSR NM_198407.2(GHSR): c.*1345G> T single nucleotide variant Uncertain significance rs886058181 GRCh38 Chromosome 3, 172443816: 172443816
46 GHSR NM_198407.2(GHSR): c.*1345G> T single nucleotide variant Uncertain significance rs886058181 GRCh37 Chromosome 3, 172161606: 172161606
47 GHSR NM_198407.2(GHSR): c.*1024G> C single nucleotide variant Likely benign rs9880206 GRCh38 Chromosome 3, 172444137: 172444137
48 GHSR NM_198407.2(GHSR): c.*1024G> C single nucleotide variant Likely benign rs9880206 GRCh37 Chromosome 3, 172161927: 172161927
49 GHSR NM_198407.2(GHSR): c.*842T> A single nucleotide variant Uncertain significance rs886058182 GRCh38 Chromosome 3, 172444319: 172444319
50 GHSR NM_198407.2(GHSR): c.*842T> A single nucleotide variant Uncertain significance rs886058182 GRCh37 Chromosome 3, 172162109: 172162109

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

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
35 ICD9CM
36 IUPHAR
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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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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