GHDP
MCID: GRW023
MIFTS: 34

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 57 72 6
Short Stature Due to Growth Hormone Secretagogue Receptor Deficiency 58 29 6
Ghdp 57 72
Hormone, Growth, Deficiency, Isolated Partial 39
Short Stature Due to Ghsr Deficiency 58
Short Stature, Idiopathic, Autosomal 70
Ghrelin Receptor Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
short stature due to ghsr deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
growth hormone deficiency, isolated partial:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Growth Hormone Deficiency, Isolated Partial

UniProtKB/Swiss-Prot : 72 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 short stature due to growth hormone secretagogue receptor deficiency, is related to atherosclerosis susceptibility and acromegaly. An important gene associated with Growth Hormone Deficiency, Isolated Partial is GHSR (Growth Hormone Secretagogue Receptor), and among its related pathways/superpathways is Relaxin signaling pathway. Affiliated tissues include pituitary and bone, and related phenotypes are delayed skeletal maturation and short stature

More information 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 atherosclerosis susceptibility 9.9
2 acromegaly 9.7 GHSR GHR
3 anorexia nervosa 9.7 GHSR GHR
4 pituitary adenoma 9.6 GHSR GHR
5 isolated growth hormone deficiency 9.6 GHSR GHR
6 body mass index quantitative trait locus 11 9.5 GHSR GHR

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

Human phenotypes related to Growth Hormone Deficiency, Isolated Partial:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 occasional (7.5%) Very frequent (99-80%) HP:0002750
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
4 hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001943
5 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
6 decreased body weight 58 31 hallmark (90%) Very frequent (99-80%) HP:0004325
7 decreased serum insulin-like growth factor 1 58 31 hallmark (90%) Very frequent (99-80%) HP:0030353
8 ketosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001946
9 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
10 small pituitary gland 31 occasional (7.5%) HP:0012506
11 growth delay 58 Very frequent (99-80%)
12 postnatal growth retardation 31 HP:0008897
13 abnormality of body weight 58 Frequent (79-30%)
14 decreased response to growth hormone stimuation test 31 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Genetic tests related to Growth Hormone Deficiency, Isolated Partial:

# Genetic test Affiliating Genes
1 Short Stature Due to Growth Hormone Secretagogue Receptor Deficiency 29 GHSR

Anatomical Context for Growth Hormone Deficiency, Isolated Partial

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

40
Pituitary, Bone

Publications for Growth Hormone Deficiency, Isolated Partial

Articles related to Growth Hormone Deficiency, Isolated Partial:

# Title Authors PMID Year
1
Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor. 6 57
19789204 2009
2
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. 57 6
16511605 2006
3
Growth hormone receptor mutations in children with idiopathic short stature. 6
9814495 1998
4
A dominant-negative mutation of the growth hormone receptor causes familial short stature. 6
9140387 1997
5
Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group. 6
7565946 1995
6
[The use of a biosynthetic human growth hormone in children with a growth hormone deficiency]. 61
8442866 1993

Variations for Growth Hormone Deficiency, Isolated Partial

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

6 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GHSR NM_198407.2(GHSR):c.6G>A (p.Trp2Ter) SNV Pathogenic 7633 rs267606843 GRCh37: 3:172166198-172166198
GRCh38: 3:172448408-172448408
2 GHR NM_000163.5(GHR):c.184G>A (p.Glu62Lys) SNV Pathogenic 8636 rs121909361 GRCh37: 5:42689039-42689039
GRCh38: 5:42688937-42688937
3 GHR NM_000163.5(GHR):c.726G>C (p.Glu242Asp) SNV Pathogenic 8638 rs45588036 GRCh37: 5:42711416-42711416
GRCh38: 5:42711314-42711314
4 GHR NM_000163.5(GHR):c.876-1G>C SNV Pathogenic 8646 rs730880308 GRCh37: 5:42718153-42718153
GRCh38: 5:42718051-42718051
5 GHR NM_000163.5(GHR):c.559T>C (p.Trp187Arg) SNV Pathogenic 254180 rs886037910 GRCh37: 5:42700045-42700045
GRCh38: 5:42699943-42699943
6 GHSR NM_198407.2(GHSR):c.611C>A (p.Ala204Glu) SNV Pathogenic 7632 rs121917883 GRCh37: 3:172165593-172165593
GRCh38: 3:172447803-172447803
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 Pathogenic 8637 rs121909362 GRCh37: 5:42700021-42700021
GRCh38: 5:42699919-42699919
9 GHR NM_000163.5(GHR):c.535C>T (p.Arg179Cys) SNV Uncertain significance 8637 rs121909362 GRCh37: 5:42700021-42700021
GRCh38: 5:42699919-42699919
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.1072G>A (p.Ala358Thr) SNV Uncertain significance 1033260 GRCh37: 3:172162980-172162980
GRCh38: 3:172445190-172445190
13 GHR NM_000163.5(GHR):c.686G>A (p.Arg229His) SNV Uncertain significance 281656 rs6177 GRCh37: 5:42711376-42711376
GRCh38: 5:42711274-42711274
14 GHSR NM_198407.2(GHSR):c.617G>C (p.Arg206Pro) SNV Uncertain significance 983070 GRCh37: 3:172165587-172165587
GRCh38: 3:172447797-172447797
15 GHSR NM_198407.2(GHSR):c.847C>T (p.Arg283Ter) SNV Uncertain significance 488915 rs148371213 GRCh37: 3:172163205-172163205
GRCh38: 3:172445415-172445415
16 GHSR NM_198407.2(GHSR):c.709A>T (p.Arg237Trp) SNV Uncertain significance 7634 rs199588904 GRCh37: 3:172165495-172165495
GRCh38: 3:172447705-172447705
17 GHR NM_000163.5(GHR):c.1003G>A (p.Glu335Lys) SNV Uncertain significance 930323 GRCh37: 5:42718612-42718612
GRCh38: 5:42718510-42718510
18 LOC107963950 , GHR NM_000163.5(GHR):c.-12+643G>A SNV Uncertain significance 931622 GRCh37: 5:42424700-42424700
GRCh38: 5:42424598-42424598
19 GHSR NM_198407.2(GHSR):c.*5G>A SNV Uncertain significance 902773 GRCh37: 3:172162946-172162946
GRCh38: 3:172445156-172445156
20 GHSR NM_198407.2(GHSR):c.1070G>A (p.Arg357Gln) SNV Uncertain significance 902774 GRCh37: 3:172162982-172162982
GRCh38: 3:172445192-172445192
21 GHSR NM_198407.2(GHSR):c.994G>C (p.Val332Leu) SNV Uncertain significance 902775 GRCh37: 3:172163058-172163058
GRCh38: 3:172445268-172445268
22 GHSR NM_198407.2(GHSR):c.824G>C (p.Cys275Ser) SNV Uncertain significance 902776 GRCh37: 3:172163228-172163228
GRCh38: 3:172445438-172445438
23 GHSR NM_198407.2(GHSR):c.924C>G (p.Ser308=) SNV Uncertain significance 761566 rs145560801 GRCh37: 3:172163128-172163128
GRCh38: 3:172445338-172445338
24 GHSR NM_198407.2(GHSR):c.231C>G (p.Thr77=) SNV Uncertain significance 900228 GRCh37: 3:172165973-172165973
GRCh38: 3:172448183-172448183
25 GHSR NM_198407.2(GHSR):c.*1857G>A SNV Uncertain significance 901263 GRCh37: 3:172161094-172161094
GRCh38: 3:172443304-172443304
26 GHSR NM_198407.2(GHSR):c.*747G>T SNV Uncertain significance 901325 GRCh37: 3:172162204-172162204
GRCh38: 3:172444414-172444414
27 GHSR NM_198407.2(GHSR):c.*676C>T SNV Uncertain significance 901326 GRCh37: 3:172162275-172162275
GRCh38: 3:172444485-172444485
28 GHSR NM_198407.2(GHSR):c.*512A>G SNV Uncertain significance 901327 GRCh37: 3:172162439-172162439
GRCh38: 3:172444649-172444649
29 GHSR NM_198407.2(GHSR):c.124C>G (p.Leu42Val) SNV Uncertain significance 901380 GRCh37: 3:172166080-172166080
GRCh38: 3:172448290-172448290
30 GHSR NM_198407.2(GHSR):c.102G>A (p.Leu34=) SNV Uncertain significance 901381 GRCh37: 3:172166102-172166102
GRCh38: 3:172448312-172448312
31 GHSR NM_198407.2(GHSR):c.84C>T (p.Asp28=) SNV Uncertain significance 901382 GRCh37: 3:172166120-172166120
GRCh38: 3:172448330-172448330
32 GHSR NM_198407.2(GHSR):c.68C>T (p.Ala23Val) SNV Uncertain significance 901383 GRCh37: 3:172166136-172166136
GRCh38: 3:172448346-172448346
33 GHSR NM_198407.2(GHSR):c.*1805G>A SNV Uncertain significance 901802 GRCh37: 3:172161146-172161146
GRCh38: 3:172443356-172443356
34 GHSR NM_198407.2(GHSR):c.*1712T>A SNV Uncertain significance 901806 GRCh37: 3:172161239-172161239
GRCh38: 3:172443449-172443449
35 GHSR NM_198407.2(GHSR):c.*1532C>G SNV Uncertain significance 901807 GRCh37: 3:172161419-172161419
GRCh38: 3:172443629-172443629
36 GHSR NM_198407.2(GHSR):c.*1445A>G SNV Uncertain significance 902707 GRCh37: 3:172161506-172161506
GRCh38: 3:172443716-172443716
37 GHSR NM_198407.2(GHSR):c.*1554C>T SNV Uncertain significance 344177 rs754352155 GRCh37: 3:172161397-172161397
GRCh38: 3:172443607-172443607
38 GHSR NM_198407.2(GHSR):c.*842T>A SNV Uncertain significance 344185 rs886058182 GRCh37: 3:172162109-172162109
GRCh38: 3:172444319-172444319
39 GHSR NM_198407.2(GHSR):c.*300G>A SNV Uncertain significance 344194 rs886058185 GRCh37: 3:172162651-172162651
GRCh38: 3:172444861-172444861
40 GHSR NM_198407.2(GHSR):c.*1815C>G SNV Uncertain significance 344174 rs762604209 GRCh37: 3:172161136-172161136
GRCh38: 3:172443346-172443346
41 GHR NM_000163.5(GHR):c.497G>A (p.Gly166Glu) SNV Uncertain significance 225374 rs761856079 GRCh37: 5:42699983-42699983
GRCh38: 5:42699881-42699881
42 GHSR NM_198407.2(GHSR):c.*758G>A SNV Uncertain significance 344191 rs886058183 GRCh37: 3:172162193-172162193
GRCh38: 3:172444403-172444403
43 GHSR NM_198407.2(GHSR):c.-23G>A SNV Uncertain significance 344203 rs200645708 GRCh37: 3:172166226-172166226
GRCh38: 3:172448436-172448436
44 GHSR NM_198407.2(GHSR):c.*1506C>A SNV Uncertain significance 344178 rs886058180 GRCh37: 3:172161445-172161445
GRCh38: 3:172443655-172443655
45 GHSR NM_198407.2(GHSR):c.*1268T>C SNV Uncertain significance 344181 rs755925335 GRCh37: 3:172161683-172161683
GRCh38: 3:172443893-172443893
46 GHSR NM_198407.2(GHSR):c.1051C>T (p.Leu351=) SNV Uncertain significance 344198 rs777016625 GRCh37: 3:172163001-172163001
GRCh38: 3:172445211-172445211
47 GHSR NM_198407.2(GHSR):c.*472C>T SNV Uncertain significance 344193 rs886058184 GRCh37: 3:172162479-172162479
GRCh38: 3:172444689-172444689
48 GHSR NM_198407.2(GHSR):c.*1608C>T SNV Uncertain significance 344176 rs886058179 GRCh37: 3:172161343-172161343
GRCh38: 3:172443553-172443553
49 GHSR NM_198407.2(GHSR):c.*1832G>A SNV Uncertain significance 344173 rs886058178 GRCh37: 3:172161119-172161119
GRCh38: 3:172443329-172443329
50 GHSR NM_198407.2(GHSR):c.1017A>G (p.Gly339=) SNV Uncertain significance 344199 rs138507814 GRCh37: 3:172163035-172163035
GRCh38: 3:172445245-172445245

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

72
# Symbol AA change Variation ID SNP ID
1 GHSR p.Ala204Glu VAR_032705 rs121917883
2 GHSR p.Arg237Trp VAR_073173 rs199588904

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

Pathways related to Growth Hormone Deficiency, Isolated Partial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.22 GHSR GHR

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 GHSR GHR

Biological processes related to Growth Hormone Deficiency, Isolated Partial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to estradiol GO:0032355 9.4 GHSR GHR
2 cellular response to insulin stimulus GO:0032869 9.37 GHSR GHR
3 response to hormone GO:0009725 9.32 GHSR GHR
4 hormone-mediated signaling pathway GO:0009755 9.26 GHSR GHR
5 positive regulation of multicellular organism growth GO:0040018 9.16 GHSR GHR
6 response to food GO:0032094 8.96 GHSR GHR
7 response to growth hormone GO:0060416 8.62 GHSR GHR

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 GHSR GHR

Sources for Growth Hormone Deficiency, Isolated 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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