Short stature due to GHSR deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PARTIAL IGHD GROWTH HORMONE, INSENSITIVITY TO, PARTIAL, INCLUDED
GROWTH HORMONE DEFICIENCY, ISOLATED, PARTIAL
Short stature due to growth hormone secretagogue receptor deficiency
Number of Symptoms 1
OrphanetNr: 314811
OMIM Id: 604271
ICD-10: E34.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Nonacquired pituitary hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0004322) Short stature 1232 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM - Mutation in the Growth Hormone Receptor Gene

In 4 of 14 children with idiopathic short stature, Goddard et al. (1995) identified mutations in the GHR gene (600946.0006-600946.0008). One child was compound heterozygous for 2 mutations ...