short stature due to GHSR deficiency
Findings
No curated finding names short stature due to GHSR deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.
Definition from the Mondo Disease Ontology (MONDO:0014403), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal painHPOHP:0002027
- Very frequent (80% to 99% of cases)
- Decreased body weightHPOHP:0004325
- Very frequent (80% to 99% of cases)
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- HypoglycemiaHPOHP:0001943
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GHSRHGNC:4267
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Semidominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: short stature due to GHSR deficiency
- Also called
- ghrelin receptor deficiencyshort stature due to growth hormone secretagogue receptor deficiency