short stature due to partial GHR deficiency
Findings
No curated finding names short stature due to partial GHR deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.
Definition from the Mondo Disease Ontology (MONDO:0011420), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Short statureHPOHP:0004322
- 4 of 4 reported patients
- 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)
- Delayed pubertyHPOHP:0000823
- Occasional (5% to 29% of cases)
- HypoglycemiaHPOHP:0001943
- Occasional (5% to 29% 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.
- GHRHGNC:4263
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Unknown · 2021
Where it sits
Other names
1 name
Resolves to: short stature due to partial GHR deficiency
- Also called
- short stature due to partial growth hormone receptor deficiency