growth hormone insensitivity syndrome
Findings
No curated finding names growth hormone insensitivity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.
Definition from the Mondo Disease Ontology (MONDO:0015892), read 2026-09-29. CC BY 4.0.
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.
- STAT5BHGNC:11367
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- Narrower terms (6)
- growth delay due to insulin-like growth factor I resistance
- growth delay due to insulin-like growth factor type 1 deficiency
- growth hormone insensitivity syndrome with immune dysregulation
- Laron syndrome
- short stature due to partial GHR deficiency
- short stature due to primary acid-labile subunit deficiency
Other names
3 names
Resolves to: growth hormone insensitivity syndrome
- Also called
- GHISGrowth hormone insensitivity syndromesshort stature due to a defect in growth hormone receptor or post-receptor pathway