Growth hormone insensitivity syndrome with immune dysregulation: genes and variants
Growth hormone insensitivity syndrome with immune dysregulation is linked to 1 analyzed protein (STAT5B). 3 DNA variants are known to cause it; 13 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
Genes linked to Growth hormone insensitivity syndrome with immune dysregulation
STAT5B: Signal transducer and activator of transcription 5B
It carries signals from growth hormone and multiple cytokines into transcriptional programs controlling growth, immune regulation, and lymphocyte survival. Loss-of-function variants cause growth-hormone insensitivity with immune dysregulation, whereas activating somatic variants can drive hematologic malignancy.
3 disease-causing and 13 uncertain variants in STAT5B are linked to Growth hormone insensitivity syndrome with immune dysregulation.
Known disease-causing variants in Growth hormone insensitivity syndrome with immune dysregulation
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| STAT5B K632N | 632 | SH2 | Disease-causing (★) |
| STAT5B Q177P | 177 | Disease-causing | |
| STAT5B Q474R | 474 | Disease-causing |
Diseases related to Growth hormone insensitivity syndrome with immune dysregulation
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, also linked to STAT5B
Frequently asked questions
Which genes are linked to Growth hormone insensitivity syndrome with immune dysregulation?
In CATVariant, Growth hormone insensitivity syndrome with immune dysregulation is linked to 1 analyzed protein: STAT5B (Signal transducer and activator of transcription 5B).
How many genetic variants are linked to Growth hormone insensitivity syndrome with immune dysregulation?
18 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 13 are of uncertain significance or have conflicting reports.
Which uncertain variants in Growth hormone insensitivity syndrome with immune dysregulation look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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