Growth hormone insensitivity with immune dysregulation 1, autosomal recessive: genes and variants
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive is linked to 1 analyzed protein (STAT5B). 3 DNA variants are known to cause it; 179 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
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 179 uncertain variants in STAT5B are linked to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive.
Known disease-causing variants in Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| STAT5B Q177P | 177 | Disease-causing | |
| STAT5B Q474R | 474 | Disease-causing | |
| STAT5B A630P | 630 | SH2 | Disease-causing |
Diseases related to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Growth hormone insensitivity syndrome with immune dysregulation, also linked to STAT5B
Frequently asked questions
Which genes are linked to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive?
In CATVariant, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive is linked to 1 analyzed protein: STAT5B (Signal transducer and activator of transcription 5B).
How many genetic variants are linked to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive?
198 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 179 are of uncertain significance or have conflicting reports.
Which uncertain variants in Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center