Steatocystoma multiplex: genes and variants
Steatocystoma multiplex is linked to 1 analyzed protein (KRT17). 4 DNA variants are known to cause it; 3 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 Steatocystoma multiplex
KRT17: Keratin, type I cytoskeletal 17
It supports structural integrity of nail beds, hair follicles, glands, and stressed epithelia and also influences epithelial growth responses. Dominant pathogenic variants cause pachyonychia congenita and steatocystoma multiplex.
4 disease-causing and 3 uncertain variants in KRT17 are linked to Steatocystoma multiplex.
Known disease-causing variants in Steatocystoma multiplex
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT17 N92S | 92 | IF rod | Disease-causing (★★) |
| KRT17 R94H | 94 | IF rod | Disease-causing (★★) |
| KRT17 R94C | 94 | IF rod | Disease-causing |
| KRT17 N92H | 92 | IF rod | Disease-causing |
Same protein, different disease
- Pachyonychia congenita is also caused by KRT17 variants; they fall partly in the same places as the Steatocystoma multiplex variants (7 disease-causing).
Diseases related to Steatocystoma multiplex
- Pachyonychia congenita, also linked to KRT17
Frequently asked questions
Which genes are linked to Steatocystoma multiplex?
In CATVariant, Steatocystoma multiplex is linked to 1 analyzed protein: KRT17 (Keratin, type I cytoskeletal 17).
How many genetic variants are linked to Steatocystoma multiplex?
7 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Steatocystoma multiplex 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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