Ichthyosis linearis circumflexa: genes and variants
Ichthyosis linearis circumflexa is linked to 1 analyzed protein (SPINK5). 1 DNA variants are known to cause it; 210 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 Ichthyosis linearis circumflexa
SPINK5: Serine protease inhibitor Kazal-type 5
Its processed inhibitory domains restrain epidermal serine proteases and protect the skin barrier from excessive proteolysis and inflammation. Biallelic loss-of-function variants cause Netherton syndrome with ichthyosis, hair-shaft defects, severe atopy, and infection risk.
1 disease-causing and 210 uncertain variants in SPINK5 are linked to Ichthyosis linearis circumflexa.
Known disease-causing variants in Ichthyosis linearis circumflexa
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SPINK5 T808I | 808 | Kazal-like 12 | Disease-causing (★★) |
Diseases related to Ichthyosis linearis circumflexa
- Netherton syndrome, also linked to SPINK5
Frequently asked questions
Which genes are linked to Ichthyosis linearis circumflexa?
In CATVariant, Ichthyosis linearis circumflexa is linked to 1 analyzed protein: SPINK5 (Serine protease inhibitor Kazal-type 5).
How many genetic variants are linked to Ichthyosis linearis circumflexa?
265 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 210 are of uncertain significance or have conflicting reports.
Which uncertain variants in Ichthyosis linearis circumflexa 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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