Isolated anhidrosis with normal sweat glands: genes and variants
Isolated anhidrosis with normal sweat glands is linked to 1 analyzed protein (ITPR2). 1 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 Isolated anhidrosis with normal sweat glands
ITPR2: Inositol 1,4,5-trisphosphate-gated calcium channel ITPR2
1 disease-causing and 3 uncertain variants in ITPR2 are linked to Isolated anhidrosis with normal sweat glands.
Known disease-causing variants in Isolated anhidrosis with normal sweat glands
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ITPR2 G2498S | 2498 | Extracellular | Disease-causing |
Frequently asked questions
Which genes are linked to Isolated anhidrosis with normal sweat glands?
In CATVariant, Isolated anhidrosis with normal sweat glands is linked to 1 analyzed protein: ITPR2 (Inositol 1,4,5-trisphosphate-gated calcium channel ITPR2).
How many genetic variants are linked to Isolated anhidrosis with normal sweat glands?
6 variants: 1 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 Isolated anhidrosis with normal sweat glands 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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