Hereditary sensory neuropathy-deafness-dementia syndrome: genes and variants
Hereditary sensory neuropathy-deafness-dementia syndrome is linked to 1 analyzed protein (DNMT1). 3 DNA variants are known to cause it; 483 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 Hereditary sensory neuropathy-deafness-dementia syndrome
DNMT1: DNA (cytosine-5)-methyltransferase 1
It copies existing DNA methylation patterns during replication and also contributes to chromatin regulation and neuronal maintenance. Dominant pathogenic variants can cause hereditary sensory neuropathy with dementia and hearing loss or a cerebellar ataxia-deafness-narcolepsy syndrome.
3 disease-causing and 483 uncertain variants in DNMT1 are linked to Hereditary sensory neuropathy-deafness-dementia syndrome.
Known disease-causing variants in Hereditary sensory neuropathy-deafness-dementia syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DNMT1 Y495C | 495 | RFTS | Disease-causing (★★) |
| DNMT1 Y524S | 524 | RFTS | Disease-causing (★) |
| DNMT1 G760E | 760 | BAH 1 | Disease-causing (★) |
Same protein, different disease
- Autosomal dominant cerebellar ataxia, deafness and narcolepsy is also caused by DNMT1 variants; they fall mostly in different places as the Hereditary sensory neuropathy-deafness-dementia syndrome variants (5 disease-causing).
Diseases related to Hereditary sensory neuropathy-deafness-dementia syndrome
- Acute myeloid leukemia, also linked to DNMT1
- Spastic ataxia, also linked to DNMT1
- Autosomal dominant cerebellar ataxia, deafness and narcolepsy, also linked to DNMT1
- Myelodysplastic syndrome, also linked to DNMT1
- Pituitary stalk interruption syndrome, also linked to DNMT1
Frequently asked questions
Which genes are linked to Hereditary sensory neuropathy-deafness-dementia syndrome?
In CATVariant, Hereditary sensory neuropathy-deafness-dementia syndrome is linked to 1 analyzed protein: DNMT1 (DNA (cytosine-5)-methyltransferase 1).
How many genetic variants are linked to Hereditary sensory neuropathy-deafness-dementia syndrome?
522 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 483 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hereditary sensory neuropathy-deafness-dementia syndrome 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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