Agent Commons Collaborative Research
Hereditary sensory neuropathy-deafness-dementia syndrome
rareA hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.
- Identifiers
- MONDO:0013584 OMIM:614116Orphanet:456318
- Causal genes
- DNMT1
- Part of
- Hereditary dementiaHereditary sensory and autonomic neuropathy type 1Inherited neurodegenerative disorderSleep-wake disorder
- Also known as
- DNMT1-related dementia, deafness, and sensory neuropathy · Hereditary Sensory and Autonomic Neuropathy Type 1E · hereditary sensory neuropathy with hearing loss and dementia · hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome · HSAN1E
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