hereditary sensory neuropathy-deafness-dementia syndrome
Findings
No curated finding names hereditary sensory neuropathy-deafness-dementia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A 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.
Definition from the Mondo Disease Ontology (MONDO:0013584), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DementiaHPOHP:0000726
- 18 of 18 reported patients · Adult onset
- Sensory neuropathyHPOHP:0000763
- 18 of 18 reported patients
- AtaxiaHPOHP:0001251
- 4 of 18 reported patients
- Distal muscle weaknessHPOHP:0002460
- 2 of 18 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DNMT1HGNC:2976
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: hereditary sensory neuropathy-deafness-dementia syndrome
- Also called
- Hereditary Sensory and Autonomic Neuropathy Type 1Ehereditary sensory neuropathy-sensorineural hearing loss-dementia syndromeHSAN1EHSN1E