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hereditary sensory neuropathy type 1E
Summary
- Synonym
-
- HSN1E
- hereditary sensory neuropathy type IE
- 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.
- Super Class
- autosomal dominant disease hereditary sensory neuropathy
External Links
- Disease Ontology
- DOID:0070158
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P26358 | DNA (cytosine-5)-methyltransferase 1 |
