hereditary sensory neuropathy type 1E

Term ID

DOID:0070158

Synonyms

• hereditary sensory neuropathy type IE
• HSN1E

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. https://www.ncbi.nlm.nih.gov/pubmed/21532572

References

• GARD:11927
• ICD10CM:G60.8
• OMIM:614116
• ORDO:456318

Ontology

Human Disease   ( DOID:0070158 )