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hereditary sensory neuropathy-deafness-dementia syndrome

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description 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.
Uniprot Description A neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0013584:  hereditary sensory neuropathy-deafness-dementia syndrome
GARD:0011927: 
MESH:C580162: 
Orphanet:456318: 
UMLS:C3279885: