Details of Disease | DrugMAP

General Information of Disease (ID: DISNXA6J)

Disease Name	Hereditary sensory neuropathy-deafness-dementia syndrome
Synonyms	hereditary sensory neuropathy type 1E; DNMT1-related dementia, deafness, and sensory neuropathy; neuropathy, hereditary sensory, with hearing loss and dementia; neuropathy, hereditary sensory, type 1E; HSN 1E; neuropathy, hereditary sensory, type IE; HSNIE; hereditary sensory and autonomic neuropathy type 1E; hereditary sensory neuropathy with hearing loss and dementia; HSN1E; hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome; Hereditary Sensory and Autonomic Neuropathy Type 1E; hereditary sensory neuropathy type IE; HSAN1E
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.
Disease Hierarchy	DISFWL8F: Hereditary dementia DISOBM0Q: Sleep-wake disorder DISPN7D2: Inherited neurodegenerative disorder DISLSPO4: Hereditary sensory and autonomic neuropathy type 1 DISNXA6J: Hereditary sensory neuropathy-deafness-dementia syndrome
Disease Identifiers	MONDO ID MONDO_0013584 MESH ID C580162 UMLS CUI C3279885 OMIM ID 614116 MedGen ID 481515 Orphanet ID 456318 SNOMED CT ID 860812002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DNMT1	TT6S2FE	Limited	Genetic Variation	[1]
DNMT1	TT6S2FE	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNMT1	OTM2DGTK	Strong	Autosomal dominant	[2]
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References

1	Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE.BMC Neurol. 2018 Oct 20;18(1):174. doi: 10.1186/s12883-018-1177-2.
2	Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet. 2012 May 15;21(10):2205-10. doi: 10.1093/hmg/dds035. Epub 2012 Feb 9.