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PedAM

Pediatric Disease Annotations & Medicines




Disease dementia
Phenotype C0151313|sensory neuropathy
Sentences 3
PubMedID- 25815005 Autosomal dominant cerebellar ataxia-deafness and narcolepsy (adca-dn) and hereditary sensory neuropathy with dementia and hearing loss (hsn1e) are two rare, overlapping neurodegenerative syndromes that have been recently linked to allelic dominant pathogenic mutations in the dnmt1 gene, coding for dna (cytosine-5)-methyltransferase 1 (dnmt1).
PubMedID- 21532572 Mutations in dnmt1 cause hereditary sensory neuropathy with dementia and hearing loss.
PubMedID- 22328086 Mutations in exon 20 of this gene were recently reported to cause hereditary sensory neuropathy with dementia and hearing loss (hsan1).

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