PedAM
Pediatric Disease Annotations & Medicines
| Disease | dementia |
| Phenotype | C0699739|hereditary sensory neuropathy |
| Sentences | 3 |
| PubMedID- 21532572 | Mutations in dnmt1 cause hereditary sensory neuropathy with dementia and hearing loss. |
| PubMedID- 25815005 | hereditary sensory neuropathy with dementia and hearing loss (omim 614116), an adult-onset neurodegenerative disorder, is the first mendelian inherited “methylopathy" identified due to mutations in the dnmt1 gene affecting the rfts domain (klein et al., 2011). |
| 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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