eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hereditary sensory neuropathy |
| Comorbidity | C0497327|dementia |
| Sentences | 3 |
| PubMedID- 22328086 | Mutations in exon 20 of this gene were recently reported to cause hereditary sensory neuropathy with dementia and hearing loss (hsan1). |
| 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- 21532572 | Mutations in dnmt1 cause hereditary sensory neuropathy with dementia and hearing loss. |
Page: 1