eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hereditary sensory and autonomic neuropathy type 1 |
| Comorbidity | C0497327|dementia |
| Sentences | 3 |
| PubMedID- 23365052 | Dnmt1 mutation hot spot causes varied phenotypes of hsan1 with dementia and hearing loss. |
| PubMedID- 25033457 | We previously discovered dnmt1 mutations cause hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss (hsan1e; omim 614116). |
| PubMedID- 21532572 | Here we show mutations in dnmt1 cause both central and peripheral neurodegeneration in one form of hereditary sensory and autonomic neuropathy (hsan1) with dementia and hearing loss7,8. |
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