eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cockayne syndrome |
| Symptom | C0231341|premature aging |
| Sentences | 2 |
| PubMedID- 20100872 | Defects in the dna repair mechanism nucleotide excision repair (ner) may lead to tumors in xeroderma pigmentosum (xp) or to premature aging with loss of subcutaneous fat in cockayne syndrome (cs). |
| PubMedID- 24781187 | In addition, the assumption that these cellular pathologies contribute to the neuronal degeneration and premature aging symptoms of cockayne syndrome patients was challenged by the observation that patients with the mild cutaneous disease uv-sensitive syndrome still reveal hypersensitivity to uv light and block of transcription after uv light.4,5 these results argue that the hitherto described cellular abnormalities of cs cells are not involved in the pathophysiology of premature aging and cachexia in this disease. |
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