| H01133 | |
| H number | H01133 |
| Name | Reynolds syndrome |
| Description | Reynolds syndrome is a rare disease associating primary biliary cirrhosis (PBC) and systemic scleroderma (SSc). It is typically classified as an autoimmune disorder since there are specific autoantibodies associated with both facets of the disease (antimitochondrial antibodies for PBC and anticentromere/antitopoisomerase for SSc), and suggestive microscopical abnormalities in the skin and liver. A mutation in the Lamin B receptor gene has been discovered in the white blood cells, suggesting that nuclear signalling defects could be a cause in Reynolds syndrome. |
| Category | Immune system disease |
| Network | - |
| Gene | LBR [HSA:3930] [KO:K19532] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A43.Y ICD-10: K74.5 L94.0 OMIM: 613471 |
| Reference | PMID:20800400 AUTHORS Cabane J TITLE Is Reynolds syndrome a genetic laminopathy? JOURNAL Gastroenterol Clin Biol 34:509-10 (2010) DOI:10.1016/j.gcb.2010.07.008 PMID:20522425 AUTHORS Gaudy-Marqueste C, Roll P, Esteves-Vieira V, Weiller PJ, Grob JJ, Cau P, Levy N, De Sandre-Giovannoli A TITLE LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. JOURNAL J Med Genet 47:361-70 (2010) DOI:10.1136/jmg.2009.071696 |