KEGG   DISEASE: Reynolds syndrome
Entry
H01133                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Nonorgan specific systemic autoimmune disorders
   4A43  Overlap or undifferentiated nonorgan specific systemic autoimmune disease
    H01133  Reynolds syndrome
Pathway
hsa00100  Steroid biosynthesis
Gene
LBR [HSA:3930] [KO:K19532]
Other DBs
ICD-11: 4A43.Y
ICD-10: K74.5 L94.0
OMIM: 613471
Reference
  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
Reference
  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

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