Portal:Disease/SpecialIssue

From WikiPathways

See also the Rare disease portal on WikiPathways

A rare or orphan disease is a disease which affects relatively few people. The exact definition varies between 1:1000 and 1:200.000. E.g. it can be 1:1500 (USA) , 1:2000 (EU) or 1:2500 (Japan). Rare diseases are mostly caused by genetic variation making them chronic and hard to cure. The severity depends on the affected gene and its physiological implications. Rare disease pathways on WikiPathways:

• MECP2 and Associated Rett Syndrome
• Amyotrophic lateral sclerosis (ALS) SOD1 - CHMP2B MODEL
• Fanconi Anemia Pathway
• The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome
• Lamin A-processing pathway
• Viral Acute Myocarditis

Database for rare diseases (ORPHANET)