Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, also called CACP syndrome, is a rare autosomal recessive condition caused by mutations in the PRG4 gene, which normally lubricates cartilage surfaces. First described in 1986 with its genetic cause identified in 1999, it produces permanently bent fingers, joint disease resistant to anti-inflammatory treatment, hip deformity, and inflammation of the membrane around the heart, sometimes with congenital cataracts.
Facts
Classification
ICD-10 ChapterXIII: Diseases of the Musculoskeletal System and Connective Tissue 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Sources
1. Wikipedia: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Wikipedialead sentence 1
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare autosomal recessive genetic medical condition due to a mutation in the gene proteoglycan 4 (PRG4), a mucin-type glycoprotein that acts as a lubricant for the cartilage surfaces.
Lead section, body-system statement
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare autosomal recessive genetic medical condition due to a mutation in the gene proteoglycan 4 (PRG4) - a mucin-type glycoprotein that acts as a lubricant for the cartilage surfaces.
View the Source 2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XIIIQuote, List of chapters, Chapter XIII
Diseases of the musculoskeletal system and connective tissue
3. Wikipedia: Non-communicable disease
WikipediaLead section, transmission-route statement (inferred from disease-category)
NCDs include Parkinson's disease, autoimmune diseases, strokes, heart diseases, cancers, diabetes, chronic kidney disease, osteoarthritis, osteoporosis, Alzheimer's disease, cataracts, and others.
Named examples section
NCDs include Parkinson's disease, autoimmune diseases, strokes, heart diseases, cancers, diabetes, chronic kidney disease, osteoarthritis, osteoporosis, Alzheimer's disease, cataracts, and others.
View the Source 4. Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (Wikipedia)
Reader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.
Sign in to dispute this or suggest a correction.