Types
autosomal recessive Alport syndrome
autosomal dominant Alport syndrome
X-linked Alport syndrome (mutations in the COL4A5) (MIM.303630)
Etiology
germline mutations in COL4As genes coding for type collagen
- COL4A3 : mutations in autosomal recessive Alport syndrome
- COL4A4 : mutations in autosomal recessive Alport syndrome
- COL4A5 : mutations in X-linked Alport syndrome
- COL4A6 : deletions in diffuse leiomyomatosis (MIM.308940) with X-linked Alport syndrome
See also
collagens
References
Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG. Alport’s syndrome, Goodpasture’s syndrome, and type IV collagen. N Engl J Med. 2003 Jun 19;348(25):2543-56. PMID: 12815141