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#