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Alport syndrome

Monday 24 January 2005

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