Gradual progression to ESRD in the index case of at least two family members.
Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease).
Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis.
Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene.
Down syndrome | Tourette syndrome | Asperger syndrome | Marfan syndrome | Down Syndrome | Turner syndrome | Down's syndrome | Asperger's syndrome | Williams syndrome | Stockholm syndrome | Severe acute respiratory syndrome | Rett syndrome | Irukandji syndrome | Chronic fatigue syndrome | Wiskott–Aldrich syndrome protein | Tourette Syndrome Association | syndrome | severe acute respiratory syndrome | Premenstrual syndrome | Le syndrome de Peter Pan | Alport syndrome | Usher syndrome | The China Syndrome | Sudden Infant Death Syndrome | Stockholm Syndrome (band) | Stockholm Syndrome | Stickler syndrome | Stevens–Johnson syndrome | Sjögren's syndrome | Restless legs syndrome |