KEGG   DISEASE: H00581Help
Entry
H00581                      Disease                                

Name
Alport syndrome
Description
Alport syndrome is a hereditary hematuric nephropathy with frequent hearing loss and ocular anomalies. Defects of basement membranes arise from mutations in alpha 3, alpha 4, and alpha 5 type IV collagen chains. The mode of inheritance is either X-linked or autosomal recessive, although autosomal dominant form has been observed in a few families. Male patients with X-linked Alport syndrome suffer from severe renal symptoms that progress to end-stage renal disease associated with deafness which starts during the first decade of life, and ocular lesions including anterior lenticonus. Autosomal recessive Alport syndrome is usually severe, showing progressive nephritis and hearing impairment.
Category
Kidney disease
BRITE hierarchy
Pathway
Focal adhesion
ECM-receptor interaction
Gene
(autosomal) COL4A3 [HSA:1285] [KO:K06237]
(autosomal) COL4A4 [HSA:1286] [KO:K06237]
(X-linked) COL4A5 [HSA:1287] [KO:K06237]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:18094725 (gene, description)
  Authors
Gubler MC
  Title
Inherited diseases of the glomerular basement membrane.
  Journal
Nat Clin Pract Nephrol 4:24-37 (2008)
Reference
PMID:21071975 (gene, description)
  Authors
Kashtan CE, Segal Y
  Title
Genetic disorders of glomerular basement membranes.
  Journal
Nephron Clin Pract 118:c9-c18 (2011)
Reference
PMID:19470679 (gene, description)
  Authors
Heidet L, Gubler MC
  Title
The renal lesions of Alport syndrome.
  Journal
J Am Soc Nephrol 20:1210-5 (2009)

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