Homepage  
SymptomsDiseasesGenetestsShipmentSampleContactQuality
   
 


Nephronophthisis 3
604387


Pedigree


Diagnostic
strategy


Forms


Print page


Sprache
wechseln

Nephronophthisis 3

Clinical feature: 

Definition: The autosomal recessive disease, nephronophthisis 3, is characterized by medullary renal cysts. In contrast to other forms of nephronophthisis, the onset of symptoms is significantly later.

Systematic link table: 

Medullary cystic disease complex
Medullary cystic kidney disease 2
UMOD
Nephronophthisis
Nephronophthisis 3
NPHP3

Literature: 

Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Omran H et al. (2000) Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.
Omran H et al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.
Komatsuda A et al. (2006) Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis.