Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Nephrocystin 3

Mutations of the nephrocystin 3 gene cause autosomal recessive adolescent Nephronophthisis or Renal-hepatic-pancreatic dysplasia (RHPD).

Pathology

Gene mutations cause alteration of tubular basement membrane, degeneration and dilatation of tubules, which finally leads to generalized tubulo-interstitial sclerosis. Cysts predominantly appear at the cortico-medullary junction.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 30 days
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 03
NPHP3
Meckel syndrome 07
NPHP3
Senior-Loken syndrome 3
NPHP3
Renal-hepatic-pancreatic dysplasia 1
NPHP3

References:

1.

Omran H et al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.

external link
2.

Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

external link
3.

Omran H et al. (2000) Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.

external link
4.

Komatsuda A et al. (2006) Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis.

external link
5.

NCBI article

NCBI 27031 external link
6.

OMIM.ORG article

Omim 608002 external link
7.

Orphanet article

Orphanet ID 123878 external link
8.

Wikipedia article

Wikipedia EN (NPHP3) external link
Update: Aug. 14, 2020
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