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:
Related Diseases:
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.
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2. |
Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
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3. |
Omran H et al. (2000) Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.
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4. |
Komatsuda A et al. (2006) Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis.
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5. |
NCBI article
NCBI 27031
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6. |
OMIM.ORG article
Omim 608002
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7. |
Orphanet article
Orphanet ID 123878
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8. |
Wikipedia article
Wikipedia EN (NPHP3)
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Update: Aug. 14, 2020