KEGG DISEASE: Renal coloboma syndrome

DISEASE: Renal coloboma syndrome

Entry

H01026                      Disease

Name

Renal coloboma syndrome;
Papillorenal syndrome

Description

Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition comprising optic nerve dysplasia and oligomeganephronic renal hypodysplasia. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with clinical findings suggestive of RCS.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01026  Renal coloboma syndrome

Gene

PAX2 [HSA:5076] [KO:K15608]

Other DBs

ICD-11:

LD2F.1Y

MeSH:

C537168

OMIM:

120330

Reference

PMID:22213154

Authors

Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Moriniere V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L

Title

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

Journal

Hum Mutat 33:457-66 (2012)
DOI:10.1002/humu.22020

Reference

PMID:21654726

Authors

Schimmenti LA

Title

Renal coloboma syndrome.

Journal

Eur J Hum Genet 19:1207-12 (2011)
DOI:10.1038/ejhg.2011.102

LinkDB

» Japanese version

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