KEGG   DISEASE: Wagner syndrome
Entry
H02073                      Disease                                
Name
Wagner syndrome
  Supergrp
Vitreoretinal degeneration [DS:H00805]
Description
Wagner syndrome is a rare dominantly inherited vitreoretinopathy, characterized by an optically empty vitreous with avascular vitreous strands and veils. Wagner syndrome is caused by mutations in VCAN, encoding a chondroitin sulfate proteoglycan termed versican.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the vitreous body
    9B80  Inherited vitreoretinal disorders
     H02073  Wagner syndrome
Pathway
hsa04514  Cell adhesion molecules
Gene
VCAN [HSA:1462] [KO:K06793]
Other DBs
ICD-11: 9B80
MeSH: C536075
OMIM: 143200
Reference
PMID:21738396
  Authors
Brezin AP, Nedelec B, Barjol A, Rothschild PR, Delpech M, Valleix S
  Title
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.
  Journal
Mol Vis 17:1669-78 (2011)
Reference
PMID:16043844
  Authors
Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M
  Title
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
  Journal
Invest Ophthalmol Vis Sci 46:2726-35 (2005)
DOI:10.1167/iovs.05-0057
LinkDB

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