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 molecule (CAM) interaction
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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