KEGG   DISEASE: Familial exudative vitreoretinopathyHelp
Entry
H00589                      Disease                                

Name
Familial exudative vitreoretinopathy
Description
Familial exudative vitreoretinopathy (FEVR) is inherited retinal disorders with ocular manifestations that are caused by alterations in the Wnt signaling network. FEVR has an abnormal vascularization of the peripheral retina with the formation of retinal folds, retinal detachment, and in many cases the creation of a fibrovascular membrane located behind the lens. Mutations in NDP, FZD4, and LRP5 have been reported to be responsible for ophthalmic diseases including Norrie disease, FEVR, and osteoporosis pseudoglioma syndrome. The proteins encoded by these genes have all been shown to participate in the Wnt/Norrin signaling pathway. Recently, heterozygous mutations in TSPAN12, which is a component of the Norrin-FZD4-LRP5 signaling complex, have been found to be responsible for autosomal dominant FEVR.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H00589  Familial exudative vitreoretinopathy
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA13  Structural developmental anomalies of the posterior segment of eye
     H00589  Familial exudative vitreoretinopathy
BRITE hierarchy
Pathway
hsa04310  Wnt signaling pathway
Gene
(EVR1) FZD4 [HSA:8322] [KO:K02354]
(EVR2) NDP [HSA:4693]
(EVR4) LRP5 [HSA:4041] [KO:K03068]
(EVR5) TSPAN12 [HSA:23554] [KO:K17355]
Comment
Exudative vitreoretinopathy 3 (EVR3) results from a deletion at chromosome 11p13-p12.
Other DBs
ICD-11: LA13.3
ICD-10: H35.0
MeSH: C580083
OMIM: 133780 305390 601813 613310
Reference
  Authors
Nikopoulos K, Venselaar H, Collin RW, Riveiro-Alvarez R, Boonstra FN, Hooymans JM, Mukhopadhyay A, Shears D, van Bers M, de Wijs IJ, van Essen AJ, Sijmons RH, Tilanus MA, van Nouhuys CE, Ayuso C, Hoefsloot LH, Cremers FP
  Title
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
  Journal
Hum Mutat 31:656-66 (2010)
DOI:10.1002/humu.21250
Reference
  Authors
Seitz R, Hackl S, Seibuchner T, Tamm ER, Ohlmann A
  Title
Norrin mediates neuroprotective effects on retinal ganglion cells via activation of the Wnt/beta-catenin signaling pathway and the induction of neuroprotective growth factors in Muller cells.
  Journal
J Neurosci 30:5998-6010 (2010)
DOI:10.1523/JNEUROSCI.0730-10.2010
Reference
  Authors
Clevers H
  Title
Eyeing up new Wnt pathway players.
  Journal
Cell 139:227-9 (2009)
DOI:10.1016/j.cell.2009.09.027
Reference
  Authors
Junge HJ, Yang S, Burton JB, Paes K, Shu X, French DM, Costa M, Rice DS, Ye W
  Title
TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling.
  Journal
Cell 139:299-311 (2009)
DOI:10.1016/j.cell.2009.07.048
Reference
  Authors
Chiurazzi P, Schwartz CE, Gecz J, Neri G
  Title
XLMR genes: update 2007.
  Journal
Eur J Hum Genet 16:422-34 (2008)
DOI:10.1038/sj.ejhg.5201994

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