KEGG   DISEASE: Familial exudative vitreoretinopathyHelp
H00589                      Disease                                

Familial exudative vitreoretinopathy
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.
Nervous system disease
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
hsa04310  Wnt signaling pathway
(EVR1) FZD4 [HSA:8322] [KO:K02354]
(EVR2) NDP [HSA:4693]
(EVR4) LRP5 [HSA:4041] [KO:K03068]
(EVR5) TSPAN12 [HSA:23554] [KO:K17355]
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
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
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Hum Mutat 31:656-66 (2010)
Seitz R, Hackl S, Seibuchner T, Tamm ER, Ohlmann A
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.
J Neurosci 30:5998-6010 (2010)
Clevers H
Eyeing up new Wnt pathway players.
Cell 139:227-9 (2009)
Junge HJ, Yang S, Burton JB, Paes K, Shu X, French DM, Costa M, Rice DS, Ye W
TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling.
Cell 139:299-311 (2009)
Chiurazzi P, Schwartz CE, Gecz J, Neri G
XLMR genes: update 2007.
Eur J Hum Genet 16:422-34 (2008)

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