| H00589 | |
| H number | H00589 |
| 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 |
| Network | - |
| Gene | (EVR1) FZD4 [HSA:8322] [KO:K02354] (EVR2) NDP [HSA:4693] [KO:K25688] (EVR4) LRP5 [HSA:4041] [KO:K03068] (EVR5) TSPAN12 [HSA:23554] [KO:K17355] (EVR6) ZNF408 [HSA:79797] [KO:K24372] (EVR7) CTNNB1 [HSA:1499] [KO:K02105] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| 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 616468 617572 |
| Reference | PMID:19837026 AUTHORS Clevers H TITLE Eyeing up new Wnt pathway players. JOURNAL Cell 139:227-9 (2009) DOI:10.1016/j.cell.2009.09.027 PMID:20340138 (EVR1 EVR2 EVR4) 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 PMID:19837033 (EVR5) 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 PMID:23716654 (EVR6) AUTHORS Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP TITLE ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. JOURNAL Proc Natl Acad Sci U S A 110:9856-61 (2013) DOI:10.1073/pnas.1220864110 PMID:28575650 (EVR7) AUTHORS Panagiotou ES, Sanjurjo Soriano C, Poulter JA, Lord EC, Dzulova D, Kondo H, Hiyoshi A, Chung BH, Chu YW, Lai CHY, Tafoya ME, Karjosukarso D, Collin RWJ, Topping J, Downey LM, Ali M, Inglehearn CF, Toomes C TITLE Defects in the Cell Signaling Mediator beta-Catenin Cause the Retinal Vascular Condition FEVR. JOURNAL Am J Hum Genet 100:960-968 (2017) DOI:10.1016/j.ajhg.2017.05.001 |