Disease #04240

Official abbreviation EVR;FEVR
Name vitreoretinopathy, exudative (EVR; familial FVER))
OMIM ID -
Inheritance -
Individuals reported having this disease 107
Phenotype entries for this disease 79
Associated with 6 genes CTNNB1, FZD4, LRP5, NDP, TSPAN12, ZNF408
Associated tissues -
Disease features -
Remarks -


Individuals

107 entries on 2 pages. Showing entries 1 - 100.
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00106554 17093393-Fam3 PubMed: Nallathambi 2006 3-generation family, 1 affected M no India - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR), see paper; ... FZD4 FZD4 1 1 Johan den Dunnen
00106555 - PubMed: Nikopoulos 2010 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Frans Cremers
00106556 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106557 - Kondo 2003 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106558 - Boonstra 2009 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106559 - PubMed: Nikopoulos 2010 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Frans Cremers
00106560 - Muller 2008 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106561 - Boonstra 2009 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106562 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106563 12172548-Fam2 PubMed: Robitaille 2002, Journal: Robitaille 2002 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106564 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106565 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106566 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106567 - PubMed: Nikopoulos 2010 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Frans Cremers
00106568 - Kondo 2003 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106569 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106570 - Robitaille 2009 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106571 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106572 - Omoto 2004 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106574 - PubMed: Nikopoulos 2010 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Frans Cremers
00106575 17093393-Fam2 PubMed: Nallathambi 2006 4-generation family, 5 affecteds (5M) M no India - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR), see paper; ... FZD4 FZD4 1 5 Johan den Dunnen
00106576 - Boonstra 2009 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106577 - MacDonald 2005 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106578 - Qin 2005 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106579 - Yoshida 2004 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106580 - Qin 2005 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106582 - Kondo 2003 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106583 - Boonstra 2009 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106584 - Kondo 2003 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106585 - Muller 2008 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106586 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Johan den Dunnen
00106587 - PubMed: Nikopoulos 2010 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 1 Frans Cremers
00106588 12172548-Fam PubMed: Robitaille 2002, Journal: Robitaille 2002 3-generation family, 29 affecteds (16F, 13M) F;M no Canada British - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) FZD4 FZD4 1 29 Johan den Dunnen
00106590 17093393-Fam1 PubMed: Nallathambi 2006 4-generation family, affected father/son M yes India - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR), see paper; ... FZD4 FZD4 1 2 Johan den Dunnen
00107595 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 6 Johan den Dunnen
00107596 - - - - - United States - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 6 Johan den Dunnen
00107597 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy, autosomal recessive LRP5 LRP5 2 2 Johan den Dunnen
00107598 - - - - yes - - - 0 - - EVR;FEVR exudative vitreoretinopathy (OMIM601813) LRP5 LRP5 2 3 Johan den Dunnen
00107599 - - - - - - - - 0 - - EVR;FEVR exudative vitreoretinopathy (OMIM601813) LRP5 LRP5 2 2 Johan den Dunnen
00107601 - - - - - Japan - - 0 - - EVR;FEVR exudative vitreoretinopathy (OMIM601813) LRP5 LRP5 1 1 Johan den Dunnen
00107602 - - - - - Japan - - 0 - - EVR;FEVR exudative vitreoretinopathy (OMIM601813) LRP5 LRP5 1 1 Johan den Dunnen
00107603 - - - - - Japan - - 0 - - EVR;FEVR exudative vitreoretinopathy (OMIM601813) LRP5 LRP5 1 1 Johan den Dunnen
00107604 - - - - - Japan - - 0 - - EVR;FEVR exudative vitreoretinopathy (OMIM601813) LRP5 LRP5 1 1 Johan den Dunnen
00107605 - - heterozygous parent - - Japan - - 0 - - EVR;FEVR familial exudative vitreoretinopathy, autosomal recessive LRP5 LRP5 2 1 Johan den Dunnen
00107644 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 1 Johan den Dunnen
00107645 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 1 Johan den Dunnen
00107646 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 1 Johan den Dunnen
00107647 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 1 Johan den Dunnen
00107662 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 1 Frans Cremers
00107663 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 1 Frans Cremers
00107664 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy, autosomal recessive LRP5 LRP5 2 1 Frans Cremers
00107665 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 1 Frans Cremers
00107681 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy, autosomal recessive LRP5 LRP5 2 1 Frans Cremers
00107696 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 1 Frans Cremers
00107697 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 1 Frans Cremers
00107698 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy, autosomal recessive LRP5 LRP5 1 1 Frans Cremers
00107699 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy, autosomal recessive LRP5 LRP5 1 1 Frans Cremers
00107700 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy, autosomal recessive LRP5 LRP5 1 1 Frans Cremers
00107701 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 1 Frans Cremers
00107702 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 1 Frans Cremers
00107705 - - - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy LRP5 LRP5 1 1 Frans Cremers
00154935 - - - F - Netherlands Dutch 28y 0 - - EVR;FEVR EVR + microcephaly KIF11 KIF11 1 1 Dyah Karjosukarso
00155557 - Sharon, submitted - F yes Israel Beduin - 0 - - EVR;FEVR - TSPAN12 TSPAN12 1 4 Dror Sharon
00262062 Patient 1 PubMed: Zhang 2019 2-generation family, affected father/daughter F no China - 21y 0 yes - EVR;FEVR - - JAG1 1 1 Dimitra Ilektra Lerou
00262083 Patient 2 PubMed: Zhang 2019 2-generation family, affected mother/son M no China - - 0 yes - EVR;FEVR HP:0000541 Retinal detachment HP:0000518 Cataract - JAG1 1 1 Dimitra Ilektra Lerou
00262085 Patient 3 PubMed: Zhang 2019 2-generation family, affected mother/son M no China - ? 0 - - EVR;FEVR - - JAG1 1 1 Dimitra Ilektra Lerou
00262088 Patient 1 (daughter) PubMed: Wang 2019 2-generation family, affected mother/daughter F ? China - 27y 0 - - EVR;FEVR HP:0001249 Intellectual Disability HP:0000565 Esotropia HP:0001270 Motor Delay HP:0000541 Retinal Detachment - CTNNB1 1 2 Dimitra Ilektra Lerou
00262094 Patient 2 (mother) PubMed: Wang 2019 2-generation family, affected mother/daughter F ? China - 49y 0 - - EVR;FEVR HP:0001249 Intellectual Disability HP:0000565 Esotropia HP:0001270 Motor Delay - CTNNB1 1 1 Dimitra Ilektra Lerou
00263089 E9 III-2 PubMed: Wu 2016 family of 3-generations, 2 affected M no Taiwan - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (HP:0030490); no sign of retinitis pigmentosa (HP:0000510); left eye: total traction retinal detachment (HP:0007917), corneal opacity (HP:0007957), retinal hole (HP:0011530) FZD4, LRP5, NDP, TSPAN12, ZNF408 NDP, RCBTB1 2 2 Jasmine Chen
00263295 E9 III-4 PubMed: Wu 2016 3 generation family, 2 affected M no Taiwan - - 0 - right eye intraocular lens implantation EVR;FEVR familial exudative retinopathy (HP:0030490), right eye fibrovascular stalk (HP:0007968), left eye (HP:0001103) FZD4, LRP5, NDP, TSPAN12, ZNF408 NDP, RCBTB1 2 1 Jasmine Chen
00263296 E5 II-1 PubMed: Wu 2016 2 generation family, 1 affected M no Taiwan - - 0 - cryopexy, pars plana vitrectomy, removal of subretinal fibrous cord EVR;FEVR subretinal lipid exudate (HP:0011532), right eye exudative retinal detachment (HP:0012231), right eye Coats disease (HP:0030490), left eye aphakia (HP:0007707) - RCBTB1 1 1 Jasmine Chen
00263300 F1 V:1 PubMed: Coppieters 2016 5 generation consanguineous family, 3 affected F yes Belgium Turkish - 0 - - EVR;FEVR, RP severe retinitis pigmentosa (HP:0000510), goiter (HP:0000853), primary ovarian insufficiency (HP:0008209), mild intellectual disability (HP:0001256) - RCBTB1 1 3 Jasmine Chen
00263971 W05-215 III:5 PubMed: Collin 2013 5-generation family, 12 affected M no Netherlands - - 0 - diathermy EVR-6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), left eye retinal detachment (HP:0000541), - PASK, ZNF408 2 12 Jasmine Chen
00263981 W05-215 V:2 PubMed: Collin 2013 PatV2 F no Netherlands - - 0 - - EVR-6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), left eye falciform retinal fold (HP:0001493) PASK, ZNF408 PASK, ZNF408 2 1 Jasmine Chen
00264047 W05-220 IV:3 PubMed: Collin 2013 5 generation family, 2 affected; related to family W05-215 of same study by common ancestor M no Netherlands - - 0 - - EVR-6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490) PASK, ZNF408 ZNF408 1 2 Jasmine Chen
00264048 W05-220 V:2 PubMed: Collin 2013 PatV2 M no Netherlands - - 0 - - EVR-6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), horizontal nystagmus (HP:0000666) PASK, ZNF408 ZNF408 1 1 Jasmine Chen
00264049 F117 II:2 PubMed: Collin 2013 2 generation family, 2 affected M no Japan - - 0 - laser photocoagulation EVR-6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), retinal hole (HP:0011530) ZNF408 ZNF408 1 2 Jasmine Chen
00264050 F117 I:1 PubMed: Collin 2013 PatI1 M no Japan - - 0 - - EVR-6, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), exudative retinal detachment (HP:0012231), ZNF408 ZNF408 1 1 Jasmine Chen
00265201 MEP57 2298 PubMed: Khan 2012 4 generation family, consanguineous, 5 affected M yes Pakistan - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), detached retina (HP:0000541), no light perception (HP:0032287), microphthalmia (HP:0000568) - ATOH7 1 5 Jasmine Chen
00265202 FamAPatient 1 (son) PubMed: Tian 2019 2-generation family, affected father/son M ? China - 04y 0 yes - EVR;FEVR Retinal detachment HP:0000541 - FZD4 1 2 Dimitra Ilektra Lerou
00265204 FamAPat2 (father) PubMed: Tian 2019 affected father M ? China - ? 0 no - EVR;FEVR - - FZD4 1 1 Dimitra Ilektra Lerou
00265205 FamBPat3 (son) PubMed: Tian 2019 2-generation family, affected father/son M ? China - 03y 0 yes - EVR;FEVR Falciform retinal fold HP:0001493 - FZD4 1 2 Dimitra Ilektra Lerou
00265206 FamB Patient 4 Tian 2019 (father) PubMed: Tian 2019 2-generation family, affected father/son M ? China - ? 0 - - EVR;FEVR - - FZD4 1 1 Dimitra Ilektra Lerou
00265208 NE1 F475 PubMed: Khan 2011 4 generation family, 2 affected M yes Turkey - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), microphthalmia (HP:0000568), detached retina (HP:0000541), small optic nerve (HP:0008058) ATOH7 ATOH7 1 2 Jasmine Chen
00265211 FamC Patient 5 Tian 2019 (son) PubMed: Tian 2019 2-generation family, affetced father/son M ? China - 03y 0 - - EVR;FEVR Norrie Disease with Choroidal Atrophy OMIM:310600 - FZD4 1 2 Dimitra Ilektra Lerou
00265241 FamC Patient 6 Tian 2019 (father) PubMed: Tian 2019 2-generation family,affected father/son M ? China - ? 0 - - EVR;FEVR - - FZD4 1 1 Dimitra Ilektra Lerou
00265242 FamD Patient 7 Tian 2019 (son) PubMed: Tian 2019 2-generation family, affected father/son M ? China - 02y 0 yes - EVR;FEVR Retinal folds HP:0008052 - FZD4 1 2 Dimitra Ilektra Lerou
00265243 FamD Patient 8 Tian 2019 (father) PubMed: Tian 2019 2-generation family, affected father/son M ? China - ? 0 - - EVR;FEVR Peripheral retinal avascularization HP:0007685 - FZD4 1 1 Dimitra Ilektra Lerou
00265245 7101 PubMed: Kondo 2016 2 generation family, 1 affected M no Japan - - 0 - lensectomy EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), retinal detachment (HP:0000541), bilateral leukocoria (HP:0000555), blindness (HP:0000618) ATOH7 ATOH7 1 1 Jasmine Chen
00265248 Patient 1 Khan 2016 PubMed: Khan 2016 2-generation family, unaffected parents/sisters, two affected brothers M ? United Arab Emirates - ? 0 - - EVR;FEVR Leukocoria HP:0000555 Retinal detachment HP:0000541 COL10A1, COL18A1, COL1A1, COL2A1, FZD4, KCNJ13, LRP5, NDP, RS1, TSPAN12, ZNF408 FZD4 1 2 Dimitra Ilektra Lerou
00265249 Patient 2 Khan 2016 PubMed: Khan 2016 2-generation family, unaffected parents/sisters, two affected brothers M ? United Arab Emirates - ? 0 no - EVR;FEVR Leukocoria HP:0000555 Retinal detachment HP:0000541 C10orf10, COL10A1, COL18A1, COL1A1, COL2A1, FZD4, KCNK13, LRP5, NDP, RS1, TSPAN12, ZNF408 FZD4 1 1 Dimitra Ilektra Lerou
00265251 12001 PubMed: Kondo 2016 sporadic F ? Japan - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral falciform retinal folds (HP:0001493) ATOH7 ATOH7 1 1 Jasmine Chen
00265252 15402 PubMed: Kondo 2016 2 generation family, 2 affected (F, M), unaffected heterozygous carrier father F no Japan - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), syndactyly (HP:0001159), renal failure (HP:0000083) left eye total retinal detachment (HP:0000541) ATOH7 ATOH7 1 2 Jasmine Chen
00265257 QT409 PubMed: Sun 2019 - M no China - - 0 - - EVR;FEVR corneal opacity, occlusion of pupil, temporal dragging of optic disc, retinal detachment CTNNB1 CTNNB1 1 1 Johan den Dunnen
00265265 14501 PubMed: Kondo 2016 sporadic M ? Japan - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral rhegmatogenous retinal detachment (HP:0012230) ATOH7 ATOH7 1 1 Jasmine Chen
00265288 Patient 1 Yang 2018 (son) PubMed: Yang 2018 2-generation family, affected father/son M no China - 07y 0 yes - EVR;FEVR Peripheral retinal avascularization HP:0007685 Retinal fold HP:0008052 - FZD4 1 2 Dimitra Ilektra Lerou
00265289 Patient 2 Yang 2018 (father) PubMed: Yang 2018 2-generation family, affected father/son M ? China - 32y 0 yes - EVR;FEVR Peripheral retinal avascularization HP:0007685 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00265290 10877 PubMed: Ghiasvand 2011 9 generation consanguineous family, 42 affected ? ? Iran Kurdish (Iranian) ? 0 - - EVR;FEVR nonsyndromic congenital retinal nonattachment (severe subtype of familial exudative vitreoretinopathy; HP:0030490), lack of optic nerve (HP:0008058), leukocoria (HP:0000555) ATOH7 - 0 42 Jasmine Chen
00265291 3027001 PubMed: Fei 2015 - F no China Han 02y 0 yes - EVR;FEVR Retinal fold HP:0008052 Retinal detachment HP:0000541 Glaucoma HP:0000501 Cataract HP:0000518 - FZD4 1 1 Dimitra Ilektra Lerou
00265292 3060001 PubMed: Fei 2015 - F no China Han 03y 0 yes - EVR;FEVR Cataract HP:0000518 Vitreous hemorrhage HP:0007902 - FZD4 1 1 Dimitra Ilektra Lerou
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