Disease #01327 (EVR1 (vitreoretinopathy, exudative, type 1 (EVR1)), OMIM:133780)

Official abbreviation EVR1
Name vitreoretinopathy, exudative, type 1 (EVR1)
OMIM ID 133780
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 30
Phenotype entries for this disease 28
Associated with 1 gene FZD4
Associated tissues -
Disease features -
Remarks -


Individuals

30 entries on 1 page. Showing entries 1 - 30.
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00265244 Patient 1 Montecinos-Contreras 2016 (son PubMed: Montecinos-Contreras 2016 2-generation family, affected mother/son M ? Mexico - 13y 0 yes - EVR1 Peripheral retinal avascularization HP:0007685 - FZD4 1 2 Dimitra Ilektra Lerou
00265246 Patient 2 Montecinos-Contreras 2016 (mother) PubMed: Montecinos-Contreras 2016 2-generation family, affected mother/son F ? Mexico - 53y 0 yes - EVR1 Peripheral retinal avascularization HP:0007685 - FZD4 1 1 Dimitra Ilektra Lerou
00274320 E1 II:1 PubMed: Wu 2016 2 generation family, 2 affected (1 non-penetrant carrier) M no Taiwan - - 0 - - EVR1, EVR;FEVR exudative vitreoretinopathy (HP:0030490) FZD4, LRP5, NDP, TSPAN12, ZNF408 FZD4 1 2 Jasmine Chen
00274321 E10 III:10 PubMed: Wu 2016 4 generation family, 5 affected (4 nonpenetrant carriers) F no Taiwan - - 0 - - EVR1, EVR;FEVR exudative vitreoretinopathy (HP:0030490) FZD4, LRP5, NDP, TSPAN12, ZNF408 FZD4 1 5 Jasmine Chen
00274891 Patient 1 Iwata 2019 PubMed: Iwata 2019 sister of proband had FEVR in infancy and required photocoagulation M no Japan - 03y 0 - - EVR1 Peripheral retinal avascularization HP:0007685 Vitreous hemorrhage HP:0007902 Vitreomacular traction HP:0031151 - FZD4 1 1 Dimitra Ilektra Lerou
00275005 Patient 1 Bochicchio 2017 PubMed: Bochicchio 2017 - F no Italy Hispanic 28y 0 - - EVR1 Esotropia HP:0000565 Corneal opacity HP:0007957 Retinal neovascularization HP:0030666 FZD4, LRP5, NDP, TSPAN12 FZD4 2 1 Dimitra Ilektra Lerou
00275007 Patient 1 Mammo 2015 PubMed: Mammo 2015 - M no Taiwan - 00y08m 0 - - EVR1, SMA diagnosed with spinal muscular atrophy with SMN1 deletion, Leukocoria HP:0000555 Anterior chamber synechiae HP:0007833 Peripheral retinal avascularization HP:0007685 - FZD4 1 1 Dimitra Ilektra Lerou
00275439 Patient 1 Tang 2016 PubMed: Tang 2016 3-generation family, mutation-carrying grandfather, father and elder sister all asympotmatic M - China Southern Chinese 04y 0 - - EVR1 Retinal fold HP:0008052 Peripheral retinal avascularization HP:0007685 - FZD4 1 1 Dimitra Ilektra Lerou
00275442 Patient 2 Tang 2016 PubMed: Tang 2016 2-generation family, mutation-carrying mother and brother completely asymptomatic F no China Souther Chinese 14y 0 - - EVR1 Peripheral retinal avascularization HP:0007685 Retinal detachment HP:0000541 - FZD4 1 1 Dimitra Ilektra Lerou
00275444 Patient 3 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 13y 0 - - EVR1 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275446 Patient 4 Tang 2016 PubMed: Tang 2016 mutation-carrying father and paternal uncle are clinically healthy with avascularity, mutation-carrying paternal aunt clinically healthy without any sign of retinopathy M no China Southern Chinese 11y 0 - - EVR1 Retinal detachment HP:0000541 Ectopic fovea HP:0025007 - FZD4 1 1 Dimitra Ilektra Lerou
00275448 Patient 5 Tang 2016 PubMed: Tang 2016 2-generation, affected but asymptomatic father M no China Southern Chinese 06y 0 - - EVR1 Ectopic fovea HP:0025007 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275450 Patient 6 Tang 2016 PubMed: Tang 2016 2-generation family, affected father/elder brother M no China Southern Chinese 08y 0 - - EVR1 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275451 Patient 7 Tang 2016 PubMed: Tang 2016 2-generation family, mutation-carrying mother/elder sister, elder sister asymptomatic F no China Southern Chinese 00y07m 0 - - EVR1 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275453 Patient 8 Tang 2016 PubMed: Tang 2016 2-generation family, mutation-carrying mother/sister both asymptomatic M no China Southern Chinese 08y 0 - - EVR1 Retinal fold HP:0008052 Peripheral retinal avascularization HP:0007685 Retinal neovascularization HP:0030666 - FZD4 1 1 Dimitra Ilektra Lerou
00275454 Patient 9 Tang 2016 PubMed: Tang 2016 - F no China Southern Chinese 26y 0 - - EVR1 Retinal neovascularization HP:0030666 Peripheral retinal avascularization HP:0007685 Vitreous hemorrhage HP:0007902 - FZD4 1 1 Dimitra Ilektra Lerou
00275455 Patient 10 Tang 2016 PubMed: Tang 2016 2-generation family, mother affected but asymptomatic F no China Southern Chinese 03y 0 - - EVR1 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275457 Patient 11 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 08y 0 - - EVR1 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275458 Patient 12 Tang 2016 PubMed: Tang 2016 2-generation family, affected father/son M no China Southern Chinese 15y 0 - - EVR1 Ectopic fovea HP:0025007 - FZD4 1 1 Dimitra Ilektra Lerou
00275459 Patient 13 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 12y 0 - - EVR1 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275460 Patient 14 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 10y 0 - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275462 Patient 15 Tang 2016 PubMed: Tang 2016 2-generation family, affected both children M no China Southern Chinese 10y 0 - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275463 Patient 16 Tang 2016 PubMed: Tang 2016 2-generation family, affected father/mother and two sons M no China Southern Chinese 15y 0 - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275464 Patient 17 Tang 2016 PubMed: Tang 2016 2-generation family, affected mother/son M no China Southern Chinese 05y 0 - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275465 Patient 18 Tang 2016 PubMed: Tang 2016 2-generation family, affected mother/daughter F no China Southern Chinese 00y02m 0 - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275466 Patient 19 Tang 2016 PubMed: Tang 2016 2-generation family, affected mother/son M no China Southern Chinese 02y 0 - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275467 Patient 20 Tang 2016 PubMed: Tang 2016 2-generation family, affected mother/som M no China Southern Chinese 04y 0 - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275468 Patient 21 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 00y06m 0 - - EVR1 - - FZD4 1 1 Dimitra Ilektra Lerou
00275470 Patient 2 Omoto 2004 PubMed: Omoto 2004 2-generation family, affected mother/daughter F no Japan - 01y01m 0 - - EVR1 Remnants of the hyaloid vascular system HP:0007968 Exotropia HP:0000577 Retinal fold HP:0008052 - FZD4 1 1 Dimitra Ilektra Lerou
00275471 Patient 1 MacDonald 2005 PubMed: MacDonald 2005 - ? no (United States) - ? 0 - - EVR1 - - FZD4 2 1 Dimitra Ilektra Lerou
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