Disease #02234 (EVR-2 (vitreoretinopathy, exudative, X-linked, type 2 (EVR-2)), OMIM:305390)

Official abbreviation EVR-2
Name vitreoretinopathy, exudative, X-linked, type 2 (EVR-2)
OMIM ID 305390
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 35
Phenotype entries for this disease 2
Associated with 1 gene NDP
Associated tissues -
Disease features -
Remarks -


Individuals

35 entries on 1 page. Showing entries 1 - 35.
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00037535 - Kondo 2007 - - - - - - 0 - - EVR-2 - NDP NDP 1 1 Frans Cremers
00037549 - Royer 2003 - - - - - - 0 - - EVR-2 - NDP NDP 1 1 Frans Cremers
00274456 Family 1 PubMed: Dickinson 2006 monozygotic male twins M ? Australia - - 0 - - EVR-2, EVR;FEVR, ND bilateral total detachment (HP:0000541), Norrie-related deafness (HP:0000365) NDP NDP 1 2 Jasmine Chen
00274457 - PubMed: Dickinson 2006 - M ? Australia - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) NDP NDP 1 1 Jasmine Chen
00274675 Patient 1 PubMed: Wawrocka 2016 - M ? Poland - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490), retinal detachment (HP:0000541), iris rubeosis (HP:0025319) NDP NDP 2 1 Jasmine Chen
00274676 Patient 2 PubMed: Wawrocka 2016 - M ? Poland - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) NDP NDP 1 1 Jasmine Chen
00274677 Family 1 III:6 PubMed: Pelcastre 2010 3 generation family, 12 affected (all male) M no Mexico - - 0 - - EVR-2, EVR;FEVR, ND total retinal detachment (HP:0030490) NDP NDP 1 12 Jasmine Chen
00274678 Family 2 III:1 PubMed: Pelcastre 2010 4 generation family, 7 affected (all male) M no Mexico - - 0 - - EVR-2, EVR;FEVR, ND retinal detachment (HP:0030490), vitreoretinal haemorrhage (HP:0007902) NDP NDP 1 7 Jasmine Chen
00274679 Family 3 III:8 PubMed: Pelcastre 2010 4 generation family, 4 affected (male) M no Mexico - - 0 - - EVR-2, EVR;FEVR, ND exudative vitreoretinopathy (HP:0030490), bilateral phthisis (HP:0000667), subscapular cataract (HP:0000523) NDP NDP 1 4 Jasmine Chen
00274680 Family 4 III:1 PubMed: Pelcastre 2010 4 generation family, 8 affected (male) M no Mexico - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) NDP NDP 1 8 Jasmine Chen
00274681 Family 21 IV:2 PubMed: Musada 2013 4 generation family, 2 affected (1 male proband and mother) M yes India - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) NDP NDP 1 2 Jasmine Chen
00274682 Family 97 II:2 PubMed: Musada 2016 2 generation family, 1 affected M no India - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) NDP NDP 1 1 Jasmine Chen
00274683 Family 3 II:2 PubMed: Musada 2016 2 generation family, 2 affected (proband and mother) M no India - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490), vitreoretinal traction NDP NDP 1 2 Jasmine Chen
00274684 Family 72 IV:1 PubMed: Musada 2016 4 generation family, 3 affected F no India - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) NDP NDP 1 3 Jasmine Chen
00274685 Family 139 II:2 PubMed: Musada 2016 2 generation, 2 affected (1 severe, 1 mild) M no India - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) NDP NDP 1 2 Jasmine Chen
00274686 Family 85 II:1 PubMed: Musada 2016 2 generation, 1 affected (sporadic) M no India - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) NDP NDP 1 1 Jasmine Chen
00274687 Family 94 II:1 PubMed: Musada 2016 2 generation, 1 affected, sporadic M no India - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) NDP NDP 1 1 Jasmine Chen
00274688 Family 142 IV:1 PubMed: Musada 2016 4 generation family, 1 affected M yes India - - 0 - - EVR-2, EVR;FEVR - NDP NDP 1 1 Jasmine Chen
00274690 Family 108 III:2 PubMed: Musada 2016 3 generation family, 2 affected M no India - - 0 - - EVR-2, EVR;FEVR - NDP NDP 1 2 Jasmine Chen
00274691 Family 65 V:2 PubMed: Musada 2016 5 generation family, 1 affected M yes India - - 0 - - EVR-2, EVR;FEVR - NDP NDP 1 1 Jasmine Chen
00274890 Proband V:9 PubMed: Liu 2016 6 generation family, 7 affected M no China - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) NDP NDP 1 7 Jasmine Chen
00275004 Patient 1 PubMed: Drenser 2006 sporadic case ? ? United States - - 0 - - EVR-2, EVR;FEVR - NDP - 0 1 Jasmine Chen
00275006 Patient 2 PubMed: Drenser 2006 Check with Carmel as protein and coding sequence do not match on Name Checker family history present (no pedigree available) ? ? United States - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinpathy (HP:0030490) NDP NDP 1 1 Jasmine Chen
00275440 Family 2 III-1 PubMed: Kondo 2007 3 generation family, 1 affected M ? Japan - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490), retinal folds (HP:0008052) NDP NDP 1 1 Jasmine Chen
00275443 Family 4 III-1 PubMed: Kondo 2007 3 generation, 1 affected M no Japan - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490), low bone mineral density (HP:004349) NDP NDP 1 1 Jasmine Chen
00275445 Family 5 III-1 PubMed: Kondo 2007 3 generation, 3 affected M no Japan - - 0 - lensectomy EVR-2, EVR;FEVR, ND total retinal detachment (HP:0000541) NDP NDP 1 3 Jasmine Chen
00275447 Family 6 III-1 PubMed: Kondo 2007 3 generation, 2 affected M no Japan - - 0 - - EVR-2, EVR;FEVR, ND - NDP NDP 1 2 Jasmine Chen
00275449 - PubMed: Lin 2010 2 generation, 2 affected M ? Viet Nam - - 0 - - EVR-2, EVR;FEVR, ND - NDP NDP 1 1 Jasmine Chen
00275452 Pedigree 1 V-2 PubMed: Allen 2006 5 generation family (42 members), 9 affected M no United States - - 0 - - EVR-2, EVR;FEVR exudative vitreoretinopathy (HP:0030490), tractional retinal detachment (HP:0007197) NDP NDP 1 9 Jasmine Chen
00275456 Family 1 II:2 PubMed: Riveiro-Alvarez 2 generation, 1 affected (isolated) M no Spain - - 0 - - EVR-2, EVR;FEVR, ND microphthalmia (HP:0000568), sensorineural hearing loss (HP:0000407), developmental delay (HP:0001249) NDP NDP 1 1 Jasmine Chen
00275461 Family 2 II:2 PubMed: Riveiro-Alvarez 2005 Speak to Carmel - variants do not match Name Checker (and Frans Cremer's submission which should be the same as this one) under c.DNA 2 generation, 1 affected M no Spain - - 0 - - EVR-2, EVR;FEVR, ND microphthalmia (HP:0000568), phthisis bulbi (HP:00000667), hearing loss (HP:0000407), intellectual disability (HP:0001249) NDP - 0 1 Jasmine Chen
00275473 Family 1 IV:3 PubMed: Shastry 1997 4 generation, 3 affected, 3 unaffected male M no United States - - 0 - - EVR-2, EVR;FEVR - NDP NDP 1 3 Jasmine Chen
00275474 Family 2 III:2 PubMed: Shastry 1997 sporadic M no United States - - 0 - - EVR-2, EVR;FEVR - NDP NDP 1 1 Jasmine Chen
00275475 Family 3 III:4 PubMed: Shastry 1997 sporadic, 3 generation family M no United States - - 0 - - EVR-2, EVR;FEVR - NDP NDP 1 1 Jasmine Chen
00275477 Family 5 III:2 PubMed: Shastry 1997 sporadic, 3 generation family M no United States - - 0 - - EVR-2, EVR;FEVR - NDP NDP 1 1 Jasmine Chen
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