All individuals with variants in gene VCAN

42 entries on 1 page. Showing entries 1 - 42.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00079999 - - - - no France - - - - - WGVRP - 1 1 Burin des Roziers Cyril
00080000 - - - ? - - - - - - - WGVRP - 1 1 Burin des Roziers Cyril
00081742 - PubMed: Miyamoto 2005, Journal: Miyamoto 2005 4-generation family, 13 affecteds (6F, 7M) F;M yes Japan - - - - - WGVRP see paper; ..., ocular phenotypes includes empty vitreous with fibrillary condensations, avascular membrane, perivascular sheathing, progressive chorioretinal dystrophy (similar to Wagner syndrome) 1 13 Johan den Dunnen
00081743 - PubMed: Kloeckener-Gruissem 2006, Wagner 1938, Augenheilkd. 100:840-858 5-generation family, 36 affecteds (17F, 19M) F;M - Switzerland - - - - - WGVRP see paper; ... 2 36 Johan den Dunnen
00144158 - PubMed: Katagiri 2014 index patient M no Japan Japanese - - - - retinal disease - 1 1 Rob W.J. Collin
00245766 RED - - F - - - - - - - MR;ID - 2 1 Karine Poirier
00276089 FamB PubMed: Kastner 2015 5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M - Turkey - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00293918 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 120 Mohammed Faruq
00293919 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 36 Mohammed Faruq
00305043 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00335997 - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00358946 Case71134 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00358957 Case71918 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00372677 RP236 PubMed: Xu 2014 patient M - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372685 RP056 PubMed: Xu 2014 patient M - China - - - - - retinal disease see paper; ... 1 1 LOVD
00375410 RP#001 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00375412 RP#003 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00375425 RP#019 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00375427 RP#021 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00375432 RP#027 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00381019 - PubMed: Chen-2013 - M - China Chinese - - - - retinal disease - 1 1 LOVD
00381021 - PubMed: Chen-2013 - - - China Chinese - - - - retinal disease - 1 1 LOVD
00389407 691 PubMed: Weisschuh 2020 Filing key number: 250, unclassified / mixed, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00414353 WHP20 PubMed: Sun 2018 - M - China - - - - - ? - 1 1 LOVD
00417399 FamW95-023 PubMed: Mukhopadhyay 2006 5-generation family, 19 affected (7F, 12M) F;M no Netherlands - - - - - WGVRP see paper 1 19 Johan den Dunnen
00417400 FamW95-131 PubMed: Mukhopadhyay 2006 5-generation family, 35 affected (17F, 11M) F;M no Netherlands - - - - - WGVRP see paper 1 35 Johan den Dunnen
00417401 FamW95-038 PubMed: Mukhopadhyay 2006 3-generation family, 9 affected (3F, 4M) F;M no Netherlands - - - - - WGVRP see paper 1 9 Johan den Dunnen
00417402 FamW04-153 PubMed: Mukhopadhyay 2006 5-generation family, 17 affected (6F, 11M) F;M no Netherlands - - - - - WGVRP see paper 1 17 Johan den Dunnen
00417403 FamW95-124 PubMed: Mukhopadhyay 2006 4-generation family, 10 affected (6F, 4M) F;M no Netherlands - - - - - WGVRP see paper 1 10 Johan den Dunnen
00417404 FamW05-088 PubMed: Mukhopadhyay 2006 4-generation family, 13 affected (4F, 7M) F;M no Netherlands - - - - - WGVRP see paper 1 13 Johan den Dunnen
00417405 FamW95-137 PubMed: Mukhopadhyay 2006 3-generation family, 2 affected (2M), father/son M no Netherlands - - - - - WGVRP see paper 1 13 Johan den Dunnen
00417406 family PubMed: Brezin 2011 5-generation family, 13 affected (7F, 6M) F;M - France - - - - - WGVRP see paper 1 13 Johan den Dunnen
00417407 FamFL PubMed: Kloeckener-Gruissem 2013 4-generation family 21 affected (10F, 11M) F;M - France - - - - - WGVRP see paper 1 21 Johan den Dunnen
00417408 FamBC PubMed: Kloeckener-Gruissem 2013 5-generation family, 14 affected (11F, 3M) F;M - United Kingdom (Great Britain) - - - - - WGVRP see paper 1 14 Johan den Dunnen
00424062 1 PubMed: Ronan 2009 3-generation family, proband's maternal grandfather M - - white - - - - WGVRP ophtalmological examinations right, left eye (no view of fundus because of opacity of anterior ocular media): best corrected visual acuity: hand movement, 20/25; recent refraction spherical equivalent: -0.875, 0.25; past (presurgical) refraction spherical equivalent: not available, not available; axial length, mm: not available, 23.44; lens status: anterior chamber intraocular lens pupillary membrane, anterior chamber intraocular lens; retinal detachment age, y:not available; surgery: cataract extraction/intraocular lens tube shunt, cataract extraction/intraocular lens; optically empty vitreous: not available, yes; vitreal avascular membranes: not available, yes; retinal traction: not available, none; chorioretinal atrophy: not available, mild; retinal pigmentary changes: not available, mild; ocular alignment: orthophoria, orthophoria; visual field: not available, paracentral scotoma 1 1 LOVD
00424063 4 PubMed: Ronan 2009 3-generation family, proband's mother F - - white - - - - WGVRP ophtalmological examinations right, left eye: best corrected visual acuity: 20/20, 20/25; recent refraction spherical equivalent: -2, -0.25; past (presurgical) refraction spherical equivalent: not available, not available; axial length, mm: 24.69, 24.46; lens status: posterior chamber intraocular lens, posterior chamber intraocular lens; retinal detachment age, y:not available; surgery: cataract extraction/intraocular lens, cataract extraction/intraocular lens; optically empty vitreous: yes, yes; vitreal avascular membranes: yes, yes; retinal traction: moderate, moderate; chorioretinal atrophy: moderate, moderate; retinal pigmentary changes: moderate, moderate; ocular alignment: exotropia, exotropia; visual field: ring scotoma, ring scotoma 1 1 LOVD
00424064 6 PubMed: Ronan 2009 3-generation family, proband's mother's sister F - - white - - - - WGVRP ophtalmological examinations right, left eye (no view of fundus because of opacity of anterior ocular media): best corrected visual acuity: no light perception, 20/400; recent refraction spherical equivalent: not available, Plano; past (presurgical) refraction spherical equivalent: not available, not available; axial length, mm: not available, 22.38; lens status: Dense nuclear sclerotic cataract, posterior chamber intraocular lens; retinal detachment age, y:5; surgery: scleral buckle/pars plana vitrectomy, none; optically empty vitreous: not available, yes; vitreal avascular membranes: not available, yes; retinal traction: not available, mild; chorioretinal atrophy: not available, severe; retinal pigmentary changes: not available, severe; ocular alignment: exotropia, exotropia; visual field: not available, severe constriction 1 1 LOVD
00424065 8 PubMed: Ronan 2009 3-generation family, proband M - - white - - - - WGVRP ophtalmological examinations right, left eye: best corrected visual acuity: 20/20, 20/32; recent refraction spherical equivalent: not available, -1; past (presurgical) refraction spherical equivalent: (age 14 y) -1.00 + 1.00 x 90, (age 14 y) -1.00 + 2.00 x 90; axial length, mm: 24.56, 25.07; lens status: Clear, Clear; retinal detachment age, y:not available; surgery: none, scleral buckle/pars plana vitrectomy; optically empty vitreous: yes, yes; vitreal avascular membranes: yes, yes; retinal traction: severe, severe; chorioretinal atrophy: none, none; retinal pigmentary changes: none, none; ocular alignment: orthophoria, orthophoria; visual field: enlarged blind spot, paracentral scotoma 1 1 LOVD
00424066 10 PubMed: Ronan 2009 3-generation family, proband's mother's sister's son M - - white - - - - WGVRP ophtalmological examinations right, left eye (no view of fundus because of opacity of anterior ocular media): best corrected visual acuity: no light perception, 20/160; recent refraction spherical equivalent: not available, -0.25; past (presurgical) refraction spherical equivalent: (age 4 y) +2.50 sph, (age 4 y) +2.50 sph; axial length, mm: not available, 22.18; lens status: Dense nuclear sclerotic cataract, Clear; retinal detachment age, y:9; surgery: scleral buckle/pars plana vitrectomy, none; optically empty vitreous: not available, yes; vitreal avascular membranes: not available, yes; retinal traction: not available, moderate; chorioretinal atrophy: not available, severe; retinal pigmentary changes: not available, severe; ocular alignment: orthophoria, orthophoria; visual field: not available, moderate constriction 1 1 LOVD
00424067 11 PubMed: Ronan 2009 3-generation family, proband's mother's sister's daughter F - - white - - - - WGVRP ophtalmological examinations right, left eye: best corrected visual acuity: 20/200, 20/50; recent refraction spherical equivalent: -3.25, 0.75; past (presurgical) refraction spherical equivalent: (age 2.5 y) 1.25 + 3.00 x 90, (age 2.5 y) -1.50+ 4.25 x 95; axial length, mm: 23.62, 22.85; lens status: posterior subcapsular cataract, Clear; retinal detachment age, y:8; surgery: scleral buckle/pars plana vitrectomy, none; optically empty vitreous: not availabled, yes; vitreal avascular membranes: not availabled, yes; retinal traction: none, none; chorioretinal atrophy: moderate, moderate; retinal pigmentary changes: none, none; ocular alignment: exotropia, exotropia; visual field: nasal scotoma, superior scotoma 1 1 LOVD
00451661 3bINP-047 PubMed: Vela-Amieva 2024 Parents with inbreeding and consanguinity (not molecularly tested). Co-occurrence of two different monogenic diseases F yes Mexico Mexican - - - - DIAR4 Growth delay, Type 1 diabetes. Cataract, Intellectual disability, Hepatomegaly. Co-ocurrence with Wagner syndrome 1 (OMIM: 143200) 1 1 Miriam Erandi Reyna-Fabián
00454553 Pat309 PubMed: Xie 2024 patient M - China - - - - not treated MD Hepatic dysfunction, Wagner syndrome?; no Gowers' sign; hypertrophy gastrocnemius; limb muscle force 5; 10m walk 7.64 sec; elevated serum CK level (10551 U/L); no family history 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.