All individuals with variants in gene CRYAA

118 entries on 2 pages. Showing entries 1 - 100.
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00013443 - - - M - Germany - - - yes (pedigree) - FAP1 additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 38y 1 1 Stefan Aretz
00013444 - - - F - Germany - - - yes (pedigree) - FAP1 multiple epidermoid cysts; colorectal phenotype classical, several polyps; no colon cancer ; colectomy 25y IPAA 1 1 Stefan Aretz
00013446 - - - F - Germany - - - yes (pedigree) - FAP1 additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 35y 1 1 Stefan Aretz
00013540 - - - M - Germany - - - yes (pedigree) - FAP1 no additional phenotype data available 1 1 Stefan Aretz
00013689 - - - F - Germany - - - no (pedigree) - ? additional phenotype data available; colorectal phenotype normal no polyps; no colon cancer 1 1 Stefan Aretz
00033878 CCMC0101 PubMed: Hansen 2007, PubMed: Hansen 2009 3-generation family, affected mother and son M - Denmark - - - - - CTRCT microcornea; posterior polar progressing to dense nuclear/laminar, involvement anterior/posterior poles; congenital nystagmus 1 2 Lars Hansen
00033879 CC00105 PubMed: Hansen 2009 4-generation family, 12 affected (4F, 8M), incomplete penetrance F;M - Denmark - - - - - CTRCT congenital 1 12 Lars Hansen
00033880 CCMC0108 PubMed: Hansen 2007, PubMed: Hansen 2009 4-generation family, 5 affected Fs F - Denmark - - - - - CTRCT microcornea; central and zonular with various involvements anterior and posterior poles 1 5 Lars Hansen
00033881 CC00124 PubMed: Hansen 2009 4-generation family, 8 affected (3F, 5M) F;M - Denmark - - - - - CTRCT congenital; nystagmus 1 8 Lars Hansen
00033882 - - 4-generation family, 12 affecteds - - United States white - - - - CTRCT congenital; nuclear 1 12 Johan den Dunnen
00033883 CC00174 PubMed: Hansen 2009 2-generation family, affected mother and daugther F - - - - - - - CTRCT congenital cataract 1 2 Lars Hansen
00033884 - - 4-generation family, 3 affected Fs, 1 male F - India - - - - - CTRCT congenital; nonsyndromic presenile 4 4 Johan den Dunnen
00033885 CCMC0106 PubMed: Hansen 2007, PubMed: Hansen 2009, PubMed: Kessel 2021 5-generation family, 11 affecteds F;M - Denmark - - - - - CTRCT microcornea; nuclear with ramifications in different directions; congenital nystagmus 1 11 Lars Hansen
00033886 - - 4-generation family, 11 affecteds - - (India) - - - - - CTRCT microcornea; fan-shaped; microcornea syndrome 1 11 Lars Hansen
00033887 - - 4-generation family, 13 afffecteds - - United States - - - - - CTRCT microcornea; congenital zonular central nuclear opacities, congenital nystagmus; 5/13 affecteds microphthalmia and microcornea 2 13 Lars Hansen
00033888 - - 4-generation family, 12 affecteds - - France - - - - - CTRCT congenital; nuclear; iris coloboma, microphthalmia 3 12 Lars Hansen
00033902 - - 4-generation family, 3 affected sisters F yes Iran Jewish - - - - CTRCT congenital 2 6 Johan den Dunnen
00033903 - - 3 unrelated cases - - India - - - - - CTRCT age-related cataract 2 3 Johan den Dunnen
00033904 FamPatIV5 PubMed: Khan 2007, PubMed: Khan 2015 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - CTRCT nonsyndromic congenital total white cataract, microcornea 1 4 Johan den Dunnen
00033905 FamPatIV6 PubMed: Khan 2007, PubMed: Khan 2015 brother of 17937925-Fam.IV5 M yes Saudi Arabia - - - - - CTRCT nonsyndromic congenital total white cataract, microcornea 1 1 Johan den Dunnen
00033906 FamPatIV12 PubMed: Khan 2007, PubMed: Khan 2015 sister of 17937925-Fam.IV5 F yes Saudi Arabia - - - - - CTRCT nonsyndromic congenital total white cataract, microcornea 1 1 Johan den Dunnen
00033907 FamPatIV13 PubMed: Khan 2007, PubMed: Khan 2015 nephew of 17937925-Fam.IV5 M yes Saudi Arabia - - - - - CTRCT nonsyndromic congenital total white cataract, microcornea 1 1 Johan den Dunnen
00033908 - - - - - Germany - - - - - CTRCT congenital 2 1 Johan den Dunnen
00033909 - PubMed: Gu 2008 5-generation family, 20 affecteds - - China - - - - - CTRCT congenital; punctuate, nuclear, total; microcornea (1 individual) 1 20 Lars Hansen
00033910 - PubMed: Shafie 2006 4-generation family, 14 affecteds - - Chile - - - - - CTRCT congenital; nuclear opacities, posterior subcapsular cataracts, microcornea and/or corneal opacity 1 14 Johan den Dunnen
00033911 - - - - - Brazil - - - - - CTRCT - 1 10 Johan den Dunnen
00033923 - - - - - India - - - - - Healthy/Control - 1 24 Johan den Dunnen
00033924 - - - - - India - - - - - Healthy/Control - 2 6 Johan den Dunnen
00033925 - - - - - India - - - - - CTRCT - 1 121 Johan den Dunnen
00033926 - - - - - India - - - - - CTRCT - 2 56 Johan den Dunnen
00033927 - - 4-generation family, 12 affecteds - - China - - - - - CTRCT congenital 1 12 Johan den Dunnen
00033928 - - 3-generation family, 6 affecteds - - China - - - - - CTRCT congenital 1 6 Johan den Dunnen
00033929 - - 2-generation family, 3 affecteds - - Brazil - - - - - CTRCT congenital 2 3 Johan den Dunnen
00033930 - - affected mother and son - - India - - - - - CTRCT congenital 1 2 Johan den Dunnen
00033931 - - affected father and daugther - - India - - - - - CTRCT congenital 1 2 Johan den Dunnen
00033932 - - affected mother and son - - India - - - - - CTRCT congenital 1 2 Johan den Dunnen
00033982 - - affected father, dauther and son - - Brazil - - - - - CTRCT nuclear 1 3 Johan den Dunnen
00033989 - - - - - Brazil - - - - - CTRCT - 1 5 Johan den Dunnen
00033995 - PubMed: Gu 2008 5-generation family, 20 affecteds, partially consanguineous - - China - - - - - CTRCT congenital 1 20 Johan den Dunnen
00033996 - - 4-generation family, 14 affecteds - - Chile - - - - - CTRCT congenital; microcornea, corneal opacity 2 13 Johan den Dunnen
00033997 - PubMed: Xia 2006 - - - - - - - - - CTRCT small lens, microphthalmia 2 1 Johan den Dunnen
00033998 - PubMed: Chang 1999 - - - - - - - - - CTRCT - 2 1 Johan den Dunnen
00033999 - PubMed: Xia 2006 - - - - - - - - - CTRCT small lens 1 1 Johan den Dunnen
00034000 - PubMed: Graw 2001 - - - - - - - - - CTRCT microphthalmia 1 1 Johan den Dunnen
00034013 - - - - - China - - - - - CTRCT - 1 1 Johan den Dunnen
00034014 - - - - - China - - - - - Healthy/Control - 1 2 Johan den Dunnen
00034015 - - - - - China - - - - - Healthy/Control - 1 1 Johan den Dunnen
00034016 - - - - - China - - - - - Healthy/Control - 1 1 Johan den Dunnen
00034020 23255486-FamCSA91PatIII2 PubMed: Laurie 2013, Journal: Laurie 2013 3-generation family, 5 affecteds (F, 4M), PatIII2 M no Australia - - - - - CTRCT fetal nuclear lamellar cataract 1 5 Kathryn Burdon
00073106 25729975-FamPatIII6 PubMed: Kong 2015, Journal: Kong 2015 4-generation family, 10 affecteds (4F, 6M), PatIII6 F no China Chinese >33y - - - CCTRCT blurred vision (HP:0000622), poor eyesight (HP:?), ring with white particles (HP:?), no other eye discomfort (-HP:?) 1 10 Jamie Zeegers
00073113 23441109-FamAPatMC41 PubMed: Kondo 2013 3-generation family, 6-affecteds (3F, 3M), PatMC41 M - Korea Korean - - - - CCTRCT microphthalmia (HP:0000568), nystagmus (HP:0000639), amblyopia (HP:0000646), glaucoma (HP:0000501), esotropia (HP:0000565), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?) 1 6 Jamie Zeegers
00073115 23441109-FamAPatMC42 PubMed: Kondo 2013 PatMC42 F - Korea Korean - - - - CCTRCT no microphthalmia (-HP:0000568), nystagmus (HP:0000639), amblyopia (HP:0000646), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?) 1 1 Jamie Zeegers
00073134 26867756-FamCSA110Pat01 PubMed: Javadiyan 2016, Journal: Javadiyan 2016 4-generation family, 6-affecteds (3F, 3M), Pat01 F no Australia Australian >16y - - Surgery CCTRCT bilateral lamellar cataract (HP:0007971) 1 6 Jamie Zeegers
00073136 26867756-FamCSA110Pat03 PubMed: Javadiyan 2016, Journal: Javadiyan 2016 Pat03 F no Australia Australian >46y - - Surgery CCTRCT bilateral lamellar cataract (HP:0007971) 1 1 Jamie Zeegers
00073138 26867756-FamCSA110Pat07 PubMed: Javadiyan 2016, Journal: Javadiyan 2016 Pat07 M no Australia Australian - - - Surgery CCTRCT severe bilateral lamellar cataract (HP:0007971) 1 1 Jamie Zeegers
00073139 26867756-FamCSA110Pat04 PubMed: Javadiyan 2016, Journal: Javadiyan 2016 Pat04 F no Australia Australian >76y - - Surgery CCTRCT - 1 1 Jamie Zeegers
00073141 26867756-FamCSA110Pat05 PubMed: Javadiyan 2016, Journal: Javadiyan 2016 Pat05 M no Australia Australian >61y - - Surgery CCTRCT bilateral lamellar cataract (HP:0007971), anterior cortical spokes (HP:?) 1 1 Jamie Zeegers
00073142 26867756-FamCSA110Pat02 PubMed: Javadiyan 2016, Journal: Javadiyan 2016 Pat02 M - Australia Australian >20y - - - Healthy/Control no cataract (-HP:0000519) 1 1 Jamie Zeegers
00073168 23288997-FamPatIII5 PubMed: Dongmei 2012 3-generation family, 4 affecteds (2F, 2M) F - China Chinese >45y - - - CCTRCT y-suture cataracts (HP:0008031) 1 4 Jamie Zeegers
00073169 23288997-FamPatII7 PubMed: Dongmei 2012 PatII7 M - China Chinese >43y - - - CCTRCT y-suture cataracts (HP:0008031) 1 1 Jamie Zeegers
00073170 23288997-FamPatIII6 PubMed: Dongmei 2012 PatIII6 M - China Chinese >13y - - - CCTRCT y-suture cataracts (HP:0008031) 1 1 Jamie Zeegers
00073171 23288997-FamPatIII2 PubMed: Dongmei 2012 PatIII2 F - China Chinese - - - - CCTRCT y-suture cataracts (HP:0008031) 1 1 Jamie Zeegers
00102730 - - - F no China Chinese - - - - CTRCT Nuclear 1 1 Zongfu Cao
00293017 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00332086 F14‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - MCOP microphthalmia, microcornea, cataract 1 1 LOVD
00363774 G636 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... 1 1 LOVD
00382143 71 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - GLC1A congenital cataract; MIM, 123580 1 1 LOVD
00382144 287 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - GLC1A congenital cataract; MIM, 123580 1 1 LOVD
00385471 15007971 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00385479 15021428 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00385487 16001640 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00385529 17021643 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00385531 17026278 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00392267 16 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00434069 Pat1 PubMed: Li 2016 - - - China - - - - - CTRCT bilateral nuclear cataract 1 1 Johan den Dunnen
00434132 Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - CTRCT see paper; ..., total cataract 1 4 Johan den Dunnen
00434159 Fam04 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - CTRCT nuclear cataract; microphthalmia; no microcornea; no iris malformations 1 1 Johan den Dunnen
00434193 WCC10PatIII2 PubMed: Zhang 2018 3-generation family, 3 affected (2F, M) M - China - - - - - CTRCT exotropia 1 3 Johan den Dunnen
00434194 WCC12PatIII1 PubMed: Zhang 2018 3-generation family, 3 affected (2F, M) M - China - - - - - CTRCT - 1 3 Johan den Dunnen
00434195 WCC19PatIII1 PubMed: Zhang 2018 3-generation family, 3 affected (F, 2M) F - China - - - - - CTRCT posterior subcapsular opacity; nystagmus 1 3 Johan den Dunnen
00434290 CAT-27 PubMed: Zhuang 2019 3-generation family, 3 affected (F, 2M) F;M - China - - - - - CTRCT - 1 3 Johan den Dunnen
00434291 CAT-40 PubMed: Zhuang 2019 family - - China - - - - - CTRCT - 1 1 Johan den Dunnen
00434292 CAT-42 PubMed: Zhuang 2019 family - - China - - - - - CTRCT - 1 1 Johan den Dunnen
00441805 CSA159 PubMed: Javadiyan 2017 4-generation family, 6 affected (F, 5M) F;M - Australia - - - - - CTRCT see paper; ... 1 6 Johan den Dunnen
00441806 CRVEEH111 PubMed: Javadiyan 2017 3-generation family, 4 affected (2F, 2M) F;M - Australia - - - - - CTRCT see paper; ... 1 4 Johan den Dunnen
00444099 FamAPatIV9 PubMed: Berry 2020 5-generation family, 19 (13F, 6M) affected M - United Kingdom (Great Britain) - - - - - CTRCT see paper; ..., nuclear/lamellar cataract 1 19 Johan den Dunnen
00444105 FamG PubMed: Berry 2020 patient - - United Kingdom (Great Britain) - - - - - CTRCT see paper; ..., congenital cataract 1 1 Johan den Dunnen
00444140 FamA PubMed: Sun 2017 2-generation family, 4 affected (2F, 2M) F;M - China - - - - - CTRCT see paper; ..., microcornea, cataract/aphakia, optic disc and macular coloboma, nystagmus, blepharoptosis 1 4 Johan den Dunnen
00444326 Fam1PatII1 PubMed: Li 2018 2-generation family, affected father/daughter F - China - - - - - CTRCT perinuclear cararact, microphthalmia 1 2 Johan den Dunnen
00444864 Fam4 PubMed: Fan 2020 2-generation family, affected mother/sib - - China - - - - - CTRCT binocular, nuclear cataract 1 2 Johan den Dunnen
00444899 Fam16PatI2 PubMed: Ma 2016 3-generation family, 4 affected (2F, 2M) F - Australia - - - - - CTRCT see paper; ..., bilateral posterior cortical cataract, diffuse fine dot opacities, glaucoma, visual acuity R 6/6, L 6/15; granddaughter 5y-posterior cortical and fine dot cataracts, VA R6/18 L6/36; son 12y-zonular/pulverulent cataracts with central dot opacity, visual acuity 6/7.5 7/7 1 4 Johan den Dunnen
00444906 Fam23PatI1 PubMed: Ma 2016 2-generation family, affected father/2 sons M - Australia - - - - - CTRCT see paper; ..., bilateral cataract, glaucoma, severe visual loss; bilateral cataracts in two sons 1 3 Johan den Dunnen
00444942 10DG1375 PubMed: Patel 2017 family - - - - - - - - CTRCT congenital cataract; not syndromic 1 2 Johan den Dunnen
00445008 Pat22 PubMed: Reis 2013 - - - Canada white - - - - CTRCT congenital cataract, microcornea, coloboma, glaucoma, macrocephaly 1 1 Johan den Dunnen
00445073 CC0000856 PubMed: Kessel 2021 patient - - Denmark - - - - - CTRCT isolated cataract 1 1 Johan den Dunnen
00446377 Fam1 PubMed: Khidiyatova 2023 family, 2 affected - - Russia Tatar - - - - CTRCT see paper; ..., nuclear cataract, combined with microphthalmos and microcornea; later nystagmus, convergent strabismus 1 2 Johan den Dunnen
00446378 Fam2 PubMed: Khidiyatova 2023 patient - - Russia Bashkir - - - - CTRCT see paper; ..., posterior polar cataract 1 1 Johan den Dunnen
00446379 Fam3 PubMed: Khidiyatova 2023 patient - - Russia Bashkir - - - - CTRCT see paper; ..., cataract, lens subluxation 1 1 Johan den Dunnen
00446412 Fam2Pat2 PubMed: Liu 2023 4-generation family, 9 affected (4F, 5M) M - China - - - - - CTRCT bilateral congenital cataract 1 9 Johan den Dunnen
00446413 Fam2Pat8 PubMed: Liu 2023 relative F - China - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
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