All individuals with variants in gene CRYAB

43 entries on 1 page. Showing entries 1 - 43.
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00072253 - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, II3 F - China Chinese - 0 - - CTRCT-16;CTPP-2, CTRCT-2;CCL poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532) 1 6 Jamie Zeegers
00072254 - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, II4 M - China Chinese >17y 0 - - CTRCT-16;CTPP-2, CTRCT-2;CCL poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532) 1 1 Jamie Zeegers
00072255 - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, III1 M - China Chinese >20y 0 - - CTRCT-16;CTPP-2, CTRCT-2;CCL poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532) 1 1 Jamie Zeegers
00072256 - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, III4 F - China Chinese >19y 0 - - CTRCT-16;CTPP-2, CTRCT-2;CCL poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532) 1 1 Jamie Zeegers
00072257 - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, IV2 M - China Chinese >11y 0 - - CTRCT-16;CTPP-2, CTRCT-2;CCL poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532) 1 1 Jamie Zeegers
00072258 - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, IV5 F - China Chinese >08y 0 - - CTRCT-16;CTPP-2, CTRCT-2;CCL poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532) 1 1 Jamie Zeegers
00072260 - PubMed: Safieh 2009 Family, mother is affected, father is carrier and 4-affected siblings, I-2 F - Saudi Arabia Saudi >35y 0 - Surgery CCTRCT bilateral aphakia (HP:0007707), retinal dystrophic (HP:?), depressed retinal function (HP:?) 1 5 Jamie Zeegers
00072262 - PubMed: Safieh 2009 Family, mother is affected, father is carrier and 4-affected siblings, II-1 F - Saudi Arabia Saudi >16y 0 - Surgery CCTRCT right eye aphakia (HP:0007707), right eye retinal detachment (HP:0000541), left eye revealed nothing remarkable (HP:?) 1 1 Jamie Zeegers
00072263 - PubMed: Safieh 2009 Family, mother is affected, father is carrier and 4-affected siblings, II-2 F - Saudi Arabia Saudi >14y 0 - Surgery CCTRCT bilateral pseudophakia (HP:?), unremarkable retinal examination (HP:?) 1 1 Jamie Zeegers
00072264 - PubMed: Safieh 2009 Family, mother is affected, father is carrier and 4-affected siblings, II-7 M - Saudi Arabia Saudi >01y 0 - - CCTRCT no ocular abnormality (-HP:?), clinically insignificant fine opacities in the red reflect (HP:?) 1 1 Jamie Zeegers
00072265 - PubMed: Safieh 2009 Family, mother is affected, father is carrier and 4-affected siblings, II-4 F - Saudi Arabia Saudi - 0 - - CCTRCT visually insignificant lens opacities (HP:0000518), ophthalmic examination unremarkable (HP:?) 1 1 Jamie Zeegers
00072268 - PubMed: Jiaox 2015, Journal: Jiaox 2015 Family, 14-affected family members - yes Pakistan Pakistani - 0 - - CCTRCT congenital cataract (HP:0000519) 1 14 Jamie Zeegers
00072269 - PubMed: Jiaox 2015, Journal: Jiaox 2015 Family, 6-affected family members - yes Pakistan Pakistani - 0 - - CCTRCT congenital cataract (HP:0000519) 1 6 Jamie Zeegers
00103211 - - - M no Germany - - 0 - - RCM - 1 1 Andreas Brodehl
00205368 - PubMed: Inagaki 2006 - - - Japan - - 0 - - CMD - 1 1 Johan den Dunnen
00205369 - PubMed: Hahner 2000 - - - Germany - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00205370 - PubMed: Hahner 2000 - - - Germany - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00205371 - PubMed: Hahner 2000 - - - Germany - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00205372 - PubMed: Van Veen 2003 - - - Netherlands - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00205373 - PubMed: Van Veen 2003 - - - Netherlands - - 0 - - Healthy/Control - 2 1 Johan den Dunnen
00205374 - PubMed: Hahner 2000 - - - Germany - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00205375 - PubMed: Hahner 2000 - - - Germany - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00205376 - PubMed: Van Veen 2003 - - - Netherlands - - 0 - - ? increased susceptibility multiple sclerosis and disease expression influenced; increased likelihood of a noninflammatory, neurodegenerative phenotype characterized by a relatively rapid, primary progressive clinical disease course 1 1 Johan den Dunnen
00205377 - PubMed: Van Veen 2003 - - - Netherlands - - 0 - - ? reduced in cases 1 1 Johan den Dunnen
00205378 - - - - - (United States) - - 0 - - MFM - 1 1 Tom Winder
00205379 - PubMed: Liu 2006 4-generation family, 13 affecteds - - China - - 0 - - CTRCT cataract, posterior polar (CTPP2) 1 14 Johan den Dunnen
00205380 - PubMed: Fardeau 1978 3-generation family, 11 affecteds - - France - - 0 - - ? myopathy, weakness proximal/distal limb muscle (incl. neck, velopharynx trunk muscles), cardiomyopathy signs, cataract; DES aggregates 1 11 Johan den Dunnen
00205381 - PubMed: Liu 2006 5-generation family, 12 affecteds - - China - - 0 - - CTRCT cataract, lamellar 1 12 Johan den Dunnen
00205382 - PubMed: Berry 2001, OMIM:var0002 5-generation family, 16 affecteds - - United Kingdom (Great Britain) - - 0 - - CTRCT posterior polar cataract (CTPP2) 1 16 Johan den Dunnen
00205383 - PubMed: Selcen 2003 - M - United States - >53y 0 - - MFM no elevated serum creatine phosphokinase (-HP:003236) ; slowly progressive leg weakness, atrophy with bilateral foot drop, occasional cramping/stiffness leg muscles after exercise, severe weakness anterior tibial, toe extensor, peroneal muscles, mild weakness quadriceps, iliopsoas, hamstring, finger extensor muscles 1 1 Johan den Dunnen
00205384 - PubMed: Selcen 2003 - M - United States - 58y 0 - - MFM elevated serum creatine phosphokinase (HP:003236) 6.4x; 1 1 Johan den Dunnen
00205385 - PubMed: Inagaki 2006 2 siblings (56y, 66y) CMD, sudden cardiac death 2 other siblings (60y 72y) F - Japan - >71y 0 - - CMD mild, slowly expressed; >40y-developed cardiac symptoms, ECG apparent inverted T waves V4–V6, ventricular tachycardia 1 5 Johan den Dunnen
00205386 - PubMed: Pilotto 2006 potentially affected father died at 80y after 20y congestive heart failure (DCM) F - Italy - >48y 0 - - CMD mildly elevated serum creatine phosphokinase (HP:008180) ; mild left ventricular dilation (LVEF=30%), restrictive transmittal flow pattern, mild mitral regurgitation, ECG sinus rhythm, negative T waves precordial leads (V4–V6), Holter ECG no arrhythmias, cataract absent 1 1 Johan den Dunnen
00205387 - PubMed: Reilich 2010 mother >60y bilateral foot extensor weakness, maternal grandfather cardiomyopathy M - Germany - >73y 0 - - MFM elevated serum creatine phosphokinase (HP:003236) 1.5-2.5x; late-onset distal vacuolar myopathy (protein aggregates); affected finger flexors, mild swallowing difficulties (fluids), coronary heart disease, intermittent atrial fibrillations, diabetes mellitus, hyperlipidemia, hypertonia 1 1 Johan den Dunnen
00205388 - PubMed: Devi 2008 2 affected brothers - - India - - 0 - - CTRCT cataract, lamellar 1 2 Johan den Dunnen
00289133 P2 PubMed: Evilä 2016 - - - Netherlands - - 0 - - MYOP distal myopathy 1 1 Johan den Dunnen
00314191 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
00316821 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - CM - 1 1 Johan den Dunnen
00317717 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00334641 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - 0 - - retinal disease - 1 7 LOVD
00334642 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - 0 - - retinal disease - 1 7 LOVD
00385470 15004858 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - 0 - - retinal disease - 1 1 LOVD
00385494 16014046 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - 0 - - retinal disease - 1 1 LOVD
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