Disease #00296 (CTRCT (cataract (CTRCT)))

Official abbreviation CTRCT
Name cataract (CTRCT)
OMIM ID -
Inheritance -
Individuals reported having this disease 380
Phenotype entries for this disease 362
Associated with 9 genes CASP7, CRYBA4, CRYGC, FYCO1, GJA3, HSF4, LIM2, MIP, SOLH
Associated tissues -
Disease features -
Remarks -
Date created 2014-01-16 08:42:13 +01:00 (CET)
Date last edited 2015-03-07 14:30:33 +01:00 (CET)


Individuals

380 entries on 4 pages. Showing entries 1 - 100.
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AscendingIndividual ID     
ID_report     
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VIP     
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Disease     
Phenotype details     
Genes screened
Variants in genes
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Owner     
00004214 FamPatI1 PubMed: Hansen 2014, Journal: Hansen 2014 3-generation family, 9 affected (5F, 4M) F no Denmark Danish - - - - CTRCT - ACACA, UNC45B ACACA, UNC45B 2 9 Lars Hansen
00016314 - - - - - - - - - - - CTRCT - PXDN PXDN 2 1 Anne Slavotinek
00025020 - - 2-generation family, 2 affecteds, patient I.2 F yes Germany white - - - - CTRCT complete bilateral dense white autosomal recessive congenital cataract - CYFIP1, NPHS1, SIPA1L3, ZNF717 4 1 Inst.Human Genetics - Heidelberg
00025118 - - 2-generation family, sister of PatI.2 F yes Germany white - - - - CTRCT complete bilateral dense white autosomal recessive congenital cataract - CYFIP1, NPHS1, SIPA1L3, ZNF717 4 1 Inst.Human Genetics - Heidelberg
00033859 - - 7-generation family, 30 affecteds - - United States - - - - - CTRCT with variable zonular pulverulent; severity varied fromsubtle unilateral zonular pulverulent cataract not impairing visual function to dense bilateral nuclear cataracts resulting in blindness CRYGC CRYGC 1 30 Johan den Dunnen
00033860 - - 4-generation family, mother and 2 children F - India - - - - - CTRCT congenital lamellar cataract CRYGC CRYGC 1 3 Johan den Dunnen
00033861 - - - - - India - - - - - CTRCT congenital CRYGC CRYGC 1 3 Johan den Dunnen
00033862 - - 4-generation family, 11 affecteds - - United States - - - - - CTRCT punctate cataract, juvenile progressive CRYGD CRYGD 1 11 Johan den Dunnen
00033863 - - 6-generation family, 25 affecteds - - China - - - - - CTRCT coralliform/nuclear CRYGD CRYGD 1 25 Johan den Dunnen
00033864 - - affected father and daugther - - India - - - - - CTRCT lamellar CRYGD CRYGD 1 2 Johan den Dunnen
00033865 - - 5-generation family, 19 affecteds - - Morocco - - - - - CTRCT cerulean CRYGD CRYGD 1 19 Johan den Dunnen
00033866 - - 4-generation family, 8 affecteds - - United States white - - - - CTRCT coral-shaped, coralliform CRYGD CRYGD 1 8 Johan den Dunnen
00033867 family PubMed: Plotnikova 2007 7-generation family, 77 affecteds - - Mongolia Asian, central; white - - - - CTRCT congenital; nonnuclear polymorphic congenital cataract CRYGD CRYGD 1 77 Johan den Dunnen
00033868 - - 4-generation family, 7 affecteds - - China - - - - - CTRCT nuclear golden crystal CRYGD CRYGD 1 7 Johan den Dunnen
00033869 - - 4-generation family, 5 affecteds - - Switzerland - - - - - CTRCT aculeiform CRYGD CRYGD 1 5 Johan den Dunnen
00033870 - - affected brother and sister, parents not a carrier - - Mexico - - - - - CTRCT nuclear CRYGD CRYGD 1 2 Johan den Dunnen
00033871 CCMC0109 PubMed: Hansen 2007, PubMed: Hansen 2009 affected mother and daugther F - Denmark - - - - - CTRCT congenital cataract, total or nearly total; microcornea CRYGD CRYGD 1 2 Johan den Dunnen
00033872 - - 3-generation family, affected father and daugther - - India - - - - - CTRCT central nuclear CRYGD CRYGD 1 2 Johan den Dunnen
00033873 - - 6-generation family, 14 affecteds - - China - - - - - CTRCT progressive polymorphic cortical CRYGS CRYGS 1 14 Johan den Dunnen
00033874 - PubMed: Basti 1996 3-generation family, 10 affecteds - - India - - - - - CTRCT congenital zonular; sutural opacities CRYBA1 CRYBA1 1 10 Lars Hansen
00033875 - - 3-generation family, 13 affecteds - - Brazil - - - - - CTRCT congenital; zonular; sutural opacities CRYBA1 CRYBA1 3 13 Johan den Dunnen
00033876 - - 4-generation family, 14 affecteds - - China - - - - - CTRCT congenital CRYBA1 CRYBA1 1 14 Johan den Dunnen
00033877 - - 6-generation family, 20 affecteds - - United Kingdom (Great Britain) - - - - - CTRCT congenital CRYBA1 CRYBA1 1 20 Lars Hansen
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 CRYAA CRYAA 1 2 Lars Hansen
00033879 CC00105 PubMed: Hansen 2009 4-generation family, 12 affected (4F, 8M), incomplete penetrance F;M - Denmark - - - - - CTRCT congenital CRYAA CRYAA 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 CRYAA CRYAA 1 5 Lars Hansen
00033881 CC00124 PubMed: Hansen 2009 4-generation family, 8 affected (3F, 5M) F;M - Denmark - - - - - CTRCT congenital; nystagmus CRYAA CRYAA 1 8 Lars Hansen
00033882 - - 4-generation family, 12 affecteds - - United States white - - - - CTRCT congenital; nuclear CRYAA CRYAA 1 12 Johan den Dunnen
00033883 CC00174 PubMed: Hansen 2009 2-generation family, affected mother and daugther F - - - - - - - CTRCT congenital cataract CRYAA CRYAA 1 2 Lars Hansen
00033884 - - 4-generation family, 3 affected Fs, 1 male F - India - - - - - CTRCT congenital; nonsyndromic presenile CRYAA, CRYGD CRYAA, CRYGD 6 4 Johan den Dunnen
00033885 CCMC0106 PubMed: Hansen 2007, PubMed: Hansen 2009 5-generation family, 11 affecteds F;M - Denmark - - - - - CTRCT microcornea; nuclear with ramifications in different directions; congenital nystagmus CRYAA CRYAA 1 11 Lars Hansen
00033886 - - 4-generation family, 11 affecteds - - (India) - - - - - CTRCT microcornea; fan-shaped; microcornea syndrome CRYAA CRYAA 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 CRYAA CRYAA 2 13 Lars Hansen
00033888 - - 4-generation family, 12 affecteds - - France - - - - - CTRCT congenital; nuclear; iris coloboma, microphthalmia CRYAA CRYAA 3 12 Lars Hansen
00033889 - - 5-generation family, 9 affecteds - - India - - - - - CTRCT congenital, cerulean type (CCA2) CRYBB2, CRYGA, CRYGB CRYBB2, CRYGA, CRYGB 10 9 Johan den Dunnen
00033890 - - 4-generation family, 18 affecteds (1 homozygous) - - United States - - - - - CTRCT congenital, cerulean type (CCA2); Cerulean blue CRYBB2 CRYBB2 1 17 Johan den Dunnen
00033891 - - 4-generation family, 13 affecteds - - Switzerland - - - - - CTRCT cataract, Coppock-like (CCL); pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) CRYBB2 CRYBB2 1 13 Johan den Dunnen
00033892 - - 5-generation family, 19 affecteds - - China - - - - - CTRCT cataract, congenital; progressive polymorphic CRYBB2 CRYBB2 1 19 Johan den Dunnen
00033893 - - 5-generation family, 33 affecteds - - India - - - - - CTRCT cataract, sutural, punctate and cerulean opacities (CSPC); sutural and cerulean opacities CRYBB2 CRYBB2 2 33 Johan den Dunnen
00033894 CC00156 PubMed: Hansen 2009 3-generation family, 2 affecteds (F) F - Denmark - - - - - CTRCT - CRYBB2 CRYBB2 1 2 Johan den Dunnen
00033895 - PubMed: Billingsley 2006 - - - - - - - - - CTRCT microphthalmia CRYBA4 CRYBA4 1 1 Johan den Dunnen
00033896 - PubMed: Billingsley 2006 4-generation family, 21 affected Fs, 1 male - - India - - - - - CTRCT congenital; microphthalmia CRYBA4 CRYBA4 1 21 Johan den Dunnen
00033897 CCMC0102 PubMed: Hansen 2009 affected father and son M - Denmark - - - - - CTRCT congenital cataract CRYBB3 CRYBB3 1 2 Johan den Dunnen
00033898 - - 4-generation family, 4 affecteds - yes Pakistan - - - - - CTRCT congenital CRYBB3 CRYBB3 2 5 Johan den Dunnen
00033899 - PubMed: Cohen 2007 6-generation family, 10 affecteds - yes Israel Bedouin - - - - CTRCT congenital cataract CRYBB1 CRYBB1 2 10 Johan den Dunnen
00033900 - PubMed: Mackay 2002 4-generation family, 8 affecteds - - United States - - - - - CTRCT congenital cataract, fine, dustlike opacities that mainly affect central zone or fetal nucleus, lens but also affected cortex, anterior and posterior Y-suture regions CRYBB1 CRYBB1 1 8 Johan den Dunnen
00033901 - PubMed: Willoughby 2005 3-generation family, 11 affecteds - - United Kingdom (Great Britain) - - - - - CTRCT congenital cataract, dense and nuclear but included cortical fibers (riders) and anterior and posterior polar opacities microcornea CRYBB1 CRYBB1 1 11 Johan den Dunnen
00033902 - - 4-generation family, 3 affected sisters F yes Iran Jewish - - - - CTRCT congenital CRYAA CRYAA 2 6 Johan den Dunnen
00033903 - - 3 unrelated cases - - India - - - - - CTRCT age-related cataract CRYAA CRYAA 2 3 Johan den Dunnen
00033904 - - 4-generation family, affected F - yes Saudi Arabia - - - - - CTRCT nonsyndromic congenital total white cataract, microcornea CRYAA CRYAA 2 1 Johan den Dunnen
00033905 - - brother of 17937925-Fam.IV5 - yes Saudi Arabia - - - - - CTRCT nonsyndromic congenital total white cataract, microcornea CRYAA CRYAA 2 1 Johan den Dunnen
00033906 - - sister of 17937925-Fam.IV5 - yes Saudi Arabia - - - - - CTRCT nonsyndromic congenital total white cataract, microcornea CRYAA CRYAA 2 1 Johan den Dunnen
00033907 - - nephew of 17937925-Fam.IV5 - yes Saudi Arabia - - - - - CTRCT nonsyndromic congenital total white cataract, microcornea CRYAA CRYAA 2 1 Johan den Dunnen
00033908 - - - - - Germany - - - - - CTRCT congenital CRYAA, CRYBB2 CRYAA, CRYBB2 6 1 Johan den Dunnen
00033909 - PubMed: Gu 2008 5-generation family, 20 affecteds - - China - - - - - CTRCT congenital; punctuate, nuclear, total; microcornea (1 individual) CRYAA CRYAA 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 CRYAA CRYAA 1 14 Johan den Dunnen
00033911 - - - - - Brazil - - - - - CTRCT - CRYAA CRYAA 1 10 Johan den Dunnen
00033912 - - 4-generation family, 9 affecteds - - China - - - - - CTRCT congenital; early childhood bilateral and symmetrical pulverulent nuclear cataracts CRYBA1 CRYBA1 2 9 Johan den Dunnen
00033913 - - 4-generation family, 5 affecteds - - China - - - - - CTRCT congenital; early childhood bilateral and symmetrical pulverulent nuclear cataracts CRYBA1 CRYBA1 2 5 Johan den Dunnen
00033922 - - family, 3 affecteds - - Mexico - - - - - CTRCT congenital CRYGC CRYGC 1 3 Johan den Dunnen
00033925 - - - - - India - - - - - CTRCT - CRYAA CRYAA 1 121 Johan den Dunnen
00033926 - - - - - India - - - - - CTRCT - CRYAA CRYAA 2 56 Johan den Dunnen
00033927 - - 4-generation family, 12 affecteds - - China - - - - - CTRCT congenital CRYAA CRYAA 1 12 Johan den Dunnen
00033928 - - 3-generation family, 6 affecteds - - China - - - - - CTRCT congenital CRYAA CRYAA 1 6 Johan den Dunnen
00033929 - - 2-generation family, 3 affecteds - - Brazil - - - - - CTRCT congenital CRYAA CRYAA 2 3 Johan den Dunnen
00033930 - - affected mother and son - - India - - - - - CTRCT congenital CRYAA CRYAA 1 2 Johan den Dunnen
00033931 - - affected father and daugther - - India - - - - - CTRCT congenital CRYAA CRYAA 1 2 Johan den Dunnen
00033932 - - affected mother and son - - India - - - - - CTRCT congenital CRYAA CRYAA 1 2 Johan den Dunnen
00033933 - - 5-generation family, 14 affecteds - - Switzerland - - - - - CTRCT congenital CRYBA1 CRYBA1 1 14 Johan den Dunnen
00033934 - - 4-generation family, 18 affecteds - - India - - - - - CTRCT congenital CRYBA1 CRYBA1 1 18 Johan den Dunnen
00033935 - - 4-generation family, 19 affecteds - - China - - - - - CTRCT congenital CRYBA1 CRYBA1 1 9 Johan den Dunnen
00033936 - - 4-generation family, 21 affecteds - - Australia European - - - - CTRCT congenital CRYBA1 CRYBA1 1 21 Johan den Dunnen
00033940 - - - - - - - - - - - CTRCT microphthalmia CRYBA4 CRYBA4 1 1 Johan den Dunnen
00033942 - - - - - - - - - - - CTRCT microphthalmia CRYBA4 CRYBA4 1 2 Johan den Dunnen
00033943 - - - - - - - - - - - CTRCT microphthalmia CRYBA4 CRYBA4 1 2 Johan den Dunnen
00033944 - - - - - - - - - - - CTRCT microphthalmia CRYBA4 CRYBA4 1 2 Johan den Dunnen
00033945 - - - - - - - - - - - CTRCT microphthalmia CRYBA4 CRYBA4 1 2 Johan den Dunnen
00033950 - PubMed: Cohen 2007 3-generation family, 6 affecteds - yes Israel Bedouin - - - - CTRCT congenital cataract CRYBB1 CRYBB1 2 12 Johan den Dunnen
00033951 - PubMed: Wang 2007 4-generation family, 7 affecteds - - China - - - - - CTRCT congenital cataract CRYBB1 CRYBB1 1 7 Johan den Dunnen
00033952 - PubMed: Yang 2008 3-generation family, 10 affecteds - - China - - - - - CTRCT congenital cataract CRYBB1 CRYBB1 1 10 Johan den Dunnen
00033953 - PubMed: Meyer 2009 2-generation family, 4 affected brothers - yes United Kingdom (Great Britain) Somali - - - - CTRCT congenital cataract CRYBB1 CRYBB1 2 8 Johan den Dunnen
00033954 - - homozygous case Fam ADCC-1 - - United States - - - - - CTRCT congenital, cerulean type (CCA2); Cerulean blue CRYBB2 CRYBB2 2 1 Johan den Dunnen
00033955 - - unrelated patient - - Switzerland - - - - - CTRCT congenital, cerulean type (CCA2) CRYBB2 CRYBB2 1 1 Johan den Dunnen
00033956 - - 4-generation family, 13 affecteds - - Switzerland - - - - - CTRCT cataract, Coppock-like (CCL); pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) CRYBB2 CRYBB2 1 13 Johan den Dunnen
00033957 - - different families - - India - - - - - CTRCT - CRYBB2 CRYBB2 1 6 Johan den Dunnen
00033958 - - different families - - India - - - - - CTRCT - CRYBB2 CRYBB2 1 4 Johan den Dunnen
00033959 - - - - - India - - - - - CTRCT - CRYBB2 CRYBB2 1 1 Johan den Dunnen
00033960 - - 4-generation family, 19 affecteds - - Chile - - - - - CTRCT same morphology and density in each eye (HP:?), pulverulent embryonal cataract (HP:0010693), pulverulent cortical opacities (HP:0010694), dense posterior star-shaped subcapsular cataract (HP:0007787) with pulverulent opacities in the cortical and embryonal regions, dense embryonal cataracts (HP:?) CRYBB2 CRYBB2 2 19 Johan den Dunnen
00033961 - PubMed: Pauli 2007 mother, has affected son and daugther - - Germany - - - - - CTRCT congenital, nuclear with additional ring-shaped cortical opacity CRYBB2 CRYBB2 1 3 Johan den Dunnen
00033962 - PubMed: Li 2008 5-generation family, 18 affecteds - - China - - - - - CTRCT congenital; progressive polymorphic congenital coronary CRYBB2 CRYBB2 1 18 Johan den Dunnen
00033963 - - - - - - - - - - - CTRCT progressive opacity CRYBB2 CRYBB2 2 1 Johan den Dunnen
00033964 - - - - - - - - - - - CTRCT progressive opacity CRYBB2 CRYBB2 1 1 Johan den Dunnen
00033965 - - - - - - - - - - - CTRCT - CRYBB2 CRYBB2 1 1 Johan den Dunnen
00033966 CC00133 PubMed: Hansen 2009 affected mother and daugther F - Denmark - - - - - CTRCT - CRYBB2 CRYBB2 10 2 Johan den Dunnen
00033967 - - 3-generation family, 6 affecteds ? - Lesotho Basotho - - - - CTRCT congenital CRYBB2 CRYBB2 1 6 Johan den Dunnen
00033968 - - 4-generation family, 2 affecteds - yes Pakistan - - - - - CTRCT congenital CRYBB3 CRYBB3 2 3 Johan den Dunnen
00033971 - - - - - India - - - - - CTRCT congenital CRYGC CRYGC 1 1 Johan den Dunnen
00033972 - - 4-generation family, 9 affecteds - - Mexico - - - - - CTRCT congenital CRYGC CRYGC 1 9 Johan den Dunnen
00033973 - - 3-generation family, 7 affecteds - - China - - - - - CTRCT congenital; nuclear CRYGC CRYGC 1 7 Johan den Dunnen
00033974 - - 4-generation family, 7 affecteds - - China - - - - - CTRCT congenital; nuclear cataracts, microcornea CRYGC CRYGC 1 7 Johan den Dunnen
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