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

Official abbreviation CTRCT
Name cataract (CTRCT)
OMIM ID -
Inheritance -
Individuals reported having this disease 948
Phenotype entries for this disease 921
Associated with 14 genes AGK, BFSP1, BFSP2, CASP7, CRYAA, CRYBA4, CRYGC, CRYGD, 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

948 entries on 10 pages. Showing entries 1 - 100.
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Genes screened
Variants in genes
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Owner     
00004214 FamPatI1;CC00116 PubMed: Hansen 2014, Journal: Hansen 2014, PubMed: Kessel 2021 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, PubMed: Kessel 2021 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 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 CRYAA CRYAA 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 CRYAA CRYAA 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 CRYAA CRYAA 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 CRYAA CRYAA 1 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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