Gene |
Chromosome |
Location |
Syndrome |
ABHD12 | 20 | p11.21 | Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC) | |
ABHD5 | 3 | p21.33 | Chanarin-Dorfman syndrome type 2 | |
ADAMTSL4 | 1 | q21.2 | Ectopia lentis | |
ALDH18A1 | 10 | q24.1 | Cutis laxa autosomal recessive 3A (ARCL3A) | |
BCOR | 23 | p11.4 | Oculofaciocardiodental (OFCD) syndrome | |
BEST1 | 11 | q12.3 | Autosomal dominant vitreoretinochoroidopathy (ADVIRC) | |
BFSP1 | 20 | p12.1 | Cataract 33 multiple types (CTRCT33) | |
BFSP2 | 3 | q22.1 | Juvenile-onset progressive cataracts | |
CHMP4B | 20 | q11.22 | Cataract 31 multiple types (CTRCT31) | |
CLPB | 11 | q13.4 | CLPB deficiency | |
CRYAA | 21 | q22.3 | Cataract 09 multiple types (CTRCT9) | |
CRYBA1 | 17 | q11.2 | Cataract 10 multiple types (CTRCT10) | |
CRYBB2 | 22 | q11.23 | Cataract 03 multiple types (CTRCT3) | |
CRYBB3 | 22 | q11.23 | Cataract 22 multiple types (CTRCT22) | |
CRYGB | 2 | q33.3 | Cataract 39 multiple types (CTRCT39) | |
CRYGC | 2 | q33.3 | Cataract 02 multiple types (CTRCT2) | |
CRYGD | 2 | q33.3 | Cataract 04 multiple types (CTRCT4) | |
CRYGS | 3 | q27.3 | Cataract 20 multiple types (CTRCT20) | |
CTDP1 | 18 | q23 | Congenital cataracts facial dysmorphism and neuropathy | |
EPHA2 | 1 | P36.13 | Cataract 06 multiple types (CTRCT6) | |
EYA1 | 8 | q13.3 | Lens clouding / cornea clouding | |
FAM126A | 7 | p15.3 | Hypomyelination and congenital cataract | |
FBN1 | 15 | q21.1 | Marfan syndroe | |
FTL | 19 | q13.33 | Hyperferritinemia-cataract syndrome | |
FYCO1 | 3 | p21.31 | Cataract 18 multiple types(CTRCT18) | |
GJA3 | 13 | q12.11 | Zonular pulverulent cataract type 3 (CZP3) | |
GJA8 | 1 | q21.1 | Cataract 01 multiple types (CTRCT1) | |
JAM3 | 11 | q25 | Hemorrhagic destruction of the brain with cataracts (HDBSCC) | |
LEMD2 | 6 | p21.31 | Cataract 46 juvenile-onset (CTRCT46) | |
LIM2 | 19 | q13.41 | Cataract 19 multiple types (CTRCT19) | |
MAF | 16 | q23.2 | Cataract 21 multiple types (CTRCT21) | |
MAN2B1 | 19 | p13.13 | Alpha-mannosidosis type 2 | |
MBNL1 | 3 | q25.1 | Corneal dystrophy Fuchs endothelial 3 (FECD3) | |
MBNL1 | 3 | q25.1 | Dystrophia myotonica 1 (DM1) | |
MIR184 | 15 | q25.1 | Familial keratoconus with cataract (EDICT) | |
MYH9 | 22 | q12.3 | MYH9-related disorder | |
NDP | 23 | p11.3 | Familial exudative vitreoretinopathy | |
NHS | 23 | p22.2 | Cataract 40 (CTRCT40) | |
OAT | 10 | q26.13 | Gyrate atrophy | |
OPA3-both | 19 | q13.32 | Costeff syndrome | |
OPA3-one | 19 | q13.32 | Autosomal dominant optic atrophy and cataract (ADOAC) | |
P3H2 | 3 | q28 | Severe myopia with cataract and vitreoretinal degeneration (MCVD) | |
PITX3 | 10 | q24.32 | Cataract 11 multiple types (CTRCT11) | |
PITX3 | 10 | q24.32 | Anterior segment dysgenesis 1 (ASGD1) | |
RECQL4 | 8 | q24.3 | Rothmund-Thomson syndrome | |
SIL1 | 5 | q31.2 | Marinesco-Sjögren syndrome type 1 | |
SIPA1L3 | 19 | q13.13 | Cataract 45 (CTRCT45) | |
TDRD7 | 9 | q22.33 | Cataract 36 (CTRCT36) | |
TMEM114 | 16 | p13.2 | Congenital and juvenile cataracts | |
UNC45B | 17 | q12 | Cataract 43 (CTRCT43) | |
VCAN | 5 | q14.2 | Wagner syndrome | |
VIM | 10 | p13 | Cataract 30 multiple types (CTRCT30) | |
WRN | 8 | p12 | Werner syndrome | |