Human Phenotype Ontology 
Grandparent Node:
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Abnormal lens morphology (HP:0000517)help
Parent Node:
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Cataract (HP:0000518)help
..Starting node
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Subcapsular cataract (HP:0000523)help
Term ID: 523
Name: Subcapsular cataract
Synonym: Subcapsular cataracts; Subcapsular lenticular cataracts; Subcapsular opacities
Definition: A cataract that affects the region of the lens directly beneath the capsule of the lens.
Comments:
Reference: HP:0000523
Genes and Diseases:
 
       Child Nodes:
........expandPosterior subcapsular cataract (HP:0007787) help
................... HP:0007889 Iridescent posterior subcapsular cataract
................... HP:0007935 Juvenile posterior subcapsular lenticular opacities
........expandAnterior subcapsular cataract (HP:0010923) help

 Sister Nodes: 
..expandAge-related cataract (HP:0011141) help
..expandCapsular cataract (HP:0100017) help
..expandChristmas tree cataract (HP:0025571) help
..expandDevelopmental cataract (HP:0000519) help
..expandJuvenile cataract (HP:0001118) help
..expandMembranous cataract (HP:0010922) help
..expandobsolete Total cataract (HP:0010700) help
..expandPolar cataract (HP:0010696) help
..expandPresenile cataracts (HP:0007819) help
..expandProgressive cataract (HP:0007834) help
..expandZonular cataract (HP:0010920) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000523HP:0000523Subcapsular cataract0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0000523HP:0000523Subcapsular cataract0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0000523HP:0000523Subcapsular cataract0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0000523HP:0000523Subcapsular cataract0ADAMTS18 CL E G H17069217110OMIM:615458Microcornea, myopic chorioretinal atrophy, and telecanthus8
HP:0000523HP:0000523Subcapsular cataract0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0000523HP:0000523Subcapsular cataract0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000523HP:0000523Subcapsular cataract0ARL2BP CL E G H2356817146OMIM:615434Retinitis pigmentosa with or without situs inversus3
HP:0000523HP:0000523Subcapsular cataract0ARL3 CL E G H403694OMIM:618173RETINITIS PIGMENTOSA 83; RP831
HP:0000523HP:0000523Subcapsular cataract0CHMP4B CL E G H12886616171OMIM:605387Cataract 31, multiple types4
HP:0000523HP:0000523Subcapsular cataract0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0000523HP:0000523Subcapsular cataract0CYP1B1 CL E G H15452597ORPHA:708Peters anomalyHP:0040281 - Very frequent101
HP:0000523HP:0000523Subcapsular cataract0EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0000523HP:0000523Subcapsular cataract0FOXC1 CL E G H22963800ORPHA:708Peters anomalyHP:0040281 - Very frequent63
HP:0000523HP:0000523Subcapsular cataract0FOXE3 CL E G H23013808ORPHA:708Peters anomalyHP:0040281 - Very frequent23
HP:0000523HP:0000523Subcapsular cataract0FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1.109
HP:0000523HP:0000523Subcapsular cataract0GJA8 CL E G H27034281OMIM:116200Cataract 1, multiple types34
HP:0000523HP:0000523Subcapsular cataract0IDH3B CL E G H34205385OMIM:612572RETINITIS PIGMENTOSA 46; RP4630
HP:0000523HP:0000523Subcapsular cataract0IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 1052
HP:0000523HP:0000523Subcapsular cataract0IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0000523HP:0000523Subcapsular cataract0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0000523HP:0000523Subcapsular cataract0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0000523HP:0000523Subcapsular cataract0LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1.125
HP:0000523HP:0000523Subcapsular cataract0LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4.125
HP:0000523HP:0000523Subcapsular cataract0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0000523HP:0000523Subcapsular cataract0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0000523HP:0000523Subcapsular cataract0OAT CL E G H49428091ORPHA:414Gyrate atrophy of choroid and retinaHP:0040282 - Frequent94
HP:0000523HP:0000523Subcapsular cataract0OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency94
HP:0000523HP:0000523Subcapsular cataract0OFD1 CL E G H84812567OMIM:300424Retinitis pigmentosa 23201
HP:0000523HP:0000523Subcapsular cataract0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0000523HP:0000523Subcapsular cataract0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0000523HP:0000523Subcapsular cataract0PAX6 CL E G H50808620ORPHA:708Peters anomalyHP:0040281 - Very frequent194
HP:0000523HP:0000523Subcapsular cataract0PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0000523HP:0000523Subcapsular cataract0PITX2 CL E G H53089005ORPHA:708Peters anomalyHP:0040281 - Very frequent51
HP:0000523HP:0000523Subcapsular cataract0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000523HP:0000523Subcapsular cataract0PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 1394
HP:0000523HP:0000523Subcapsular cataract0RBP3 CL E G H59499921OMIM:615233Retinitis pigmentosa 66108
HP:0000523HP:0000523Subcapsular cataract0REEP6 CL E G H9284030078OMIM:617304Retinitis pigmentosa 775
HP:0000523HP:0000523Subcapsular cataract0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0000523HP:0000523Subcapsular cataract0SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0000523HP:0000523Subcapsular cataract0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0000523HP:0000523Subcapsular cataract0SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome3
HP:0000523HP:0000523Subcapsular cataract0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0000523HP:0000523Subcapsular cataract0TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0000523HP:0000523Subcapsular cataract0UNC45B CL E G H14686214304OMIM:616279Cataract 43.1
HP:0000523HP:0000523Subcapsular cataract0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0000523HP:0000523Subcapsular cataract0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome5
HP:0000523HP:0000523Subcapsular cataract0ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 7214
HP:0000523HP:0007787Posterior subcapsular cataract1ADAMTS18 CL E G H17069217110OMIM:615458Microcornea, myopic chorioretinal atrophy, and telecanthusHP:0040283 - Occasional8
HP:0000523HP:0007787Posterior subcapsular cataract1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0000523HP:0007787Posterior subcapsular cataract1ARL2BP CL E G H2356817146OMIM:615434Retinitis pigmentosa with or without situs inversusHP:0040283 - Occasional3
HP:0000523HP:0007787Posterior subcapsular cataract1ARL3 CL E G H403694OMIM:618173RETINITIS PIGMENTOSA 83; RP831
HP:0000523HP:0010923Anterior subcapsular cataract1CHMP4B CL E G H12886616171OMIM:605387Cataract 31, multiple types.4
HP:0000523HP:0007787Posterior subcapsular cataract1CHMP4B CL E G H12886616171OMIM:605387Cataract 31, multiple types4
HP:0000523HP:0007787Posterior subcapsular cataract1CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0000523HP:0007787Posterior subcapsular cataract1EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25HP:0040284 - Very rare209
HP:0000523HP:0007787Posterior subcapsular cataract1GJA8 CL E G H27034281OMIM:116200Cataract 1, multiple types.34
HP:0000523HP:0007787Posterior subcapsular cataract1IDH3B CL E G H34205385OMIM:612572RETINITIS PIGMENTOSA 46; RP4630
HP:0000523HP:0007787Posterior subcapsular cataract1IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 10HP:0040284 - Very rare52
HP:0000523HP:0007787Posterior subcapsular cataract1IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0000523HP:0007787Posterior subcapsular cataract1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0000523HP:0007787Posterior subcapsular cataract1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0000523HP:0007787Posterior subcapsular cataract1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040282 - Frequent220
HP:0000523HP:0007787Posterior subcapsular cataract1NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0000523HP:0007787Posterior subcapsular cataract1OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency.94
HP:0000523HP:0007787Posterior subcapsular cataract1OFD1 CL E G H84812567OMIM:300424Retinitis pigmentosa 23HP:0040283 - Occasional201
HP:0000523HP:0010923Anterior subcapsular cataract1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0000523HP:0007787Posterior subcapsular cataract1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0000523HP:0010923Anterior subcapsular cataract1PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0000523HP:0007787Posterior subcapsular cataract1PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0000523HP:0007787Posterior subcapsular cataract1POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000523HP:0007787Posterior subcapsular cataract1RBP3 CL E G H59499921OMIM:615233Retinitis pigmentosa 66.108
HP:0000523HP:0007787Posterior subcapsular cataract1REEP6 CL E G H9284030078OMIM:617304Retinitis pigmentosa 77.5
HP:0000523HP:0007787Posterior subcapsular cataract1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0000523HP:0007787Posterior subcapsular cataract1SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0000523HP:0007787Posterior subcapsular cataract1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0000523HP:0007787Posterior subcapsular cataract1SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome.3
HP:0000523HP:0007787Posterior subcapsular cataract1TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0000523HP:0007787Posterior subcapsular cataract1TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0000523HP:0007787Posterior subcapsular cataract1UNC45B CL E G H14686214304OMIM:616279Cataract 431
HP:0000523HP:0010923Anterior subcapsular cataract1WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0000523HP:0007787Posterior subcapsular cataract1XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome5
HP:0000523HP:0007787Posterior subcapsular cataract1ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 72.14
HP:0000523HP:0007889Iridescent posterior subcapsular cataract2CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 2.1
HP:0000523HP:0007935Juvenile posterior subcapsular lenticular opacities2NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220


Genes (41) :ABHD12 ABHD5 ADAMTS18 ALMS1 ARL2BP ARL3 CHMP4B CNBP CYP1B1 EYS FOXC1 FOXE3 FZD4 GJA8 IDH3B IMPDH1 IMPG2 LCA5 LRAT LRP5 NF2 OAT OFD1 OPA3 PAX6 PDE6A PITX2 POLR3GL PRPF8 RBP3 REEP6 RPE65 SCAPER SPATA7 SPRTN TONSL TULP1 UNC45B WT1 XYLT2 ZNF408

Diseases (38) :OMIM:612674 OMIM:275630 ORPHA:98907 OMIM:615458 ORPHA:64 OMIM:203800 OMIM:615434 OMIM:618173 OMIM:605387 OMIM:602668 ORPHA:708 OMIM:602772 OMIM:133780 OMIM:116200 OMIM:612572 OMIM:180105 OMIM:613581 ORPHA:364055 OMIM:601813 ORPHA:637 OMIM:101000 ORPHA:414 OMIM:258870 OMIM:300424 ORPHA:67036 OMIM:106210 OMIM:613810 OMIM:619234 OMIM:600059 OMIM:615233 OMIM:617304 OMIM:618195 OMIM:616200 OMIM:271510 OMIM:600132 OMIM:616279 OMIM:605822 OMIM:616469
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.