Human Phenotype Ontology 
Grandparent Node:
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Cataract (HP:0000518)help
Parent Node:
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Subcapsular cataract (HP:0000523)help
..Starting node
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Posterior subcapsular cataract (HP:0007787)help
Term ID: 7787
Name: Posterior subcapsular cataract
Synonym: Posterior subcapsular cataracts; Posterior subcapsular opacities of the lens
Definition: A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
Comments:
Reference: HP:0007787
Genes and Diseases:
 
       Child Nodes:
........expandIridescent posterior subcapsular cataract (HP:0007889) help
........expandJuvenile posterior subcapsular lenticular opacities (HP:0007935) help

 Sister Nodes: 
..expandAnterior subcapsular cataract (HP:0010923) 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:0007787HP:0007787Posterior subcapsular cataract0ADAMTS18 CL E G H17069217110OMIM:615458Microcornea, myopic chorioretinal atrophy, and telecanthusHP:0040283 - Occasional8
HP:0007787HP:0007787Posterior subcapsular cataract0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0007787HP:0007787Posterior subcapsular cataract0ARL2BP CL E G H2356817146OMIM:615434Retinitis pigmentosa with or without situs inversusHP:0040283 - Occasional3
HP:0007787HP:0007787Posterior subcapsular cataract0ARL3 CL E G H403694OMIM:618173RETINITIS PIGMENTOSA 83; RP831
HP:0007787HP:0007787Posterior subcapsular cataract0CHMP4B CL E G H12886616171OMIM:605387Cataract 31, multiple types4
HP:0007787HP:0007787Posterior subcapsular cataract0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0007787HP:0007787Posterior subcapsular cataract0EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25HP:0040284 - Very rare209
HP:0007787HP:0007787Posterior subcapsular cataract0GJA8 CL E G H27034281OMIM:116200Cataract 1, multiple types.34
HP:0007787HP:0007787Posterior subcapsular cataract0IDH3B CL E G H34205385OMIM:612572RETINITIS PIGMENTOSA 46; RP4630
HP:0007787HP:0007787Posterior subcapsular cataract0IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 10HP:0040284 - Very rare52
HP:0007787HP:0007787Posterior subcapsular cataract0IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0007787HP:0007787Posterior subcapsular cataract0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0007787HP:0007787Posterior subcapsular cataract0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0007787HP:0007787Posterior subcapsular cataract0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040282 - Frequent220
HP:0007787HP:0007787Posterior subcapsular cataract0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0007787HP:0007787Posterior subcapsular cataract0OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency.94
HP:0007787HP:0007787Posterior subcapsular cataract0OFD1 CL E G H84812567OMIM:300424Retinitis pigmentosa 23HP:0040283 - Occasional201
HP:0007787HP:0007787Posterior subcapsular cataract0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0007787HP:0007787Posterior subcapsular cataract0PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0007787HP:0007787Posterior subcapsular cataract0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0007787HP:0007787Posterior subcapsular cataract0RBP3 CL E G H59499921OMIM:615233Retinitis pigmentosa 66.108
HP:0007787HP:0007787Posterior subcapsular cataract0REEP6 CL E G H9284030078OMIM:617304Retinitis pigmentosa 77.5
HP:0007787HP:0007787Posterior subcapsular cataract0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0007787HP:0007787Posterior subcapsular cataract0SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0007787HP:0007787Posterior subcapsular cataract0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0007787HP:0007787Posterior subcapsular cataract0SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome.3
HP:0007787HP:0007787Posterior subcapsular cataract0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0007787HP:0007787Posterior subcapsular cataract0TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0007787HP:0007787Posterior subcapsular cataract0UNC45B CL E G H14686214304OMIM:616279Cataract 431
HP:0007787HP:0007787Posterior subcapsular cataract0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome5
HP:0007787HP:0007787Posterior subcapsular cataract0ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 72.14
HP:0007787HP:0007889Iridescent posterior subcapsular cataract1CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 2.1
HP:0007787HP:0007935Juvenile posterior subcapsular lenticular opacities1NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220


Genes (30) :ADAMTS18 ALMS1 ARL2BP ARL3 CHMP4B CNBP EYS GJA8 IDH3B IMPDH1 IMPG2 LCA5 LRAT NF2 OAT OFD1 OPA3 PDE6A POLR3GL RBP3 REEP6 RPE65 SCAPER SPATA7 SPRTN TONSL TULP1 UNC45B XYLT2 ZNF408

Diseases (28) :OMIM:615458 ORPHA:64 OMIM:615434 OMIM:618173 OMIM:605387 OMIM:602668 OMIM:602772 OMIM:116200 OMIM:612572 OMIM:180105 OMIM:613581 ORPHA:364055 ORPHA:637 OMIM:101000 OMIM:258870 OMIM:300424 ORPHA:67036 OMIM:613810 OMIM:619234 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.