Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
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Abnormality of the lens (HP:0000517)help
..Starting node
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Ectopia lentis (HP:0001083)help
Term ID: 1083
Name: Ectopia lentis
Synonym: Abnormality of lens position; Lens dislocation
Definition: Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
Comments:
Reference: HP:0001083
Genes and Diseases:
 
       Child Nodes:
........expandLens subluxation (HP:0001132) help
................... HP:0008019 Superior lens subluxation
................... HP:0008494 Inferior lens subluxation
........expandLens luxation (HP:0012019) help

 Sister Nodes: 
..expandAbnormality of lens shape (HP:0011526) help
..expandAplasia/Hypoplasia of the lens (HP:0008063) help
..expandCataract (HP:0000518) help
..expandPhakodonesis (HP:0012629) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001083HP:0001083Ectopia lentis0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM1146617366605113
HP:0001083HP:0001083Ectopia lentis0ADAMTS10 CL E G H817943449Mehes syndromeORPHA11516513201608990
HP:0001083HP:0001083Ectopia lentis0ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM1848217109607511
HP:0001083HP:0001083Ectopia lentis0ADAMTSL4 CL E G H545071885Distal myopathyC0751336ORPHA12718019706610113
HP:0001083HP:0001083Ectopia lentis0ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM12718019706610113
HP:0001083HP:0001083Ectopia lentis0ADAMTSL4 CL E G H54507225100Ectopia lentis, isolated autosomal recessive225100C2673634OMIM12718019706610113
HP:0001083HP:0001083Ectopia lentis0ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1449757600582
HP:0001083HP:0001083Ectopia lentis0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM14023217978615291
HP:0001083HP:0001083Ectopia lentis0CBS CL E G H875394ORPHA12146111550613381
HP:0001083HP:0001083Ectopia lentis0COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0001083HP:0001083Ectopia lentis0COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM115916302209120215
HP:0001083HP:0001083Ectopia lentis0CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM165823228608841
HP:0001083HP:0001083Ectopia lentis0FBN1 CL E G H22002084ORPHA1272142843603134797
HP:0001083HP:0001083Ectopia lentis0FBN1 CL E G H2200284979ORPHA1272142843603134797
HP:0001083HP:0001083Ectopia lentis0FBN1 CL E G H22001885Distal myopathyC0751336ORPHA1272142843603134797
HP:0001083HP:0001083Ectopia lentis0FBN1 CL E G H2200129600Ectopia lentis, isolated, autosomal dominant129600C1851286OMIM1272142843603134797
HP:0001083HP:0001083Ectopia lentis0FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM1272142843603134797
HP:0001083HP:0001083Ectopia lentis0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0001083HP:0001083Ectopia lentis0FBN1 CL E G H22003449Mehes syndromeORPHA1272142843603134797
HP:0001083HP:0001083Ectopia lentis0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0001083HP:0001083Ectopia lentis0FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM111314023604612570
HP:0001083HP:0001083Ectopia lentis0FOXE3 CL E G H230188632ORPHA131863808601094
HP:0001083HP:0001083Ectopia lentis0LTBP2 CL E G H40533449Mehes syndromeORPHA1292996715602091
HP:0001083HP:0001083Ectopia lentis0LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM1292996715602091
HP:0001083HP:0001083Ectopia lentis0LTBP2 CL E G H4053614819Weill-Marchesani syndrome 3614819C3553785OMIM1292996715602091
HP:0001083HP:0001083Ectopia lentis0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0001083HP:0001083Ectopia lentis0PITX3 CL E G H530988632ORPHA115299006602669
HP:0001083HP:0001083Ectopia lentis0PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0001083HP:0001083Ectopia lentis0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0001083HP:0001083Ectopia lentis0SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM12910111460606887
HP:0001083HP:0001083Ectopia lentis0TAP1 CL E G H6890604571Bare lymphocyte syndrome type 1604571C1858266OMIM1912643170260
HP:0001083HP:0001083Ectopia lentis0TAP2 CL E G H6891604571Bare lymphocyte syndrome type 1604571C1858266OMIM11413944170261
HP:0001083HP:0001083Ectopia lentis0TAPBP CL E G H6892604571Bare lymphocyte syndrome type 1604571C1858266OMIM138711566601962
HP:0001083HP:0001083Ectopia lentis1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM1146617366605113
HP:0001083HP:0001083Ectopia lentis1ADAMTS10 CL E G H817943449Mehes syndromeORPHA11516513201608990
HP:0001083HP:0001083Ectopia lentis1ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM1848217109607511
HP:0001083HP:0001083Ectopia lentis1ADAMTSL4 CL E G H545071885Distal myopathyC0751336ORPHA12718019706610113
HP:0001083HP:0001083Ectopia lentis1ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM12718019706610113
HP:0001083HP:0001083Ectopia lentis1ADAMTSL4 CL E G H54507225100Ectopia lentis, isolated autosomal recessive225100C2673634OMIM12718019706610113
HP:0001083HP:0001083Ectopia lentis1ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1449757600582
HP:0001083HP:0001083Ectopia lentis1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM14023217978615291
HP:0001083HP:0001083Ectopia lentis1CBS CL E G H875394ORPHA12146111550613381
HP:0001083HP:0001083Ectopia lentis1COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0001083HP:0001083Ectopia lentis1COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM115916302209120215
HP:0001083HP:0001083Ectopia lentis1CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM165823228608841
HP:0001083HP:0001083Ectopia lentis1FBN1 CL E G H22002084ORPHA1272142843603134797
HP:0001083HP:0001083Ectopia lentis1FBN1 CL E G H2200284979ORPHA1272142843603134797
HP:0001083HP:0001083Ectopia lentis1FBN1 CL E G H22001885Distal myopathyC0751336ORPHA1272142843603134797
HP:0001083HP:0001083Ectopia lentis1FBN1 CL E G H2200129600Ectopia lentis, isolated, autosomal dominant129600C1851286OMIM1272142843603134797
HP:0001083HP:0001083Ectopia lentis1FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM1272142843603134797
HP:0001083HP:0001083Ectopia lentis1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0001083HP:0001083Ectopia lentis1FBN1 CL E G H22003449Mehes syndromeORPHA1272142843603134797
HP:0001083HP:0001083Ectopia lentis1FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0001083HP:0001083Ectopia lentis1FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM111314023604612570
HP:0001083HP:0001083Ectopia lentis1FOXE3 CL E G H230188632ORPHA131863808601094
HP:0001083HP:0001083Ectopia lentis1LTBP2 CL E G H40533449Mehes syndromeORPHA1292996715602091
HP:0001083HP:0001083Ectopia lentis1LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM1292996715602091
HP:0001083HP:0001083Ectopia lentis1LTBP2 CL E G H4053614819Weill-Marchesani syndrome 3614819C3553785OMIM1292996715602091
HP:0001083HP:0001083Ectopia lentis1MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0001083HP:0001083Ectopia lentis1PITX3 CL E G H530988632ORPHA115299006602669
HP:0001083HP:0001083Ectopia lentis1PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0001083HP:0001083Ectopia lentis1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0001083HP:0001083Ectopia lentis1SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM12910111460606887
HP:0001083HP:0001083Ectopia lentis1TAP1 CL E G H6890604571Bare lymphocyte syndrome type 1604571C1858266OMIM1912643170260
HP:0001083HP:0001083Ectopia lentis1TAP2 CL E G H6891604571Bare lymphocyte syndrome type 1604571C1858266OMIM11413944170261
HP:0001083HP:0001083Ectopia lentis1TAPBP CL E G H6892604571Bare lymphocyte syndrome type 1604571C1858266OMIM138711566601962
HP:0001083HP:0001083Ectopia lentis2AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM1146617366605113
HP:0001083HP:0001083Ectopia lentis2ADAMTS10 CL E G H817943449Mehes syndromeORPHA11516513201608990
HP:0001083HP:0001083Ectopia lentis2ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM1848217109607511
HP:0001083HP:0001083Ectopia lentis2ADAMTSL4 CL E G H545071885Distal myopathyC0751336ORPHA12718019706610113
HP:0001083HP:0001083Ectopia lentis2ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM12718019706610113
HP:0001083HP:0001083Ectopia lentis2ADAMTSL4 CL E G H54507225100Ectopia lentis, isolated autosomal recessive225100C2673634OMIM12718019706610113
HP:0001083HP:0001083Ectopia lentis2ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1449757600582
HP:0001083HP:0001083Ectopia lentis2B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM14023217978615291
HP:0001083HP:0001083Ectopia lentis2CBS CL E G H875394ORPHA12146111550613381
HP:0001083HP:0001083Ectopia lentis2COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0001083HP:0001083Ectopia lentis2COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM115916302209120215
HP:0001083HP:0001083Ectopia lentis2CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM165823228608841
HP:0001083HP:0001083Ectopia lentis2FBN1 CL E G H2200284979ORPHA1272142843603134797
HP:0001083HP:0001083Ectopia lentis2FBN1 CL E G H22002084ORPHA1272142843603134797
HP:0001083HP:0001083Ectopia lentis2FBN1 CL E G H22001885Distal myopathyC0751336ORPHA1272142843603134797
HP:0001083HP:0001083Ectopia lentis2FBN1 CL E G H2200129600Ectopia lentis, isolated, autosomal dominant129600C1851286OMIM1272142843603134797
HP:0001083HP:0001083Ectopia lentis2FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM1272142843603134797
HP:0001083HP:0001083Ectopia lentis2FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0001083HP:0001083Ectopia lentis2FBN1 CL E G H22003449Mehes syndromeORPHA1272142843603134797
HP:0001083HP:0001083Ectopia lentis2FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0001083HP:0001083Ectopia lentis2FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM111314023604612570
HP:0001083HP:0001083Ectopia lentis2FOXE3 CL E G H230188632ORPHA131863808601094
HP:0001083HP:0001083Ectopia lentis2LTBP2 CL E G H40533449Mehes syndromeORPHA1292996715602091
HP:0001083HP:0001083Ectopia lentis2LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM1292996715602091
HP:0001083HP:0001083Ectopia lentis2LTBP2 CL E G H4053614819Weill-Marchesani syndrome 3614819C3553785OMIM1292996715602091
HP:0001083HP:0001083Ectopia lentis2MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0001083HP:0001083Ectopia lentis2PITX3 CL E G H530988632ORPHA115299006602669
HP:0001083HP:0001083Ectopia lentis2PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0001083HP:0001083Ectopia lentis2PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0001083HP:0001083Ectopia lentis2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM12910111460606887
HP:0001083HP:0001083Ectopia lentis2TAP1 CL E G H6890604571Bare lymphocyte syndrome type 1604571C1858266OMIM1912643170260
HP:0001083HP:0001083Ectopia lentis2TAP2 CL E G H6891604571Bare lymphocyte syndrome type 1604571C1858266OMIM11413944170261
HP:0001083HP:0001083Ectopia lentis2TAPBP CL E G H6892604571Bare lymphocyte syndrome type 1604571C1858266OMIM138711566601962
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001083HP:0001083Ectopia lentis0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM01516513201608990
HP:0001083HP:0001083Ectopia lentis0B3GALT6 CL E G H12679293359ORPHA04023217978615291
HP:0001083HP:0001083Ectopia lentis0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA05541520893300485
HP:0001083HP:0001083Ectopia lentis0COL18A1 CL E G H807811571ORPHA0364472195120328
HP:0001083HP:0001083Ectopia lentis0COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0001083HP:0001083Ectopia lentis0COL2A1 CL E G H1280485ORPHA05707312200120140
HP:0001083HP:0001083Ectopia lentis0COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0001083HP:0001083Ectopia lentis0COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0001083HP:0001083Ectopia lentis0FBN2 CL E G H2201115ORPHA011314023604612570
HP:0001083HP:0001083Ectopia lentis0HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0001083HP:0001083Ectopia lentis0LTBP2 CL E G H4053613086Glaucoma 3, primary congenital, d613086C2751316OMIM0292996715602091
HP:0001083HP:0001083Ectopia lentis0NDP CL E G H4693649ORPHA01672077678300658
HP:0001083HP:0001083Ectopia lentis1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM01516513201608990
HP:0001083HP:0001083Ectopia lentis1B3GALT6 CL E G H12679293359ORPHA04023217978615291
HP:0001083HP:0001083Ectopia lentis1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA05541520893300485
HP:0001083HP:0001083Ectopia lentis1COL18A1 CL E G H807811571ORPHA0364472195120328
HP:0001083HP:0001083Ectopia lentis1COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0001083HP:0001083Ectopia lentis1COL2A1 CL E G H1280485ORPHA05707312200120140
HP:0001083HP:0001083Ectopia lentis1COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0001083HP:0001083Ectopia lentis1COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0001083HP:0001083Ectopia lentis1FBN2 CL E G H2201115ORPHA011314023604612570
HP:0001083HP:0001083Ectopia lentis1HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0001083HP:0001083Ectopia lentis1LTBP2 CL E G H4053613086Glaucoma 3, primary congenital, d613086C2751316OMIM0292996715602091
HP:0001083HP:0001083Ectopia lentis1NDP CL E G H4693649ORPHA01672077678300658
HP:0001083HP:0001083Ectopia lentis2ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM01516513201608990
HP:0001083HP:0001083Ectopia lentis2B3GALT6 CL E G H12679293359ORPHA04023217978615291
HP:0001083HP:0001083Ectopia lentis2BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA05541520893300485
HP:0001083HP:0001083Ectopia lentis2COL18A1 CL E G H807811571ORPHA0364472195120328
HP:0001083HP:0001083Ectopia lentis2COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0001083HP:0001083Ectopia lentis2COL2A1 CL E G H1280485ORPHA05707312200120140
HP:0001083HP:0001083Ectopia lentis2COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0001083HP:0001083Ectopia lentis2COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0001083HP:0001083Ectopia lentis2FBN2 CL E G H2201115ORPHA011314023604612570
HP:0001083HP:0001083Ectopia lentis2HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0001083HP:0001083Ectopia lentis2LTBP2 CL E G H4053613086Glaucoma 3, primary congenital, d613086C2751316OMIM0292996715602091
HP:0001083HP:0001083Ectopia lentis2NDP CL E G H4693649ORPHA01672077678300658


Genes (39) :AASS ADAMTS10 ADAMTS17 ADAMTSL4 ASPH B3GALT6 BAP1 BCOR C12ORF57 CBS CHRDL1 COL11A1 COL18A1 COL1A1 COL2A1 COL5A1 COL5A2 CPAMD8 CYSLTR2 FBN1 FBN2 FOXE3 GNA11 GNAQ HSPG2 LTBP2 MOCS1 MOCS2 NDP P3H2 PAX2 PITX3 PORCN SALL2 SF3B1 SUOX TAP1 TAP2 TAPBP

Diseases (46) :238700 3449 277600 613195 1885 225200 225100 601552 93359 271640 2712 394 560 1571 287 485 130000 617319 284979 2084 129600 616914 154700 608328 115 121050 88632 800 613086 251750 614819 252160 649 2092 305600 272300 604571 218340 236200 309300 154780 252150 614292 120330 216820 39044
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.