Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal anterior eye segment morphology (HP:0004328)

Parent Node:
Abnormal lens morphology (HP:0000517)

..Starting node
..Ectopia lentis (HP:0001083)

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:

........

Lens subluxation (HP:0001132)

................... HP:0008019 Superior lens subluxation
................... HP:0008494 Inferior lens subluxation

........

Lens luxation (HP:0012019)

Sister Nodes:

Abnormality of lens shape (HP:0011526)

Aplasia/Hypoplasia of the lens (HP:0008063)

Cataract (HP:0000518)

Phakodonesis (HP:0012629)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001083	HP:0001083	Ectopia lentis	0	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.	15
HP:0001083	HP:0001083	Ectopia lentis	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040282 - Frequent	63
HP:0001083	HP:0001083	Ectopia lentis	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0001083	HP:0001083	Ectopia lentis	0	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4	.	214
HP:0001083	HP:0001083	Ectopia lentis	0	ADAMTSL4 CL E G H	54507	19706	OMIM:225100	Ectopia lentis	.	84
HP:0001083	HP:0001083	Ectopia lentis	0	ADAMTSL4 CL E G H	54507	19706	OMIM:225200	Ectopia lentis et pupillae	.	84
HP:0001083	HP:0001083	Ectopia lentis	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040281 - Very frequent	84
HP:0001083	HP:0001083	Ectopia lentis	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	.	4
HP:0001083	HP:0001083	Ectopia lentis	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0001083	HP:0001083	Ectopia lentis	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma		184
HP:0001083	HP:0001083	Ectopia lentis	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional	101
HP:0001083	HP:0001083	Ectopia lentis	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0001083	HP:0001083	Ectopia lentis	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040281 - Very frequent	242
HP:0001083	HP:0001083	Ectopia lentis	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0001083	HP:0001083	Ectopia lentis	0	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA		9
HP:0001083	HP:0001083	Ectopia lentis	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0001083	HP:0001083	Ectopia lentis	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent	215
HP:0001083	HP:0001083	Ectopia lentis	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0001083	HP:0001083	Ectopia lentis	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0001083	HP:0001083	Ectopia lentis	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0001083	HP:0001083	Ectopia lentis	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia		284
HP:0001083	HP:0001083	Ectopia lentis	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.	660
HP:0001083	HP:0001083	Ectopia lentis	0	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8		5
HP:0001083	HP:0001083	Ectopia lentis	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma		1
HP:0001083	HP:0001083	Ectopia lentis	0	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2		4
HP:0001083	HP:0001083	Ectopia lentis	0	FBN1 CL E G H	2200	3603	OMIM:129600	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1		1361
HP:0001083	HP:0001083	Ectopia lentis	0	FBN1 CL E G H	2200	3603	ORPHA:2084	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome	HP:0040281 - Very frequent	1361
HP:0001083	HP:0001083	Ectopia lentis	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040281 - Very frequent	1361
HP:0001083	HP:0001083	Ectopia lentis	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001083	HP:0001083	Ectopia lentis	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0001083	HP:0001083	Ectopia lentis	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0001083	HP:0001083	Ectopia lentis	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040282 - Frequent	1361
HP:0001083	HP:0001083	Ectopia lentis	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0001083	HP:0001083	Ectopia lentis	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040283 - Occasional	655
HP:0001083	HP:0001083	Ectopia lentis	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0001083	HP:0001083	Ectopia lentis	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma		16
HP:0001083	HP:0001083	Ectopia lentis	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma		7
HP:0001083	HP:0001083	Ectopia lentis	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0001083	HP:0001083	Ectopia lentis	0	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome		3
HP:0001083	HP:0001083	Ectopia lentis	0	LTBP2 CL E G H	4053	6715	OMIM:613086	Glaucoma 3, primary congenital, D		123
HP:0001083	HP:0001083	Ectopia lentis	0	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	.	123
HP:0001083	HP:0001083	Ectopia lentis	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040282 - Frequent	123
HP:0001083	HP:0001083	Ectopia lentis	0	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3	.	123
HP:0001083	HP:0001083	Ectopia lentis	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0001083	HP:0001083	Ectopia lentis	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0001083	HP:0001083	Ectopia lentis	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0001083	HP:0001083	Ectopia lentis	0	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration		5
HP:0001083	HP:0001083	Ectopia lentis	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0001083	HP:0001083	Ectopia lentis	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0001083	HP:0001083	Ectopia lentis	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0001083	HP:0001083	Ectopia lentis	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome		11
HP:0001083	HP:0001083	Ectopia lentis	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0001083	HP:0001083	Ectopia lentis	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0001083	HP:0001083	Ectopia lentis	0	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE		1
HP:0001083	HP:0001083	Ectopia lentis	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma		19
HP:0001083	HP:0001083	Ectopia lentis	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA	.	40
HP:0001083	HP:0001083	Ectopia lentis	0	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.	5
HP:0001083	HP:0001083	Ectopia lentis	0	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.	17
HP:0001083	HP:0001083	Ectopia lentis	0	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.	3
HP:0001083	HP:0001083	Ectopia lentis	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0001083	HP:0001132	Lens subluxation	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma		184
HP:0001083	HP:0012019	Lens luxation	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0001083	HP:0001132	Lens subluxation	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0001083	HP:0001132	Lens subluxation	1	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA	.	9
HP:0001083	HP:0012019	Lens luxation	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0001083	HP:0001132	Lens subluxation	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0001083	HP:0001132	Lens subluxation	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040283 - Occasional	284
HP:0001083	HP:0012019	Lens luxation	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional	284
HP:0001083	HP:0001132	Lens subluxation	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma		1
HP:0001083	HP:0001132	Lens subluxation	1	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2		4
HP:0001083	HP:0012019	Lens luxation	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0001083	HP:0001132	Lens subluxation	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma		16
HP:0001083	HP:0001132	Lens subluxation	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma		7
HP:0001083	HP:0001132	Lens subluxation	1	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome	.	3
HP:0001083	HP:0012019	Lens luxation	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0001083	HP:0012019	Lens luxation	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0001083	HP:0001132	Lens subluxation	1	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration	HP:0040283 - Occasional	5
HP:0001083	HP:0012019	Lens luxation	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	HP:0040283 - Occasional	39
HP:0001083	HP:0001132	Lens subluxation	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional	11
HP:0001083	HP:0001132	Lens subluxation	1	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE		1
HP:0001083	HP:0001132	Lens subluxation	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma		19
HP:0001083	HP:0008019	Superior lens subluxation	2	CL E G H
HP:0001083	HP:0008494	Inferior lens subluxation	2	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	184
HP:0001083	HP:0008494	Inferior lens subluxation	2	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	1
HP:0001083	HP:0008494	Inferior lens subluxation	2	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	16
HP:0001083	HP:0008494	Inferior lens subluxation	2	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	7
HP:0001083	HP:0008494	Inferior lens subluxation	2	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	19

Genes (41) :AASS ADAMTS10 ADAMTS17 ADAMTSL4 ASPH B3GALT6 BAP1 BCOR C12ORF57 CBS CHRDL1 COL11A1 COL18A1 COL2A1 COL5A1 CPAMD8 CYSLTR2 ELP4 FBN1 FBN2 GNA11 GNAQ HSPG2 LOXL1 LTBP2 MOCS1 MOCS2 NDP P3H2 PAK2 PAX2 PAX6 PCYT1A PORCN SALL2 SF3B1 SUOX TAP1 TAP2 TAPBP WT1

Diseases (49) :OMIM:238700 ORPHA:3449 OMIM:277600 OMIM:613195 OMIM:225100 OMIM:225200 ORPHA:1885 OMIM:601552 OMIM:271640 ORPHA:39044 ORPHA:2712 OMIM:218340 ORPHA:394 OMIM:236200 OMIM:309300 OMIM:154780 ORPHA:560 ORPHA:1571 OMIM:267750 ORPHA:93296 ORPHA:485 OMIM:130000 OMIM:617319 OMIM:617141 OMIM:129600 ORPHA:2084 OMIM:616914 OMIM:154700 ORPHA:284979 OMIM:608328 ORPHA:115 OMIM:121050 ORPHA:800 OMIM:177650 OMIM:613086 OMIM:251750 OMIM:614819 OMIM:252150 OMIM:252160 ORPHA:649 OMIM:614292 OMIM:120330 OMIM:106210 ORPHA:85167 OMIM:305600 ORPHA:2092 OMIM:216820 OMIM:272300 OMIM:604571

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

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