Lens Subluxation disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lens Subluxation

MalaCards integrated aliases for Lens Subluxation:

Name: Lens Subluxation ¹¹ ²⁸ ⁵³ ⁵ ⁴³ ¹⁴ ⁷¹ ⁷⁵

Subluxation of Lens ¹¹

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:11364

ICD9CM ³⁴ 379.32

MeSH ⁴³ D007906

NCIt ⁴⁹ C34772

SNOMED-CT ⁶⁸ 155203002

UMLS ⁷¹ C0023316

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Summaries for Lens Subluxation

MalaCards based summary: Lens Subluxation, also known as subluxation of lens, is related to isolated ectopia lentis and intraocular pressure quantitative trait locus. An important gene associated with Lens Subluxation is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Diseases of glycosylation and O-linked glycosylation of mucins. The drugs Bupivacaine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related phenotypes are Increased shRNA abundance (Z-score > 2) and skeleton

Wikipedia: ⁷⁵ Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location.... more...

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Related Diseases for Lens Subluxation

Diseases related to Lens Subluxation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)

#	Related Disease	Score	Top Affiliating Genes
1	isolated ectopia lentis	30.9	SUOX P3H2 LTBP3 LTBP2 FBN2 FBN1
2	intraocular pressure quantitative trait locus	30.9	PAX6 LTBP2 LOXL1 FBN1
3	retinal detachment	30.8	PAX6 P3H2 FBN1 ADAMTSL4
4	marfan syndrome	30.7	LTBP2 LOXL1 FBN2 FBN1 CBS
5	exfoliation syndrome	30.5	LTBP2 LOXL1 FBN1
6	homocystinuria	30.2	SUOX FBN1 CBS
7	aortic aneurysm, familial thoracic 4	30.2	FBN2 FBN1 CBS
8	amblyopia	30.2	TFAP2A PAX6 BFSP1
9	morgagni cataract	30.1	VPS13B LOXL1 FBN1 CPAMD8 ADAMTSL4
10	loeys-dietz syndrome 1	30.1	FBN2 FBN1
11	cataract	30.0	VSX2 PAX6 P3H2 LOXL1 GALT FBN1
12	megalocornea	29.9	LTBP3 LTBP2 FBN1 ADAMTS17 ADAMTS10
13	refractive error	29.9	VPS13B PAX6 P3H2 FBN1
14	myopia	29.9	VPS13B PAX6 P3H2 LTBP2 FBN1 CBS
15	glaucoma 3, primary congenital, a	29.8	PAX6 LTBP3 LTBP2 CPAMD8 ADAMTS10
16	orthostatic intolerance	29.7	LTBP3 LTBP2 FBN2 FBN1
17	loeys-dietz syndrome	29.6	LTBP3 LTBP2 FBN2 FBN1 ADAMTSL4
18	primary congenital glaucoma	29.6	PAX6 LTBP3 LTBP2 CPAMD8 ADAMTS10
19	glaucoma, primary open angle	29.4	PAX6 LTBP3 LTBP2 LOXL1 FBN1 ADAMTS17
20	aniridia 1	29.3	VSX2 PAX6 LTBP3 LTBP2 CPAMD8 BFSP1
21	weill-marchesani syndrome	29.1	LTBP3 LTBP2 FBN2 FBN1 ADAMTSL4 ADAMTSL2
22	aortic aneurysm, familial thoracic 1	28.9	LTBP3 LTBP2 LOXL1 FBN2 FBN1 CBS
23	late-onset localized junctional epidermolysis bullosa-intellectual disability sy	11.3
24	myopia, high, with cataract and vitreoretinal degeneration	11.1
25	wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	11.1
26	primary angle-closure glaucoma	10.4
27	macular retinal edema	10.3
28	phacolytic glaucoma	10.3	LOXL1 FBN1
29	microphthalmia, syndromic 8	10.3	VSX2 PAX6
30	isolated microphthalmia 3	10.3	VSX2 PAX6
31	fryns microphthalmia syndrome	10.3	VSX2 PAX6
32	achard syndrome	10.3	FBN2 FBN1
33	coloboma of iris	10.2	TFAP2A PAX6
34	congenital aphakia	10.2	VSX2 PAX6
35	aqueous misdirection	10.2	LTBP2 ADAMTSL4
36	leukocoria	10.2	VSX2 PAX6
37	microphthalmia, isolated 2	10.2	VSX2 PAX6
38	corneal edema	10.2
39	weill-marchesani syndrome 1	10.2	LTBP2 FBN1 ADAMTS10
40	tricuspid valve prolapse	10.2	FBN2 FBN1
41	sclerocornea	10.2	VSX2 TFAP2A PAX6
42	ichthyosis, congenital, autosomal recessive 9	10.2	LYSMD4 ADAMTS17
43	colobomatous microphthalmia	10.2	VSX2 TFAP2A PAX6
44	tracheal disease	10.2	FBN1 ADAMTSL2 ADAMTS10
45	postural orthostatic tachycardia syndrome	10.2	FBN2 FBN1
46	macular dystrophy, dominant cystoid	10.2
47	glaucoma, primary closed-angle	10.2
48	dermatitis	10.2
49	anterior segment dysgenesis 1	10.1	PAX6 CPAMD8 ADAMTS17
50	bilateral frontal polymicrogyria	10.1	SUOX ADAMTSL4

Graphical network of the top 20 diseases related to Lens Subluxation:

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Symptoms & Phenotypes for Lens Subluxation

GenomeRNAi Phenotypes related to Lens Subluxation according to GeneCards Suite gene sharing:

²⁵ (show all 31)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-101	10.34	SUOX
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-102	10.34	VPS13B
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	10.34	SUOX
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-112	10.34	TFAP2A
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-125	10.34	SUOX
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-13	10.34	SUOX
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-140	10.34	TFAP2A
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-145	10.34	SUOX
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	10.34	SUOX
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	10.34	TFAP2A
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-155	10.34	VPS13B
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-157	10.34	ADAMTS10
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	10.34	P3H2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	10.34	SUOX TFAP2A
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-17	10.34	ADAMTS10
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-171	10.34	SUOX ADAMTS10 P3H2
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-2	10.34	SUOX P3H2
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-20	10.34	P3H2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-204	10.34	SUOX
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-205	10.34	SUOX
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-209	10.34	SUOX
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-21	10.34	SUOX VPS13B
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	10.34	P3H2
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-30	10.34	TFAP2A
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-32	10.34	ADAMTS10
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	10.34	TFAP2A
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-61	10.34	VPS13B
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-80	10.34	SUOX
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-82	10.34	P3H2
30	no effect	GR00402-S-1	10.14	ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL4 BFSP1 CBS
31	no effect	GR00402-S-2	10.14	ADAMTS10 ADAMTSL2 ADAMTSL4 BFSP1 CBS CPAMD8

MGI Mouse Phenotypes related to Lens Subluxation:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	skeleton	MP:0005390	10	ADAMTS10 ADAMTS17 ADAMTSL2 CBS FBN1 FBN2
2	craniofacial	MP:0005382	9.97	ADAMTS17 CBS FBN1 FBN2 LTBP3 P3H2
3	respiratory system	MP:0005388	9.97	ADAMTSL2 CBS FBN1 FBN2 LOXL1 LTBP2
4	vision/eye	MP:0005391	9.97	ADAMTS10 ADAMTSL4 BFSP1 CBS FBN2 LOXL1
5	muscle	MP:0005369	9.95	ADAMTS10 ADAMTSL2 CBS FBN1 FBN2 PAX6
6	pigmentation	MP:0001186	9.83	ADAMTSL4 FBN1 PAX6 TFAP2A VSX2
7	mortality/aging	MP:0010768	9.8	ADAMTS10 ADAMTS17 ADAMTSL2 CBS FBN1 FBN2
8	integument	MP:0010771	9.32	ADAMTS10 ADAMTS17 ADAMTSL4 CBS FBN1 FBN2

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Drugs & Therapeutics for Lens Subluxation

Drugs for Lens Subluxation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Bupivacaine

Approved, Investigational

Phase 4

2180-92-9, 38396-39-3

2474

2

Lidocaine

Approved, Vet_approved

Phase 4

137-58-6

3676

3

Triazolam

Approved, Investigational

Phase 4

28911-01-5

5556

4

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 4

437-38-7

3345

5

Midazolam

Approved, Illicit

Phase 4

59467-70-8

4192

6

Propofol

Approved, Investigational, Vet_approved

Phase 4

2078-54-8

4943

7

Proxymetacaine

Phase 4

8

Anesthetics

Phase 4

9

Hypnotics and Sedatives

Phase 4

Interventional clinical trials:

(show all 11)

#	Name	Status	NCT ID	Phase	Drugs
1	Comparative Analysis of Oral Sedation Versus Standard Intravenous Sedation in Vitreoretinal Surgery With Topical Anesthesia and Sub-tenon's Block	Unknown status	NCT04346095	Phase 4	Oral Sedatives with or Without Analgesia;Intravenous Sedatives with or Without Analgesia
2	Cionni Ring and In-the-bag IOL Implantation for Subluxated Lenses: A Prospective Case Series	Completed	NCT01346566	Phase 3
3	Study of Subluxation Lens Biometrics and Postoperative Intraocular Lens Stability	Unknown status	NCT04685122
4	Late In-the-bag intraOcular Lens dislocatioN Surgery: A Randomized Clinical Trial (LION Trial)	Unknown status	NCT03276104
5	Study of Multifunctional Cataract-assisted Retractor in Complicated Cataract Surgery	Unknown status	NCT04062084
6	Late Dislocation of Intraocular Lens (IOL) Following Cataract Surgery: an Evaluation of Two Different Surgical Methods	Unknown status	NCT01784926
7	Biometric Indicators of Eyes With Occult Lens Subluxation	Completed	NCT03752710
8	Ultrasound Biomicroscopic Analysis of Cionni Ring and In-the-bag IOL Implantation for Subluxated Lenses	Completed	NCT02790268
9	Efficacy of an Ocular Bandage Contact Lens for the Treatment of Dry Eye After Complicated and Combined Cataract Surgery	Recruiting	NCT04120389
10	Effect of Different Surgical Treatment of Marfan Syndrome With Subluxation Lens	Active, not recruiting	NCT05578469
11	CT Lucia 601 IOL Implantation in the Sulcus	Enrolling by invitation	NCT04796662

Search NIH Clinical Center for Lens Subluxation

Cochrane evidence based reviews: lens subluxation

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Genetic Tests for Lens Subluxation

Genetic tests related to Lens Subluxation:

#	Genetic test	Affiliating Genes
1	Lens Subluxation ²⁸

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Anatomical Context for Lens Subluxation

Organs/tissues related to Lens Subluxation:

MalaCards : Eye, Endothelial, Retina, Bone

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Publications for Lens Subluxation

Articles related to Lens Subluxation:

(show top 50) (show all 402)

#	Title	Authors	PMID	Year
1	Asymmetric pigmentary glaucoma in a patient with Marfan's syndrome. ⁵³ ⁶²	Doyle A...Lachkar Y	15834601	2005
2	Determination of the molecular basis of Marfan syndrome: a growth industry. ⁵³ ⁶²	Byers PH	15254580	2004
3	Traumatic Lens Subluxation From Pickleball Injury: A Case Series. ⁶²	Huang H...Greven MA	35963000	2022
4	Microvascular Retinal Changes in Patients with Marfan Syndrome. ⁶²	Rezar-Dreindl S...Stifter E	35416099	2022
5	Comparison of Accuracy in Keratometries Measured by Different Camera Devices for Predicting the Intraocular Lens Power in Lens-Dislocated Patients. ⁶²	Chen TH...Jiang YX	35785758	2022
6	Outcomes of surgical intervention in cases of ectopia lentis. ⁶²	Maharana PK...Titiyal JS	35791125	2022
7	Lens subluxation in two cases of ocular ischemic syndrome: A late complication? ⁶²	Lopez-Herrero F...Sanchez-Vicente JL	35513925	2022
8	Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the ADAMTS17 gene: A case report. ⁶²	Yu X...Shi Y	35496767	2022
9	Retropupillary iris claw lens versus Gore-Tex assisted scleral fixated intraocular lens in children with large lens subluxations. ⁶²	Rastogi A...Suresh P	35647969	2022
10	Juvenile Xanthogranuloma Presented with Buphthalmos and Corneal Clouding in Neonatal Period: A Case Report. ⁶²	Dericioglu V...Cinel L	36128087	2022
11	Effect of Different Preoperative Intraocular Pressures on the Prognosis of Traumatic Cyclodialysis Cleft Associated with Lens Subluxation. ⁶²	Ning L...Jiang Y	35107814	2022
12	Intraocular Pressure in Eyes with Intraocular Lens Dislocation and Pseudoexfoliation Syndrome. ⁶²	Schuknecht A...Kniestedt C	35472783	2022
13	Early lens aspiration with posterior chamber intraocular lens and capsular tension ring in microspherophakia to avoid lens-induced complications. ⁶²	Al-Rajhi AA...Almazyad EM	36211322	2022
14	Factors Related to Visual Outcomes after Lens Surgery in Isolated Microspherophakia. ⁶²	Zheng J...Jiang Y	35721227	2022
15	How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination-Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus. ⁶²	Wozniak-Mielczarek L...Sabiniewicz R	35055593	2022
16	Femtosecond Laser Combined with Double-Flange Polypropylene Suture Capsular Tension Ring Suspension for the Treatment of Subluxation of Lens in Marfan Syndrome. ⁶²	Zhou L...Guo H	35991146	2022
17	The Imaging Characteristics of Lens Subluxation on the Ultrasound Biomicroscopy. ⁶²	Wang A...Wang H	36051917	2022
18	Two-Year Follow-Up of Clinical Efficacy of Femtosecond Laser, Modified Capsular Tension Ring, and Iris Hook-Assisted Surgical Treatment of Lens Subluxation in Patients with Elevated Intraocular Pressure. ⁶²	Wang C...Jiang J	35586595	2022
19	Biometric and Structural Ocular Manifestations of Anterior Megalophthalmos. ⁶²	Chen TH...Jiang Y	35665341	2022
20	Association between retinitis pigmentosa and an increased risk of primary angle closure glaucoma: A population-based cohort study. ⁶²	Hung MC...Chen YY	36083972	2022
21	Clinical findings associated with blunt ocular trauma in horses: a retrospective analysis. ⁶²	Charnock LN...McMullen RJ	34213057	2022
22	Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome. ⁶²	Li M...Peng Q	36246610	2022
23	[Refractive outcomes of out-of-the-bag intraocular lens implantation]. ⁶²	Yusef YN...Fokina ND	36287150	2022
24	Comparison of intraocular pressures estimated by rebound and applanation tonometry in dogs with lens instability: 66 cases (2012-2018). ⁶²	Schlesener BN...Maggs DJ	34647480	2021
25	Sutureless Scleral-Fixated Intraocular Lens Implantation in the Treatment of Congenital Lens Subluxation Related to Marfan Syndrome. ⁶²	Bulut MN...Simsek S	34228568	2021
26	Primary scleral-fixated posterior chamber intraocular lenses in patients with congenital lens subluxation. ⁶²	Wang A...Lu Y	34844569	2021
27	A novel approach for scleral fixation using Carlevale lens. ⁶²	Fiore T...Cagini C	33517768	2021
28	Accuracy of IOL power calculation formulas in Marfan lens subluxation patients with in-the-bag IOLs and implantation of scleral-sutured single-eyelet modified capsular tension rings. ⁶²	Zhang M...Jiang Y	34675149	2021
29	Pediatric Lens Subluxation Surgery, Aphakic Glaucoma, Hemangioma and Dissociative Visual Loss. ⁶²	Jagle H...Hildebrand GD	34662919	2021
30	Combined transconjunctival sutureless three-port vitrectomy and scleral fixation of intraocular lens. ⁶²	Danese C...Lanzetta P	34613856	2021
31	Comparison of safety and number of post-operative visits of patients in convenient day versus conventional first day follow-up after phacoemulsification. ⁶²	Kamal Z...Huma F	34475927	2021
32	Cataract Surgery in Malignant Glaucoma from Complete Subluxation of Lens into Anterior Chamber. ⁶²	Sarrafpour S...Teng CC	35173401	2021
33	Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH. ⁶²	Van Hoorde T...Leroy BP	34018898	2021
34	[Comparison of biometric and structural ocular manifestations of Marfan syndrome in twins]. ⁶²	He Q...Wei RH	34256475	2021
35	Capsular tension ring assisted phacoemulsification of morgagnian cataract. ⁶²	Bardoloi N...Deb AK	34146028	2021
36	Anterior chamber intraocular lens - An effective alternative in traumatic and surgical aphakia in the era of scleral-fixated intraocular lens. ⁶²	Mahapatra SK...Mannem N	34011709	2021
37	Neonatal Onset Glaucoma in a Case with Gorlin-Goltz Syndrome: An Unusual Association. ⁶²	Tefon Aribas AB...Ozdek S	34720501	2021
38	Intraocular lens subluxation and decompensated pseudoexfoliation glaucoma in a patient's only reading eye May consultation #1. ⁶²	Menapace R	33908394	2021
39	Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination. ⁶²	Khan AO...Alkuraya FS	33951325	2021
40	Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature. ⁶²	Al Motawa MNA...Al Agnam AAM	34057920	2021
41	Risk factors of intraocular lens dislocation following routine cataract surgery: a case-control study. ⁶²	Fan Q...Yang J	33689608	2021
42	Unilateral and Spontaneous Complete Anterior Dislocation of the Crystalline Lens in a Patient With Homocystinuria. ⁶²	Miraftabi A...Abri Aghdam K	34079667	2021
43	Recurrent Intraocular Lens Dislocation in a Patient with Familial Ectopia Lentis. ⁶²	Wilczynski TK...Michalska-Malecka K	33922930	2021
44	Holistic Approach in the Management of Skeletal Deformity in a Case of Homocystinuria. ⁶²	Ramakrishnan E...Priyadharshini K	34327154	2021
45	Intrascleral 4-flanged technique for in-the-bag intraocular lens subluxation. ⁶²	Mahler OS...Einan-Lifshitz A	33149040	2021
46	Visual outcomes of lens subluxation surgery with Cionni modified capsular tension rings in Marfan syndrome. ⁶²	Chen T...Jiang Y	33542371	2021
47	Morphometric analysis of the lens in human aniridia and mouse Small eye. ⁶²	Voskresenskaya A...Duncan MK	33248069	2021
48	Outcomes of cataract surgery in pseudoexfoliation syndrome in England: 10-year retrospective cohort study. ⁶²	Ong AY...Shalchi Z	32826704	2021
49	The simply modified intrascleral fixation using round flange (SMURF) technique for intrascleral intraocular lens fixation. ⁶²	Kim S...Kim JT	33594097	2021
50	Effective treatment for secondary angle-closure glaucoma caused by traumatic lens subluxation: phacoemulsification with capsular-tension-ring implantation combined with ophthalmic endoscope-controlled goniosynechialysis. ⁶²	Dai Q...Pan WH	34667731	2021

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Genes for Lens Subluxation

Genes related to Lens Subluxation (2 elite genes):

(show all 23)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FBN1	Fibrillin 1	Protein Coding	446.63	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15834601 15254580
2	TFAP2A	Transcription Factor AP-2 Alpha	Protein Coding	400	Pathogenic ⁵
3	P3H2	Prolyl 3-Hydroxylase 2	Protein Coding	22.23	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
4	VSX2	Visual System Homeobox 2	Protein Coding	12.94	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
5	GALT	Galactose-1-Phosphate Uridylyltransferase	Protein Coding	7.84	GeneCards inferred via : Publications (show sections)
6	ADAMTS17	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17	Protein Coding	6.76	DISEASES inferred ¹⁴
7	ADAMTS10	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10	Protein Coding	6.74	DISEASES inferred ¹⁴
8	LOXL1	Lysyl Oxidase Like 1	Protein Coding	6.43	DISEASES inferred ¹⁴
9	ADAMTSL4	ADAMTS Like 4	Protein Coding	6.04	DISEASES inferred ¹⁴
10	LYSMD4	LysM Domain Containing 4	Protein Coding	6.03	DISEASES inferred ¹⁴
11	PAX6	Paired Box 6	Protein Coding	5.96	DISEASES inferred ¹⁴
12	LTBP2	Latent Transforming Growth Factor Beta Binding Protein 2	Protein Coding	5.8	DISEASES inferred ¹⁴
13	ADAMTSL2	ADAMTS Like 2	Protein Coding	5.44	DISEASES inferred ¹⁴
14	CPAMD8	C3 And PZP Like Alpha-2-Macroglobulin Domain Containing 8	Protein Coding	5.4	DISEASES inferred ¹⁴
15	FBN2	Fibrillin 2	Protein Coding	5.32	DISEASES inferred ¹⁴
16	CBS	Cystathionine Beta-Synthase	Protein Coding	5.3	DISEASES inferred ¹⁴
17	VPS13B	Vacuolar Protein Sorting 13 Homolog B	Protein Coding	5.28	DISEASES inferred ¹⁴
18	BFSP1	Beaded Filament Structural Protein 1	Protein Coding	5.25	DISEASES inferred ¹⁴
19	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	5.22	DISEASES inferred ¹⁴
20	SUOX	Sulfite Oxidase	Protein Coding	5.22	DISEASES inferred ¹⁴
21	FOXE3	Forkhead Box E3	Protein Coding	5.04	DISEASES inferred ¹⁴
22	CRYBA4	Crystallin Beta A4	Protein Coding	4.98	DISEASES inferred ¹⁴
23	CNOT11	CCR4-NOT Transcription Complex Subunit 11	Protein Coding	4.97	DISEASES inferred ¹⁴

Sources

Variations for Lens Subluxation

ClinVar genetic disease variations for Lens Subluxation:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TFAP2A	NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)	DEL	Pathogenic	523459	rs1554110735	GRCh37: 6:10398926-10398927 GRCh38: 6:10398693-10398694
2	FBN1	NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	SNV	Pathogenic	16440	rs137854467	GRCh37: 15:48892414-48892414 GRCh38: 15:48600217-48600217
3	FBN1	NM_000138.5(FBN1):c.1481G>T (p.Cys494Phe)	SNV	Likely Pathogenic	374079	rs1057518881	GRCh37: 15:48805853-48805853 GRCh38: 15:48513656-48513656

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Expression for Lens Subluxation

Search GEO for disease gene expression data for Lens Subluxation.

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Pathways for Lens Subluxation

Pathways related to Lens Subluxation according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Diseases of glycosylation ⁶⁶ Show member pathways Defective ALG1 causes CDG-1k ⁶⁶ Defective ALG11 causes CDG-1p ⁶⁶ Defective ALG12 causes CDG-1g ⁶⁶ Defective ALG14 causes ALG14-CMS ⁶⁶ Defective ALG2 causes CDG-1i ⁶⁶ Defective ALG3 causes CDG-1d ⁶⁶ Defective ALG6 causes CDG-1c ⁶⁶ Defective ALG8 causes CDG-1h ⁶⁶ Defective ALG9 causes CDG-1l ⁶⁶ Defective DPAGT1 causes CDG-1j, CMSTA2 ⁶⁶ Defective GNE causes sialuria, NK and IBM2 ⁶⁶ Defective MPDU1 causes CDG-1f ⁶⁶ Defective NEU1 causes sialidosis ⁶⁶ Defective RFT1 causes CDG-1n ⁶⁶ Diseases associated with glycosylation precursor biosynthesis ⁶⁶ Diseases associated with N-glycosylation of proteins ⁶⁶ Diseases of metabolism ⁶⁶ MPS IV - Morquio syndrome B ⁶⁶	12.41	GALT ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
2	O-linked glycosylation of mucins ⁶⁶ Show member pathways Defective C1GALT1C1 causes TNPS ⁶⁶ Defective GALNT12 causes CRCS1 ⁶⁶ Defective GALNT3 causes HFTC ⁶⁶ mucin core 1 and core 2 O-glycosylation ⁶¹ mucin core 3 and core 4 O-glycosylation ⁶¹ O-linked glycosylation ⁶⁶	12.08	ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
3	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	12.08	P3H2 LTBP3 LTBP2 LOXL1 FBN2 FBN1
4	Diseases associated with O-glycosylation of proteins ⁶⁶ Show member pathways Defective B3GALTL causes PpS ⁶⁶ Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 ⁶⁶ O-glycosylation of TSR domain-containing proteins ⁶⁶	11.78	ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
5	TGF-beta receptor signaling in skeletal dysplasias ⁷⁴ Show member pathways TGF-beta receptor signaling ⁷⁴	11.61	LTBP3 FBN1 ADAMTSL2 ADAMTS10
6	TGF-beta receptor signaling activates SMADs ⁶⁶ Show member pathways Downregulation of TGF-beta receptor signaling ⁶⁶ Loss of Function of SMAD2/3 in Cancer ⁶⁶ Loss of Function of TGFBR1 in Cancer ⁶⁶ Signaling by TGF-beta Receptor Complex in Cancer ⁶⁶ TGF-beta signaling pathway ⁷⁴ TGFBR1 LBD Mutants in Cancer ⁶⁶	11.6	LTBP3 LTBP2 FBN1
7	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	10.93	LTBP3 LTBP2 LOXL1 FBN2 FBN1
8	Hypothesized pathways in pathogenesis of cardiovascular disease ⁷⁴	10.73	LTBP2 FBN2 FBN1

Sources

GO Terms for Lens Subluxation

Cellular components related to Lens Subluxation according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	collagen-containing extracellular matrix	GO:0062023	9.8	LTBP3 LTBP2 LOXL1 FBN2 FBN1 ADAMTSL4
2	microfibril	GO:0001527	9.63	FBN2 FBN1 ADAMTS10
3	extracellular matrix	GO:0031012	9.5	LTBP3 LTBP2 LOXL1 FBN2 FBN1 ADAMTSL4

Biological processes related to Lens Subluxation according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix organization	GO:0030198	9.76	ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
2	embryonic eye morphogenesis	GO:0048048	9.56	FBN2 FBN1
3	camera-type eye development	GO:0043010	9.35	PAX6 FBN2 FBN1
4	sequestering of TGFbeta in extracellular matrix	GO:0035583	8.92	FBN2 FBN1

Molecular functions related to Lens Subluxation according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix constituent conferring elasticity	GO:0030023	9.26	FBN2 FBN1
2	microfibril binding	GO:0050436	8.92	LTBP2 ADAMTSL2

Sources

Sources for Lens Subluxation

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: LNS001 MIFTS: 40	Lens Subluxation Categories: Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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