Ectopia Lentis 2, Isolated, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ECTOL2 MCID: ECT101 MIFTS: 38	Ectopia Lentis 2, Isolated, Autosomal Recessive (ECTOL2) Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Ectopia Lentis 2, Isolated, Autosomal Recessive

MalaCards integrated aliases for Ectopia Lentis 2, Isolated, Autosomal Recessive:

Name: Ectopia Lentis 2, Isolated, Autosomal Recessive ⁵⁶ ⁷³ ²⁹ ⁶ ⁷¹

Ectol2 ⁵⁶ ¹² ⁷³

Ectopia Lentis, Isolated, Autosomal Recessive ⁵⁶ ¹³

Autosomal Recessive Isolated Ectopia Lentis 2 ¹² ¹⁵

Ectopia Lentis, Isolated Autosomal Recessive ⁵² ³⁹

Autosomal Recessive Isolated Ectopia Lentis ⁵²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

ectopia lentis 2, isolated, autosomal recessive:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111149

OMIM ⁵⁶ 225100

MeSH ⁴³ D004479

MedGen ⁴¹ C2673634 C3541474

SNOMED-CT via HPO ⁶⁸ 258211005 74969002

UMLS ⁷¹ C3541474

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Summaries for Ectopia Lentis 2, Isolated, Autosomal Recessive

OMIM : ⁵⁶ Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010). An autosomal dominant form of isolated ectopia lentis (ECTOL1; 129600) is caused by mutation in the FBN1 gene (134797). Ectopia lentis is a hallmark of several well-known syndromes, e.g., Marfan syndrome (154700), Weill-Marchesani syndrome (see 277600), and homocystinuria (236200). (225100)

MalaCards based summary : Ectopia Lentis 2, Isolated, Autosomal Recessive, also known as ectol2, is related to isolated ectopia lentis and ectopia lentis et pupillae. An important gene associated with Ectopia Lentis 2, Isolated, Autosomal Recessive is ADAMTSL4 (ADAMTS Like 4), and among its related pathways/superpathways are O-linked glycosylation and Diseases of glycosylation. Affiliated tissues include eye and retina, and related phenotypes are ectopia lentis and integument

Disease Ontology : ¹² An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.

UniProtKB/Swiss-Prot : ⁷³ Ectopia lentis 2, isolated, autosomal recessive: An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.

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Related Diseases for Ectopia Lentis 2, Isolated, Autosomal Recessive

Diseases in the Isolated Ectopia Lentis family:

Ectopia Lentis 1, Isolated, Autosomal Dominant

Ectopia Lentis 2, Isolated, Autosomal Recessive

Diseases related to Ectopia Lentis 2, Isolated, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)

#	Related Disease	Score	Top Affiliating Genes
1	isolated ectopia lentis	29.2	THSD4 SUOX FBN1 ADAMTSL4 ADAMTS10
2	ectopia lentis et pupillae	10.3	ADAMTSL4-AS2 ADAMTSL4
3	retinal detachment	10.3
4	joint laxity, short stature, and myopia	10.3
5	myopia	10.3
6	glaucoma 3, primary congenital, a	10.1	ADAMTSL4 ADAMTS10
7	tracheal disease	10.0	FBN1 ADAMTS10
8	megalocornea	10.0	FBN1 ADAMTS10
9	primary congenital glaucoma	9.9	FBN1 ADAMTS10
10	sulfite oxidase deficiency, isolated	9.9	SUOX ADAMTSL4 ADAMTS10
11	tricuspid valve prolapse	9.9	TGFBR2 FBN1
12	loeys-dietz syndrome 5	9.9	TGFBR2 FBN1
13	heritable thoracic aortic disease	9.9	TGFBR2 FBN1
14	loeys-dietz syndrome 3	9.9	TGFBR2 FBN1
15	loeys-dietz syndrome 4	9.9	TGFBR2 FBN1
16	arterial tortuosity syndrome	9.9	TGFBR2 FBN1
17	costello syndrome	9.9	FBN1 EGF
18	peters-plus syndrome	9.9	THSD4 ADAMTSL4 ADAMTS10
19	aortic valve insufficiency	9.9	TGFBR2 FBN1
20	aortic dissection	9.8	TGFBR2 FBN1
21	loeys-dietz syndrome 1	9.8	TGFBR2 FBN1
22	encephalopathy, ethylmalonic	9.8	SUOX CBSL
23	collagen disease	9.8	TGFBR2 FBN1
24	tracheal stenosis	9.8	FBN1 ADAMTSL4 ADAMTS10
25	stiff skin syndrome	9.8	FBN1 ADAMTSL4 ADAMTS10
26	estrogen-receptor negative breast cancer	9.8	TGFBR2 EGF
27	cutis laxa, autosomal dominant 1	9.7	TGFBR2 FBN1
28	familial thoracic aortic aneurysm and aortic dissection	9.7	TGFBR2 FBN1
29	brachydactyly	9.7	FBN1 ADAMTSL4 ADAMTS10
30	aneurysm	9.7	TGFBR2 FBN1
31	aortic aneurysm, familial thoracic 1	9.7	TGFBR2 FBN1
32	craniosynostosis	9.6	TGFBR2 FBN1 ADAMTSL4
33	patent ductus arteriosus 1	9.6	TGFBR2 FBN1
34	lens disease	9.6	FBN1 ADAMTSL4
35	hemophilia b	9.6	FBN1 EGF
36	lens subluxation	9.5	SUOX FBN1 ADAMTSL4 ADAMTS10
37	acromicric dysplasia	9.5	THSD4 FBN1 ADAMTSL4 ADAMTS10
38	geleophysic dysplasia	9.5	THSD4 FBN1 ADAMTSL4 ADAMTS10
39	weill-marchesani syndrome	9.2	THSD4 SUOX FBN1 ADAMTSL4 ADAMTS10
40	cataract	9.2	TGFBR2 FBN1 EGF ADAMTSL4
41	marfan syndrome	9.2	THSD4 TGFBR2 FBN1 EGF
42	homocystinuria	9.1	SUOX FBN1 EGF CBSL
43	ectopia lentis 1, isolated, autosomal dominant	7.8	THSD4 TGFBR2 SUOX FBN1 EGF CBSL

Graphical network of the top 20 diseases related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

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Symptoms & Phenotypes for Ectopia Lentis 2, Isolated, Autosomal Recessive

Human phenotypes related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	ectopia lentis ³¹		HP:0001083

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
ectopia lentis, uncomplicated

Clinical features from OMIM:

225100

MGI Mouse Phenotypes related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument	MP:0010771	9.1	ADAMTS10 ADAMTSL4 CBSL EGF FBN1 TGFBR2

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Drugs & Therapeutics for Ectopia Lentis 2, Isolated, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Ectopia Lentis 2, Isolated, Autosomal Recessive

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Genetic Tests for Ectopia Lentis 2, Isolated, Autosomal Recessive

Genetic tests related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Ectopia Lentis 2, Isolated, Autosomal Recessive ²⁹	ADAMTSL4

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Anatomical Context for Ectopia Lentis 2, Isolated, Autosomal Recessive

MalaCards organs/tissues related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

⁴⁰

Eye, Retina

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Publications for Ectopia Lentis 2, Isolated, Autosomal Recessive

Articles related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

(show all 12)

#	Title	Authors	PMID	Year
1	A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. ⁶¹ ⁶ ⁵⁶	Ahram D...El-Shanti H	19200529	2009
2	A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. ⁵⁶ ⁶	Chandra A...Arno G	22736615	2012
3	A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. ⁶ ⁵⁶	Neuhann TM...Rump A	21051722	2011
4	A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. ⁵⁶ ⁶	Christensen AE...Rodahl E	20702823	2010
5	Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. ⁶ ⁵⁶	Aragon-Martin JA...Arno G	20564469	2010
6	Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. ⁵⁶ ⁶	Greene VB...Dollfus H	20141359	2010
7	Autosomal recessive ectopia lentis in two Arab family pedigrees. ⁵⁶ ⁶	al-Salem M	2377351	1990
8	ADAMTSL4-Related Eye Disorders ⁶ ⁶¹	Rodahl E...Boman H	22338190	2012
9	Familial simple ectopia lentis. A probable autosomal recessive form. ⁵⁶	Ruiz C...Cantu JM	3491351	1986
10	Primordial dwarfism and ectopia lentis. ⁵⁶	McKUSICK VA	14388006	1955
11	Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina. ⁶¹	Chandra A...Charteris DG	23846871	2013
12	ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. ⁶¹	Gabriel LA...Apte SS	21989719	2012

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Genes for Ectopia Lentis 2, Isolated, Autosomal Recessive

Genes related to Ectopia Lentis 2, Isolated, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ADAMTSL4	ADAMTS Like 4	Protein Coding	1027.19	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	2377351 21051722 20141359 (more) 20564469 22338190 22736615 19200529 20702823
2	ADAMTSL4-AS2	ADAMTSL4 Antisense RNA 2	RNA Gene	9.9	GeneCards inferred via : Variants (show sections)
3	SUOX	Sulfite Oxidase	Protein Coding	7.06	DISEASES inferred ¹⁵
4	THSD4	Thrombospondin Type 1 Domain Containing 4	Protein Coding	6.22	DISEASES inferred ¹⁵
5	ADAMTS10	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10	Protein Coding	5.98	DISEASES inferred ¹⁵
6	FBN1	Fibrillin 1	Protein Coding	4.54	DISEASES inferred ¹⁵
7	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	4.27	DISEASES inferred ¹⁵
8	CBSL	Cystathionine Beta-Synthase Like	Protein Coding	4.22	DISEASES inferred ¹⁵
9	EGF	Epidermal Growth Factor	Protein Coding	3.29	DISEASES inferred ¹⁵

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Variations for Ectopia Lentis 2, Isolated, Autosomal Recessive

ClinVar genetic disease variations for Ectopia Lentis 2, Isolated, Autosomal Recessive:

⁶ (show top 50) (show all 138) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1785T>G (p.Tyr595Ter)	SNV	Pathogenic	1349	rs118203985	1:150529450-150529450	1:150556974-150556974
2	ADAMTSL4	NM_019032.5(ADAMTSL4):c.79-1G>A	SNV	Pathogenic	39554	rs587776927	1:150525373-150525373	1:150552897-150552897
3	ADAMTSL4	NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)	deletion	Pathogenic	39555	rs199473693	1:150526234-150526253	1:150553750-150553769
4	ADAMTSL4	NM_019032.5(ADAMTSL4):c.826_836del (p.Arg276fs)	deletion	Pathogenic	39556	rs794726688	1:150526292-150526302	1:150553816-150553826
5	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2008C>T (p.Arg670Ter)	SNV	Pathogenic	39557	rs368482584	1:150529772-150529772	1:150557296-150557296
6	ADAMTSL4	NM_019032.5(ADAMTSL4):c.239del (p.Pro80fs)	deletion	Pathogenic	39558	rs794726689	1:150525532-150525532	1:150553056-150553056
7	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2560-4G>A	SNV	Conflicting interpretations of pathogenicity	626059	rs374389962	1:150531434-150531434	1:150558958-150558958
8	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2944-7G>A	SNV	Conflicting interpretations of pathogenicity	626060	rs193025475	1:150532230-150532230	1:150559754-150559754
9	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2040C>T (p.Cys680=)	SNV	Conflicting interpretations of pathogenicity	724482		1:150529804-150529804	1:150557328-150557328
10	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2190C>T (p.Gly730=)	SNV	Conflicting interpretations of pathogenicity	746274		1:150530433-150530433	1:150557957-150557957
11	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1032C>T (p.Asn344=)	SNV	Conflicting interpretations of pathogenicity	292527	rs370107497	1:150526499-150526499	1:150554023-150554023
12	ADAMTSL4	NM_019032.5(ADAMTSL4):c.749G>A (p.Arg250Gln)	SNV	Conflicting interpretations of pathogenicity	292522	rs145673891	1:150526216-150526216	1:150553740-150553740
13	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2883C>G (p.Ala961=)	SNV	Conflicting interpretations of pathogenicity	292562	rs148110558	1:150531882-150531882	1:150559406-150559406
14	ADAMTSL4	NM_019032.5(ADAMTSL4):c.*333G>A	SNV	Uncertain significance	292573	rs587633776	1:150533005-150533005	1:150560529-150560529
15	ADAMTSL4	NM_019032.5(ADAMTSL4):c.*640C>A	SNV	Uncertain significance	292577	rs776897541	1:150533312-150533312	1:150560836-150560836
16	ADAMTSL4	NM_019032.5(ADAMTSL4):c.*670C>G	SNV	Uncertain significance	292578	rs774586242	1:150533342-150533342	1:150560866-150560866
17	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1009G>A (p.Ala337Thr)	SNV	Uncertain significance	292526	rs374008923	1:150526476-150526476	1:150554000-150554000
18	ADAMTSL4	NM_019032.5(ADAMTSL4):c.531C>T (p.Ser177=)	SNV	Uncertain significance	292520	rs199802790	1:150525998-150525998	1:150553522-150553522
19	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2795G>A (p.Arg932His)	SNV	Uncertain significance	292559	rs202037366	1:150531794-150531794	1:150559318-150559318
20	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1118C>A (p.Ala373Asp)	SNV	Uncertain significance	292528	rs749157895	1:150526585-150526585	1:150554109-150554109
21	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1131+15G>A	SNV	Uncertain significance	292530	rs772312644	1:150526613-150526613	1:150554137-150554137
22	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1464G>A (p.Ser488=)	SNV	Uncertain significance	292533	rs587675749	1:150528730-150528730	1:150556254-150556254
23	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1534C>T (p.Arg512Trp)	SNV	Uncertain significance	292534	rs773512669	1:150528800-150528800	1:150556324-150556324
24	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1776C>T (p.Gly592=)	SNV	Uncertain significance	292537	rs749692173	1:150529441-150529441	1:150556965-150556965
25	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1777G>A (p.Val593Ile)	SNV	Uncertain significance	292538	rs757656099	1:150529442-150529442	1:150556966-150556966
26	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1862-11C>T	SNV	Uncertain significance	292541	rs201593004	1:150529615-150529615	1:150557139-150557139
27	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1555C>T (p.Arg519Trp)	SNV	Uncertain significance	292535	rs369892162	1:150528821-150528821	1:150556345-150556345
28	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1985G>A (p.Gly662Glu)	SNV	Uncertain significance	292543	rs886045268	1:150529749-150529749	1:150557273-150557273
29	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2963G>C (p.Gly988Ala)	SNV	Uncertain significance	292564	rs200172019	1:150532256-150532256	1:150559780-150559780
30	ADAMTSL4	NM_019032.5(ADAMTSL4):c.*276G>A	SNV	Uncertain significance	292570	rs181259344	1:150532948-150532948	1:150560472-150560472
31	ADAMTSL4	NM_019032.5(ADAMTSL4):c.*332A>G	SNV	Uncertain significance	292572	rs886045270	1:150533004-150533004	1:150560528-150560528
32	ADAMTSL4	NM_019032.5(ADAMTSL4):c.*674C>T	SNV	Uncertain significance	292579	rs886045272	1:150533346-150533346	1:150560870-150560870
33	ADAMTSL4	NM_019032.5(ADAMTSL4):c.88G>A (p.Gly30Arg)	SNV	Uncertain significance	292516	rs755040821	1:150525383-150525383	1:150552907-150552907
34	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2882C>T (p.Ala961Val)	SNV	Uncertain significance	292561	rs587695953	1:150531881-150531881	1:150559405-150559405
35	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2559+9G>A	SNV	Uncertain significance	292555	rs12049100	1:150531134-150531134	1:150558658-150558658
36	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2703C>T (p.Arg901=)	SNV	Uncertain significance	292558	rs139006349	1:150531581-150531581	1:150559105-150559105
37	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2944-8C>T	SNV	Uncertain significance	292563	rs372461420	1:150532229-150532229	1:150559753-150559753
38	ADAMTSL4	NM_019032.5(ADAMTSL4):c.*407C>T	SNV	Uncertain significance	292574	rs745843292	1:150533079-150533079	1:150560603-150560603
39	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1159C>G (p.Arg387Gly)	SNV	Uncertain significance	292531	rs763308439	1:150526868-150526868	1:150554392-150554392
40	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2223C>T (p.Pro741=)	SNV	Uncertain significance	292547	rs587696191	1:150530466-150530466	1:150557990-150557990
41	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2265G>T (p.Gly755=)	SNV	Uncertain significance	292548	rs780658812	1:150530508-150530508	1:150558032-150558032
42	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2392C>T (p.Arg798Trp)	SNV	Uncertain significance	292552	rs763279620	1:150530958-150530958	1:150558482-150558482
43	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2442T>G (p.Asn814Lys)	SNV	Uncertain significance	827969		1:150531008-150531008	1:150558532-150558532
44	ADAMTSL4	NM_019032.6(ADAMTSL4):c.-236C>T	SNV	Uncertain significance	875231		1:150521898-150521898	1:150549422-150549422
45	ADAMTSL4	NM_019032.6(ADAMTSL4):c.162C>T (p.Ala54=)	SNV	Uncertain significance	876192		1:150525457-150525457	1:150552981-150552981
46	ADAMTSL4	NM_019032.6(ADAMTSL4):c.292C>T (p.Arg98Trp)	SNV	Uncertain significance	876193		1:150525587-150525587	1:150553111-150553111
47	ADAMTSL4	NM_019032.6(ADAMTSL4):c.420T>C (p.Ile140=)	SNV	Uncertain significance	876194		1:150525715-150525715	1:150553239-150553239
48	ADAMTSL4	NM_019032.6(ADAMTSL4):c.569G>T (p.Gly190Val)	SNV	Uncertain significance	876332		1:150526036-150526036	1:150553560-150553560
49	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1000C>G (p.His334Asp)	SNV	Uncertain significance	874362		1:150526467-150526467	1:150553991-150553991
50	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1130C>A (p.Ala377Glu)	SNV	Uncertain significance	874363		1:150526597-150526597	1:150554121-150554121

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Expression for Ectopia Lentis 2, Isolated, Autosomal Recessive

Search GEO for disease gene expression data for Ectopia Lentis 2, Isolated, Autosomal Recessive.

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Pathways for Ectopia Lentis 2, Isolated, Autosomal Recessive

Pathways related to Ectopia Lentis 2, Isolated, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	O-linked glycosylation ⁶⁵ Show member pathways O-linked glycosylation of mucins ⁶⁵	11.7	THSD4 ADAMTSL4 ADAMTS10
2	Diseases of glycosylation ⁶⁵ Show member pathways Diseases associated with O-glycosylation of proteins ⁶⁵	11.5	THSD4 ADAMTSL4 ADAMTS10
3	TGF-beta Receptor Signaling (WikiPathways) ¹	11.13	TGFBR2 EGF
4	TGF-beta signaling pathway (KEGG) ³⁶	11.1	THSD4 TGFBR2 FBN1
5	Hypothesized Pathways in Pathogenesis of Cardiovascular Disease ¹	10.72	TGFBR2 FBN1
6	O-glycosylation of TSR domain-containing proteins ⁶⁵ Show member pathways Defective B3GALTL causes Peters-plus syndrome (PpS) ⁶⁵	10.68	THSD4 ADAMTSL4 ADAMTS10

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GO Terms for Ectopia Lentis 2, Isolated, Autosomal Recessive

Cellular components related to Ectopia Lentis 2, Isolated, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	collagen-containing extracellular matrix	GO:0062023	9.46	THSD4 FBN1 ADAMTSL4 ADAMTS10
2	extracellular matrix	GO:0031012	9.26	THSD4 FBN1 ADAMTSL4 ADAMTS10
3	microfibril	GO:0001527	8.8	THSD4 FBN1 ADAMTS10

Biological processes related to Ectopia Lentis 2, Isolated, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix organization	GO:0030198	8.92	THSD4 FBN1 ADAMTSL4 ADAMTS10

Molecular functions related to Ectopia Lentis 2, Isolated, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	metalloendopeptidase activity	GO:0004222	8.8	THSD4 ADAMTSL4 ADAMTS10

Sources

Sources for Ectopia Lentis 2, Isolated, Autosomal Recessive

¹ BioSystems

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²⁰ GeneAnalytics

²¹ GeneCards

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²³ GeneHancer via GeneCards

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²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

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⁴⁰ MalaCards

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Ectopia Lentis 2, Isolated, Autosomal Recessive (ECTOL2)

Aliases & Classifications for Ectopia Lentis 2, Isolated, Autosomal Recessive

MalaCards integrated aliases for Ectopia Lentis 2, Isolated, Autosomal Recessive:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Ectopia Lentis 2, Isolated, Autosomal Recessive

Related Diseases for Ectopia Lentis 2, Isolated, Autosomal Recessive

Diseases in the Isolated Ectopia Lentis family:

Diseases related to Ectopia Lentis 2, Isolated, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

Symptoms & Phenotypes for Ectopia Lentis 2, Isolated, Autosomal Recessive

Human phenotypes related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

Drugs & Therapeutics for Ectopia Lentis 2, Isolated, Autosomal Recessive

Genetic Tests for Ectopia Lentis 2, Isolated, Autosomal Recessive

Genetic tests related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

Anatomical Context for Ectopia Lentis 2, Isolated, Autosomal Recessive

MalaCards organs/tissues related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

Publications for Ectopia Lentis 2, Isolated, Autosomal Recessive

Articles related to Ectopia Lentis 2, Isolated, Autosomal Recessive:

Genes for Ectopia Lentis 2, Isolated, Autosomal Recessive

Genes related to Ectopia Lentis 2, Isolated, Autosomal Recessive (1 elite genes):

Variations for Ectopia Lentis 2, Isolated, Autosomal Recessive

ClinVar genetic disease variations for Ectopia Lentis 2, Isolated, Autosomal Recessive:

Expression for Ectopia Lentis 2, Isolated, Autosomal Recessive

Pathways for Ectopia Lentis 2, Isolated, Autosomal Recessive

Pathways related to Ectopia Lentis 2, Isolated, Autosomal Recessive according to GeneCards Suite gene sharing:

GO Terms for Ectopia Lentis 2, Isolated, Autosomal Recessive

Cellular components related to Ectopia Lentis 2, Isolated, Autosomal Recessive according to GeneCards Suite gene sharing:

Biological processes related to Ectopia Lentis 2, Isolated, Autosomal Recessive according to GeneCards Suite gene sharing:

Molecular functions related to Ectopia Lentis 2, Isolated, Autosomal Recessive according to GeneCards Suite gene sharing:

Sources for Ectopia Lentis 2, Isolated, Autosomal Recessive