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 ⁵⁷ ⁷³ ²⁹ ⁶ ⁷¹

Ectol2 ⁵⁷ ¹² ⁷³

Ectopia Lentis, Isolated, Autosomal Recessive ⁵⁷ ¹³

Autosomal Recessive Isolated Ectopia Lentis 2 ¹² ¹⁵

Ectopia Lentis, Isolated Autosomal Recessive, Type 2 ³⁹

Ectopia Lentis, Isolated Autosomal Recessive ²⁰

Autosomal Recessive Isolated Ectopia Lentis ²⁰

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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® ⁵⁷ 225100

MeSH ⁴⁴ 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® : ⁵⁷ 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) (Updated 05-Mar-2021)

MalaCards based summary : Ectopia Lentis 2, Isolated, Autosomal Recessive, also known as ectol2, is related to isolated ectopia lentis and retinal detachment. 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 41)

#	Related Disease	Score	Top Affiliating Genes
1	isolated ectopia lentis	29.5	THSD4 SUOX FBN1 ADAMTSL4 ADAMTS10
2	retinal detachment	10.2
3	myopia	10.2
4	ectopia lentis et pupillae	10.2	ADAMTSL4-AS2 ADAMTSL4
5	hyperlysinemia, type i	10.2	SUOX ADAMTSL4
6	lens position anomaly	10.1	FBN1 ADAMTSL4
7	encephalopathy, ethylmalonic	10.0	SUOX CBSL
8	megalocornea	10.0	FBN1 ADAMTS10
9	weill-marchesani syndrome 1	10.0	FBN1 ADAMTS10
10	primary congenital glaucoma	10.0	FBN1 ADAMTS10
11	sulfite oxidase deficiency, isolated	9.9	SUOX ADAMTSL4 ADAMTS10
12	tracheal stenosis	9.9	FBN1 ADAMTSL4 ADAMTS10
13	costello syndrome	9.9	FBN1 EGF
14	tracheal disease	9.9	FBN1 ADAMTSL4 ADAMTS10
15	stiff skin syndrome	9.9	FBN1 ADAMTSL4 ADAMTS10
16	lens disease	9.8	FBN1 ADAMTSL4
17	tricuspid valve prolapse	9.8	TGFBR2 FBN1
18	loeys-dietz syndrome 5	9.8	TGFBR2 FBN1
19	heritable thoracic aortic disease	9.8	TGFBR2 FBN1
20	mitochondrial dna depletion syndrome 12b	9.8	TGFBR2 FBN1
21	loeys-dietz syndrome 3	9.8	TGFBR2 FBN1
22	arterial tortuosity syndrome	9.8	TGFBR2 FBN1
23	aortic valve insufficiency	9.8	TGFBR2 FBN1
24	homocystinuria	9.8	SUOX FBN1 EGF
25	loeys-dietz syndrome 4	9.8	TGFBR2 FBN1
26	loeys-dietz syndrome 2	9.8	TGFBR2 FBN1
27	loeys-dietz syndrome 1	9.8	TGFBR2 FBN1
28	collagen disease	9.7	TGFBR2 FBN1
29	estrogen-receptor negative breast cancer	9.7	TGFBR2 EGF
30	cutis laxa, autosomal dominant 1	9.7	TGFBR2 FBN1
31	acromicric dysplasia	9.7	THSD4 FBN1 ADAMTSL4 ADAMTS10
32	geleophysic dysplasia	9.7	THSD4 FBN1 ADAMTSL4 ADAMTS10
33	weill-marchesani syndrome	9.7	THSD4 FBN1 ADAMTSL4 ADAMTS10
34	craniosynostosis	9.6	TGFBR2 FBN1 ADAMTSL4
35	aortic aneurysm, familial thoracic 1	9.6	TGFBR2 FBN1
36	hemophilia b	9.6	FBN1 EGF
37	aortic valve disease 1	9.5	TGFBR2 FBN1 EGF
38	lens subluxation	9.3	SUOX FBN1 CBSL ADAMTSL4 ADAMTS10
39	marfan syndrome	9.3	THSD4 TGFBR2 FBN1 EGF
40	cataract	9.3	TGFBR2 FBN1 EGF ADAMTSL4
41	ectopia lentis 1, isolated, autosomal dominant	8.4	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®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Eyes:
ectopia lentis, uncomplicated

Clinical features from OMIM®:

225100 (Updated 05-Mar-2021)

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

⁴⁶

#	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. ⁵⁷ ⁶ ⁶¹	Ahram D...El-Shanti H	19200529	2009
2	A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. ⁵⁷ 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 ⁵⁷	Neuhann TM...Rump A	21051722	2011
4	A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. ⁵⁷ ⁶	Christensen AE...Rodahl E	20702823	2010
5	Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. ⁶ ⁵⁷	Aragon-Martin JA...Arno G	20564469	2010
6	Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. ⁵⁷ ⁶	Greene VB...Dollfus H	20141359	2010
7	Autosomal recessive ectopia lentis in two Arab family pedigrees. ⁶ ⁵⁷	al-Salem M	2377351	1990
8	Familial simple ectopia lentis. A probable autosomal recessive form. ⁵⁷	Ruiz C...Cantu JM	3491351	1986
9	Primordial dwarfism and ectopia lentis. ⁵⁷	McKUSICK VA	14388006	1955
10	Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina. ⁶¹	Chandra A...Charteris DG	23846871	2013
11	ADAMTSL4-Related Eye Disorders ⁶¹	Rodahl E...Knappskog PM	22338190	2012
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	PubMed IDs
1	ADAMTSL4	ADAMTS Like 4	Protein Coding	1051.98	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	2377351 19200529
2	ADAMTSL4-AS2	ADAMTSL4 Antisense RNA 2	RNA Gene	9.8	GeneCards inferred via : Variants (show sections)
3	SUOX	Sulfite Oxidase	Protein Coding	7.01	DISEASES inferred ¹⁵
4	THSD4	Thrombospondin Type 1 Domain Containing 4	Protein Coding	6.28	DISEASES inferred ¹⁵
5	ADAMTS10	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10	Protein Coding	5.91	DISEASES inferred ¹⁵
6	FBN1	Fibrillin 1	Protein Coding	4.47	DISEASES inferred ¹⁵
7	CBSL	Cystathionine Beta-Synthase Like	Protein Coding	4.4	DISEASES inferred ¹⁵
8	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	4.14	DISEASES inferred ¹⁵
9	EGF	Epidermal Growth Factor	Protein Coding	3.21	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 142)

#	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.2008C>T (p.Arg670Ter)	SNV	Likely pathogenic	39557	rs368482584	1:150529772-150529772	1:150557296-150557296
8	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2341C>T (p.Arg781Cys)	SNV	Uncertain significance	992534		1:150530584-150530584	1:150558108-150558108
9	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2087C>T (p.Ser696Leu)	SNV	Uncertain significance	292544	rs115937511	1:150530009-150530009	1:150557533-150557533
10	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2918G>A (p.Arg973Gln)	SNV	Uncertain significance	875435		1:150531917-150531917	1:150559441-150559441
11	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2944-7G>A	SNV	Uncertain significance	626060	rs193025475	1:150532230-150532230	1:150559754-150559754
12	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1676G>A (p.Arg559His)	SNV	Uncertain significance	876367		1:150529196-150529196	1:150556720-150556720
13	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1683C>T (p.Pro561=)	SNV	Uncertain significance	876368		1:150529203-150529203	1:150556727-150556727
14	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1892C>T (p.Pro631Leu)	SNV	Uncertain significance	876369		1:150529656-150529656	1:150557180-150557180
15	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2457C>T (p.Ser819=)	SNV	Uncertain significance	876406		1:150531023-150531023	1:150558547-150558547
16	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2483C>T (p.Pro828Leu)	SNV	Uncertain significance	876407		1:150531049-150531049	1:150558573-150558573
17	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2559+8C>T	SNV	Uncertain significance	876408		1:150531133-150531133	1:150558657-150558657
18	ADAMTSL4	NM_019032.6(ADAMTSL4):c.3078C>G (p.Ser1026Arg)	SNV	Uncertain significance	876459		1:150532371-150532371	1:150559895-150559895
19	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1776C>T (p.Gly592=)	SNV	Uncertain significance	292537	rs749692173	1:150529441-150529441	1:150556965-150556965
20	ADAMTSL4	NM_019032.5(ADAMTSL4):c.*670C>G	SNV	Uncertain significance	292578	rs774586242	1:150533342-150533342	1:150560866-150560866
21	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1534C>T (p.Arg512Trp)	SNV	Uncertain significance	292534	rs773512669	1:150528800-150528800	1:150556324-150556324
22	ADAMTSL4	NM_019032.5(ADAMTSL4):c.531C>T (p.Ser177=)	SNV	Uncertain significance	292520	rs199802790	1:150525998-150525998	1:150553522-150553522
23	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2703C>T (p.Arg901=)	SNV	Uncertain significance	292558	rs139006349	1:150531581-150531581	1:150559105-150559105
24	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1032C>T (p.Asn344=)	SNV	Uncertain significance	292527	rs370107497	1:150526499-150526499	1:150554023-150554023
25	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2882C>T (p.Ala961Val)	SNV	Uncertain significance	292561	rs587695953	1:150531881-150531881	1:150559405-150559405
26	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2963G>C (p.Gly988Ala)	SNV	Uncertain significance	292564	rs200172019	1:150532256-150532256	1:150559780-150559780
27	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1985G>A (p.Gly662Glu)	SNV	Uncertain significance	292543	rs886045268	1:150529749-150529749	1:150557273-150557273
28	ADAMTSL4	NM_019032.5(ADAMTSL4):c.749G>A (p.Arg250Gln)	SNV	Uncertain significance	292522	rs145673891	1:150526216-150526216	1:150553740-150553740
29	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2737C>T (p.Arg913Cys)	SNV	Uncertain significance	874505		1:150531615-150531615	1:150559139-150559139
30	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2839G>A (p.Val947Met)	SNV	Uncertain significance	874507		1:150531838-150531838	1:150559362-150559362
31	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2848C>T (p.Pro950Ser)	SNV	Uncertain significance	874508		1:150531847-150531847	1:150559371-150559371
32	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2849C>T (p.Pro950Leu)	SNV	Uncertain significance	874509		1:150531848-150531848	1:150559372-150559372
33	ADAMTSL4	NM_019032.6(ADAMTSL4):c.-236C>T	SNV	Uncertain significance	875231		1:150521898-150521898	1:150549422-150549422
34	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1142C>G (p.Pro381Arg)	SNV	Uncertain significance	875282		1:150526851-150526851	1:150554375-150554375
35	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1160G>A (p.Arg387Gln)	SNV	Uncertain significance	875283		1:150526869-150526869	1:150554393-150554393
36	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1186T>C (p.Ser396Pro)	SNV	Uncertain significance	875285		1:150526895-150526895	1:150554419-150554419
37	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2157C>T (p.His719=)	SNV	Uncertain significance	875325		1:150530079-150530079	1:150557603-150557603
38	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2190C>T (p.Gly730=)	SNV	Uncertain significance	746274	rs373005024	1:150530433-150530433	1:150557957-150557957
39	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2236C>T (p.Arg746Cys)	SNV	Uncertain significance	875326		1:150530479-150530479	1:150558003-150558003
40	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2251C>T (p.Arg751Trp)	SNV	Uncertain significance	875327		1:150530494-150530494	1:150558018-150558018
41	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2279C>T (p.Ser760Leu)	SNV	Uncertain significance	875328		1:150530522-150530522	1:150558046-150558046
42	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2293C>T (p.Arg765Cys)	SNV	Uncertain significance	875375		1:150530536-150530536	1:150558060-150558060
43	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2311C>T (p.Arg771Trp)	SNV	Uncertain significance	875376		1:150530554-150530554	1:150558078-150558078
44	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2312G>A (p.Arg771Gln)	SNV	Uncertain significance	875377		1:150530555-150530555	1:150558079-150558079
45	ADAMTSL4	NM_019032.6(ADAMTSL4):c.3020G>A (p.Arg1007Gln)	SNV	Uncertain significance	875436		1:150532313-150532313	1:150559837-150559837
46	ADAMTSL4	NM_019032.6(ADAMTSL4):c.162C>T (p.Ala54=)	SNV	Uncertain significance	876192		1:150525457-150525457	1:150552981-150552981
47	ADAMTSL4	NM_019032.6(ADAMTSL4):c.292C>T (p.Arg98Trp)	SNV	Uncertain significance	876193		1:150525587-150525587	1:150553111-150553111
48	ADAMTSL4	NM_019032.6(ADAMTSL4):c.420T>C (p.Ile140=)	SNV	Uncertain significance	876194		1:150525715-150525715	1:150553239-150553239
49	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1301C>T (p.Thr434Ile)	SNV	Uncertain significance	876243		1:150527971-150527971	1:150555495-150555495
50	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1388G>C (p.Gly463Ala)	SNV	Uncertain significance	876244		1:150528654-150528654	1:150556178-150556178

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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

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

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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