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 ⁷² ²⁹ ⁶ ⁷⁰

Ectol2 ⁵⁷ ¹² ⁷²

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 20-May-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 ⁷⁰ 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 20-May-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, retina and breast, 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 : ⁷² 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 42)

#	Related Disease	Score	Top Affiliating Genes
1	isolated ectopia lentis	29.3	THSD4 SUOX FBN1 ADAMTSL4-AS2 ADAMTSL4 ADAMTS10
2	retinal detachment	10.2
3	myopia	10.2
4	craniosynostosis with ectopia lentis	10.2	ADAMTSL4-AS2 ADAMTSL4
5	ectopia lentis et pupillae	10.2	ADAMTSL4-AS2 ADAMTSL4
6	hyperlysinemia, type i	10.2	SUOX ADAMTSL4
7	encephalopathy, ethylmalonic	10.0	SUOX CBSL
8	megalocornea	10.0	FBN1 ADAMTS10
9	weill-marchesani syndrome 1	10.0	FBN1 ADAMTS10
10	sulfite oxidase deficiency, isolated	9.9	SUOX ADAMTSL4 ADAMTS10
11	lens position anomaly	9.9	FBN1 ADAMTSL4-AS2 ADAMTSL4
12	primary congenital glaucoma	9.9	FBN1 ADAMTS10
13	tracheal stenosis	9.9	FBN1 ADAMTSL4 ADAMTS10
14	tracheal disease	9.9	FBN1 ADAMTSL4 ADAMTS10
15	stiff skin syndrome	9.9	FBN1 ADAMTSL4 ADAMTS10
16	subclavian artery aneurysm	9.8	TGFBR2 FBN1
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	loeys-dietz syndrome 4	9.8	TGFBR2 FBN1
23	arterial tortuosity syndrome	9.8	TGFBR2 FBN1
24	hemophilia b	9.8	FBN1 EGF
25	aortic valve insufficiency	9.8	TGFBR2 FBN1
26	loeys-dietz syndrome 2	9.8	TGFBR2 FBN1
27	loeys-dietz syndrome 1	9.8	TGFBR2 FBN1
28	lens disease	9.7	FBN1 ADAMTSL4
29	costello syndrome	9.7	FBN1 EGF
30	collagen disease	9.7	TGFBR2 FBN1
31	estrogen-receptor negative breast cancer	9.7	TGFBR2 EGF
32	cutis laxa, autosomal dominant 1	9.7	TGFBR2 FBN1
33	aortic aneurysm, familial thoracic 1	9.7	TGFBR2 FBN1
34	craniosynostosis	9.7	TGFBR2 FBN1 ADAMTSL4
35	acromicric dysplasia	9.7	THSD4 FBN1 ADAMTSL4 ADAMTS10
36	geleophysic dysplasia	9.7	THSD4 FBN1 ADAMTSL4 ADAMTS10
37	weill-marchesani syndrome	9.7	THSD4 FBN1 ADAMTSL4 ADAMTS10
38	homocystinuria	9.5	SUOX FBN1 EGF CBSL
39	lens subluxation	9.3	SUOX FBN1 CBSL ADAMTSL4 ADAMTS10
40	marfan syndrome	9.3	THSD4 TGFBR2 FBN1 EGF
41	cataract	9.3	TGFBR2 FBN1 EGF ADAMTSL4
42	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 20-May-2021)

Head And Neck Eyes:
ectopia lentis, uncomplicated

Clinical features from OMIM®:

225100 (Updated 20-May-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, Breast, Skin

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Publications for Ectopia Lentis 2, Isolated, Autosomal Recessive

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

(show all 14)

#	Title	Authors	PMID	Year
1	A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. ⁶ ⁶¹ ⁵⁷	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. ⁶ ⁵⁷	Christensen AE...Rodahl E	20702823	2010
5	Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. ⁵⁷ ⁶	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	ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. ⁶	Neuhann TM...Rittinger O	25975359	2015
9	Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4. ⁶	Chandra A...Arno G	22871183	2013
10	Familial simple ectopia lentis. A probable autosomal recessive form. ⁵⁷	Ruiz C...Cantu JM	3491351	1986
11	Primordial dwarfism and ectopia lentis. ⁵⁷	McKUSICK VA	14388006	1955
12	Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina. ⁶¹	Chandra A...Charteris DG	23846871	2013
13	ADAMTSL4-Related Eye Disorders ⁶¹	Rodahl E...Knappskog PM	22338190	2012
14	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 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ADAMTSL4	ADAMTS Like 4	Protein Coding	1051.8	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	409.71	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20141359
3	SUOX	Sulfite Oxidase	Protein Coding	7.01	DISEASES inferred ¹⁵
4	THSD4	Thrombospondin Type 1 Domain Containing 4	Protein Coding	6.27	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	4.46	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	3.2	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	Position
1	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1785T>G (p.Tyr595Ter)	SNV	Pathogenic	1349	rs118203985	GRCh37: 1:150529450-150529450 GRCh38: 1:150556974-150556974
2	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.5(ADAMTSL4):c.239del (p.Pro80fs)	Deletion	Pathogenic	39558	rs794726689	GRCh37: 1:150525532-150525532 GRCh38: 1:150553056-150553056
3	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2008C>T (p.Arg670Ter)	SNV	Pathogenic	39557	rs368482584	GRCh37: 1:150529772-150529772 GRCh38: 1:150557296-150557296
4	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.5(ADAMTSL4):c.826_836del (p.Arg276fs)	Deletion	Pathogenic	39556	rs794726688	GRCh37: 1:150526292-150526302 GRCh38: 1:150553816-150553826
5	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)	Deletion	Pathogenic	39555	rs199473693	GRCh37: 1:150526234-150526253 GRCh38: 1:150553750-150553769
6	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.5(ADAMTSL4):c.79-1G>A	SNV	Pathogenic	39554	rs587776927	GRCh37: 1:150525373-150525373 GRCh38: 1:150552897-150552897
7	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2008C>T (p.Arg670Ter)	SNV	Likely pathogenic	39557	rs368482584	GRCh37: 1:150529772-150529772 GRCh38: 1:150557296-150557296
8	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2341C>T (p.Arg781Cys)	SNV	Uncertain significance	992534		GRCh37: 1:150530584-150530584 GRCh38: 1:150558108-150558108
9	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2087C>T (p.Ser696Leu)	SNV	Uncertain significance	292544	rs115937511	GRCh37: 1:150530009-150530009 GRCh38: 1:150557533-150557533
10	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1676G>A (p.Arg559His)	SNV	Uncertain significance	876367		GRCh37: 1:150529196-150529196 GRCh38: 1:150556720-150556720
11	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1683C>T (p.Pro561=)	SNV	Uncertain significance	876368		GRCh37: 1:150529203-150529203 GRCh38: 1:150556727-150556727
12	ADAMTSL4	NM_019032.6(ADAMTSL4):c.1892C>T (p.Pro631Leu)	SNV	Uncertain significance	876369		GRCh37: 1:150529656-150529656 GRCh38: 1:150557180-150557180
13	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2457C>T (p.Ser819=)	SNV	Uncertain significance	876406		GRCh37: 1:150531023-150531023 GRCh38: 1:150558547-150558547
14	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2483C>T (p.Pro828Leu)	SNV	Uncertain significance	876407		GRCh37: 1:150531049-150531049 GRCh38: 1:150558573-150558573
15	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2559+8C>T	SNV	Uncertain significance	876408		GRCh37: 1:150531133-150531133 GRCh38: 1:150558657-150558657
16	ADAMTSL4	NM_019032.6(ADAMTSL4):c.3078C>G (p.Ser1026Arg)	SNV	Uncertain significance	876459		GRCh37: 1:150532371-150532371 GRCh38: 1:150559895-150559895
17	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2703C>T (p.Arg901=)	SNV	Uncertain significance	292558	rs139006349	GRCh37: 1:150531581-150531581 GRCh38: 1:150559105-150559105
18	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.5(ADAMTSL4):c.1032C>T (p.Asn344=)	SNV	Uncertain significance	292527	rs370107497	GRCh37: 1:150526499-150526499 GRCh38: 1:150554023-150554023
19	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2882C>T (p.Ala961Val)	SNV	Uncertain significance	292561	rs587695953	GRCh37: 1:150531881-150531881 GRCh38: 1:150559405-150559405
20	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2963G>C (p.Gly988Ala)	SNV	Uncertain significance	292564	rs200172019	GRCh37: 1:150532256-150532256 GRCh38: 1:150559780-150559780
21	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1985G>A (p.Gly662Glu)	SNV	Uncertain significance	292543	rs886045268	GRCh37: 1:150529749-150529749 GRCh38: 1:150557273-150557273
22	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2944-8C>T	SNV	Uncertain significance	292563	rs372461420	GRCh37: 1:150532229-150532229 GRCh38: 1:150559753-150559753
23	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.5(ADAMTSL4):c.749G>A (p.Arg250Gln)	SNV	Uncertain significance	292522	rs145673891	GRCh37: 1:150526216-150526216 GRCh38: 1:150553740-150553740
24	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.6(ADAMTSL4):c.1186T>C (p.Ser396Pro)	SNV	Uncertain significance	875285		GRCh37: 1:150526895-150526895 GRCh38: 1:150554419-150554419
25	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2157C>T (p.His719=)	SNV	Uncertain significance	875325		GRCh37: 1:150530079-150530079 GRCh38: 1:150557603-150557603
26	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2190C>T (p.Gly730=)	SNV	Uncertain significance	746274	rs373005024	GRCh37: 1:150530433-150530433 GRCh38: 1:150557957-150557957
27	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2236C>T (p.Arg746Cys)	SNV	Uncertain significance	875326		GRCh37: 1:150530479-150530479 GRCh38: 1:150558003-150558003
28	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2251C>T (p.Arg751Trp)	SNV	Uncertain significance	875327		GRCh37: 1:150530494-150530494 GRCh38: 1:150558018-150558018
29	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2279C>T (p.Ser760Leu)	SNV	Uncertain significance	875328		GRCh37: 1:150530522-150530522 GRCh38: 1:150558046-150558046
30	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2293C>T (p.Arg765Cys)	SNV	Uncertain significance	875375		GRCh37: 1:150530536-150530536 GRCh38: 1:150558060-150558060
31	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2311C>T (p.Arg771Trp)	SNV	Uncertain significance	875376		GRCh37: 1:150530554-150530554 GRCh38: 1:150558078-150558078
32	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2312G>A (p.Arg771Gln)	SNV	Uncertain significance	875377		GRCh37: 1:150530555-150530555 GRCh38: 1:150558079-150558079
33	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2839G>A (p.Val947Met)	SNV	Uncertain significance	874507		GRCh37: 1:150531838-150531838 GRCh38: 1:150559362-150559362
34	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2848C>T (p.Pro950Ser)	SNV	Uncertain significance	874508		GRCh37: 1:150531847-150531847 GRCh38: 1:150559371-150559371
35	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2849C>T (p.Pro950Leu)	SNV	Uncertain significance	874509		GRCh37: 1:150531848-150531848 GRCh38: 1:150559372-150559372
36	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.6(ADAMTSL4):c.-236C>T	SNV	Uncertain significance	875231		GRCh37: 1:150521898-150521898 GRCh38: 1:150549422-150549422
37	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.6(ADAMTSL4):c.1142C>G (p.Pro381Arg)	SNV	Uncertain significance	875282		GRCh37: 1:150526851-150526851 GRCh38: 1:150554375-150554375
38	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.6(ADAMTSL4):c.1160G>A (p.Arg387Gln)	SNV	Uncertain significance	875283		GRCh37: 1:150526869-150526869 GRCh38: 1:150554393-150554393
39	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2737C>T (p.Arg913Cys)	SNV	Uncertain significance	874505		GRCh37: 1:150531615-150531615 GRCh38: 1:150559139-150559139
40	ADAMTSL4	NM_019032.6(ADAMTSL4):c.2918G>A (p.Arg973Gln)	SNV	Uncertain significance	875435		GRCh37: 1:150531917-150531917 GRCh38: 1:150559441-150559441
41	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2944-7G>A	SNV	Uncertain significance	626060	rs193025475	GRCh37: 1:150532230-150532230 GRCh38: 1:150559754-150559754
42	ADAMTSL4	NM_019032.6(ADAMTSL4):c.3020G>A (p.Arg1007Gln)	SNV	Uncertain significance	875436		GRCh37: 1:150532313-150532313 GRCh38: 1:150559837-150559837
43	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.6(ADAMTSL4):c.162C>T (p.Ala54=)	SNV	Uncertain significance	876192		GRCh37: 1:150525457-150525457 GRCh38: 1:150552981-150552981
44	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.6(ADAMTSL4):c.292C>T (p.Arg98Trp)	SNV	Uncertain significance	876193		GRCh37: 1:150525587-150525587 GRCh38: 1:150553111-150553111
45	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.6(ADAMTSL4):c.420T>C (p.Ile140=)	SNV	Uncertain significance	876194		GRCh37: 1:150525715-150525715 GRCh38: 1:150553239-150553239
46	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.6(ADAMTSL4):c.1301C>T (p.Thr434Ile)	SNV	Uncertain significance	876243		GRCh37: 1:150527971-150527971 GRCh38: 1:150555495-150555495
47	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.6(ADAMTSL4):c.1388G>C (p.Gly463Ala)	SNV	Uncertain significance	876244		GRCh37: 1:150528654-150528654 GRCh38: 1:150556178-150556178
48	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.6(ADAMTSL4):c.1419C>T (p.Gly473=)	SNV	Uncertain significance	876245		GRCh37: 1:150528685-150528685 GRCh38: 1:150556209-150556209
49	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.6(ADAMTSL4):c.1551G>C (p.Gln517His)	SNV	Uncertain significance	876246		GRCh37: 1:150528817-150528817 GRCh38: 1:150556341-150556341
50	ADAMTSL4 , ADAMTSL4-AS2	NM_019032.6(ADAMTSL4):c.1577-5C>T	SNV	Uncertain significance	876247		GRCh37: 1:150529092-150529092 GRCh38: 1:150556616-150556616

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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

Sources

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

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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 (2 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