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

Sources

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 ⁷¹

Ectopia Lentis, Isolated Autosomal Recessive ⁵² ²⁹ ⁶ ³⁹

Ectol2 ⁵⁶ ¹² ⁷³

Ectopia Lentis, Isolated, Autosomal Recessive ⁵⁶ ¹³

Autosomal Recessive Isolated Ectopia Lentis 2 ¹² ¹⁵

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: 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

Sources

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 ectopia lentis, isolated autosomal recessive, 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 HIV Life Cycle and O-linked glycosylation. Affiliated tissues include eye, retina and bone, 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.

Sources

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 37)

#	Related Disease	Score	Top Affiliating Genes
1	isolated ectopia lentis	29.2	THSD4 SUOX FBN1 ADAMTSL4 ADAMTS10
2	retinal detachment	10.3
3	myopia	10.3
4	hyperlysinemia, type i	10.2	SUOX ADAMTSL4
5	tracheal disease	10.0	FBN1 ADAMTS10
6	megalocornea	10.0	FBN1 ADAMTS10
7	primary congenital glaucoma	9.9	FBN1 ADAMTS10
8	subclavian artery aneurysm	9.9	TGFBR2 FBN1
9	aneurysm	9.9	TGFBR2 FBN1
10	tricuspid valve prolapse	9.9	TGFBR2 FBN1
11	loeys-dietz syndrome 5	9.9	TGFBR2 FBN1
12	heritable thoracic aortic disease	9.9	TGFBR2 FBN1
13	loeys-dietz syndrome 3	9.9	TGFBR2 FBN1
14	loeys-dietz syndrome 4	9.9	TGFBR2 FBN1
15	arterial tortuosity syndrome	9.9	TGFBR2 FBN1
16	peters-plus syndrome	9.8	THSD4 ADAMTSL4 ADAMTS10
17	aortic valve insufficiency	9.8	TGFBR2 FBN1
18	lens disease	9.8	FBN1 ADAMTSL4
19	costello syndrome	9.8	FBN1 EGF
20	loeys-dietz syndrome 1	9.8	TGFBR2 FBN1
21	encephalopathy, ethylmalonic	9.8	SUOX CBSL
22	familial thoracic aortic aneurysm and dissection	9.8	TGFBR2 FBN1
23	tracheal stenosis	9.8	FBN1 ADAMTSL4 ADAMTS10
24	glaucoma 3, primary congenital, a	9.8	FBN1 ADAMTSL4 ADAMTS10
25	estrogen-receptor negative breast cancer	9.8	TGFBR2 EGF
26	aortic aneurysm, familial thoracic 1	9.7	TGFBR2 FBN1
27	cutis laxa, autosomal dominant 1	9.7	TGFBR2 FBN1
28	brachydactyly	9.7	FBN1 ADAMTSL4 ADAMTS10
29	glaucoma, primary open angle	9.7	FBN1 ADAMTS10
30	patent ductus arteriosus 1	9.7	TGFBR2 FBN1
31	craniosynostosis	9.6	TGFBR2 FBN1 ADAMTSL4
32	homocystinuria	9.6	SUOX FBN1
33	lens subluxation	9.5	SUOX FBN1 ADAMTSL4 ADAMTS10
34	aortic valve disease 1	9.4	TGFBR2 FBN1 EGF
35	marfan syndrome	9.2	THSD4 TGFBR2 FBN1 EGF
36	weill-marchesani syndrome	9.2	THSD4 SUOX FBN1 ADAMTSL4 ADAMTS10
37	ectopia lentis 1, isolated, autosomal dominant	7.7	THSD4 TGFBR2 SUOX FBN1 EGF CBSL

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

Sources

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	9.43	ADAMTS10 ADAMTSL4 CBSL EGF FBN1 TGFBR2
2	vision/eye	MP:0005391	9.02	ADAMTS10 ADAMTSL4 CBSL EGF TGFBR2

Sources

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

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

Sources

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, Isolated Autosomal Recessive ²⁹	ADAMTSL4

Sources

Anatomical Context for Ectopia Lentis 2, Isolated, Autosomal Recessive

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

⁴⁰

Eye, Retina, Bone, Breast

Sources

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 ⁵⁶ ⁶	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. ⁵⁶ ⁶	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. ⁵⁶ ⁶	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 ⁶¹ ⁶	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

Sources

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	1014.65	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)	22338190 20564469 21051722 (more) 19200529 20141359 20702823 2377351 22736615
2	SUOX	Sulfite Oxidase	Protein Coding	7.1	DISEASES inferred ¹⁵
3	THSD4	Thrombospondin Type 1 Domain Containing 4	Protein Coding	6.26	DISEASES inferred ¹⁵
4	ADAMTS10	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10	Protein Coding	5.97	DISEASES inferred ¹⁵
5	FBN1	Fibrillin 1	Protein Coding	4.56	DISEASES inferred ¹⁵
6	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	4.4	DISEASES inferred ¹⁵
7	CBSL	Cystathionine Beta-Synthase Like	Protein Coding	4.24	DISEASES inferred ¹⁵
8	EGF	Epidermal Growth Factor	Protein Coding	3.29	DISEASES inferred ¹⁵

Sources

Variations for Ectopia Lentis 2, Isolated, Autosomal Recessive

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

⁶ (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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_019032.5(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.1659del (p.Val554fs)	deletion	Uncertain significance	632082	rs1560296572	1:150529178-150529178	1:150556702-150556702
10	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1372-5_1372-2del	deletion	Uncertain significance	632081	rs1560294823	1:150528633-150528636	1:150556157-150556160
11	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1936G>A (p.Val646Met)	SNV	Uncertain significance	634507	rs765795619	1:150529700-150529700	1:150557224-150557224
12	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1234+90G>A	SNV	Uncertain significance	626056	rs762772611	1:150527033-150527033	1:150554557-150554557
13	ADAMTSL4	NM_019032.5(ADAMTSL4):c.1378G>A (p.Gly460Ser)	SNV	Uncertain significance	626057	rs587749107	1:150528644-150528644	1:150556168-150556168
14	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2178-10G>T	SNV	Uncertain significance	626058	rs766540875	1:150530411-150530411	1:150557935-150557935

Sources

Expression for Ectopia Lentis 2, Isolated, Autosomal Recessive

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

Sources

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	HIV Life Cycle ⁶⁵ Show member pathways 2-LTR circle formation ⁶⁵ APOBEC3G mediated resistance to HIV-1 infection ⁶⁵ Assembly Of The HIV Virion ⁶⁵ Binding and entry of HIV virion ⁶⁵ Disease ⁶⁵ Diseases of signal transduction ⁶⁵ Early Phase of HIV Life Cycle ⁶⁵ HIV Infection ⁶⁵ Host Interactions of HIV factors ⁶⁵ Infectious disease ⁶⁵ Integration of provirus ⁶⁵ Late Phase of HIV Life Cycle ⁶⁵	13.17	THSD4 TGFBR2 EGF ADAMTSL4 ADAMTS10
2	O-linked glycosylation ⁶⁵ Show member pathways O-linked glycosylation of mucins ⁶⁵	11.7	THSD4 ADAMTSL4 ADAMTS10
3	Diseases of glycosylation ⁶⁵ Show member pathways Diseases associated with O-glycosylation of proteins ⁶⁵	11.5	THSD4 ADAMTSL4 ADAMTS10
4	TGF-beta Receptor Signaling (WikiPathways) ¹	11.13	TGFBR2 EGF
5	TGF-beta signaling pathway (KEGG) ³⁶	11.1	THSD4 TGFBR2 FBN1
6	Hypothesized Pathways in Pathogenesis of Cardiovascular Disease ¹	10.72	TGFBR2 FBN1
7	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	extracellular matrix	GO:0031012	9.33	THSD4 FBN1 ADAMTSL4
2	collagen-containing extracellular matrix	GO:0062023	9.26	THSD4 FBN1 ADAMTSL4 ADAMTS10
3	microfibril	GO:0001527	8.8	THSD4 FBN1 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

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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 NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

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:

Sources for Ectopia Lentis 2, Isolated, Autosomal Recessive