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

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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 ⁵⁸ ⁷⁶ ⁷⁴

Ectopia Lentis, Isolated Autosomal Recessive ⁵⁴ ³⁰ ⁶ ⁴¹

Ectol2 ⁵⁸ ¹² ⁷⁶

Ectopia Lentis, Isolated, Autosomal Recessive ⁵⁸ ¹³

Autosomal Recessive Isolated Ectopia Lentis 2 ¹²

Autosomal Recessive Isolated Ectopia Lentis ⁵⁴

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

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 ⁵⁸ 225100

MeSH ⁴⁵ D004479

MedGen ⁴³ C2673634 C3541474

SNOMED-CT via HPO ⁷⁰ 258211005 74969002

UMLS ⁷⁴ C3541474

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Summaries for Ectopia Lentis 2, Isolated, Autosomal Recessive

OMIM : ⁵⁸ 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. An important gene associated with Ectopia Lentis 2, Isolated, Autosomal Recessive is ADAMTSL4 (ADAMTS Like 4). Affiliated tissues include eye and bone, and related phenotype is ectopia lentis.

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 : ⁷⁶ 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:

#	Related Disease	Score	Top Affiliating Genes
1	isolated ectopia lentis	10.2

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

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

³³

#	Description	HPO Frequency	HPO Source Accession
1	ectopia lentis ³³		HP:0001083

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
ectopia lentis, uncomplicated

Clinical features from OMIM:

225100

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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, Isolated Autosomal Recessive ³⁰	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:

⁴²

Eye, Bone

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Publications for Ectopia Lentis 2, Isolated, Autosomal Recessive

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

#	Title	Authors	Year
1	A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. ( 22736615 )	Chandra A...Arno G	2012
2	A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. ( 21051722 )	Neuhann TM...Rump A	2011
3	A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. ( 20702823 )	Christensen AE...R?dahl E	2010
4	Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. ( 20141359 )	Greene VB...Dollfus H	2010
5	Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. ( 20564469 )	Aragon-Martin JA...Arno G	2010
6	A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. ( 19200529 )	Ahram D...El-Shanti H	2009
7	Autosomal recessive ectopia lentis in two Arab family pedigrees. ( 2377351 )	al-Salem M	1990

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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	1018.54	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders (show sections)	19200529 2377351 22338190 (more) 20141359 20702823 20564469 21051722 22736615

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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 all 22)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ADAMTSL4	NM_019032.5(ADAMTSL4): c.1785T> G (p.Tyr595Ter)	single nucleotide variant	Pathogenic	rs118203985	GRCh37	Chromosome 1, 150529450: 150529450
2	ADAMTSL4	NM_019032.5(ADAMTSL4): c.1785T> G (p.Tyr595Ter)	single nucleotide variant	Pathogenic	rs118203985	GRCh38	Chromosome 1, 150556974: 150556974
3	ADAMTSL4	NM_019032.5(ADAMTSL4): c.79-1G> A	single nucleotide variant	Pathogenic	rs587776927	GRCh37	Chromosome 1, 150525373: 150525373
4	ADAMTSL4	NM_019032.5(ADAMTSL4): c.79-1G> A	single nucleotide variant	Pathogenic	rs587776927	GRCh38	Chromosome 1, 150552897: 150552897
5	ADAMTSL4	NM_019032.5(ADAMTSL4): c.767_786del20 (p.Gln256Profs)	deletion	Pathogenic	rs199473693	GRCh37	Chromosome 1, 150526234: 150526253
6	ADAMTSL4	NM_019032.5(ADAMTSL4): c.767_786del20 (p.Gln256Profs)	deletion	Pathogenic	rs199473693	GRCh38	Chromosome 1, 150553758: 150553777
7	ADAMTSL4	NM_019032.5(ADAMTSL4): c.826_836del11 (p.Arg276Serfs)	deletion	Pathogenic	rs794726688	GRCh37	Chromosome 1, 150526293: 150526303
8	ADAMTSL4	NM_019032.5(ADAMTSL4): c.826_836del11 (p.Arg276Serfs)	deletion	Pathogenic	rs794726688	GRCh38	Chromosome 1, 150553817: 150553827
9	ADAMTSL4	NM_019032.5(ADAMTSL4): c.2008C> T (p.Arg670Ter)	single nucleotide variant	Pathogenic	rs368482584	GRCh37	Chromosome 1, 150529772: 150529772
10	ADAMTSL4	NM_019032.5(ADAMTSL4): c.2008C> T (p.Arg670Ter)	single nucleotide variant	Pathogenic	rs368482584	GRCh38	Chromosome 1, 150557296: 150557296
11	ADAMTSL4	NM_019032.5(ADAMTSL4): c.239delC (p.Pro80Argfs)	deletion	Pathogenic	rs794726689	GRCh37	Chromosome 1, 150525534: 150525534
12	ADAMTSL4	NM_019032.5(ADAMTSL4): c.239delC (p.Pro80Argfs)	deletion	Pathogenic	rs794726689	GRCh38	Chromosome 1, 150553058: 150553058
13	ADAMTSL4	NM_019032.5(ADAMTSL4): c.1234+90G> A	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 150527033: 150527033
14	ADAMTSL4	NM_019032.5(ADAMTSL4): c.1234+90G> A	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 150554557: 150554557
15	ADAMTSL4	NM_019032.5(ADAMTSL4): c.1378G> A (p.Gly460Ser)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 150528644: 150528644
16	ADAMTSL4	NM_019032.5(ADAMTSL4): c.1378G> A (p.Gly460Ser)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 150556168: 150556168
17	ADAMTSL4	NM_019032.5(ADAMTSL4): c.2178-10G> T	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 150530411: 150530411
18	ADAMTSL4	NM_019032.5(ADAMTSL4): c.2178-10G> T	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 150557935: 150557935
19	ADAMTSL4	NM_019032.5(ADAMTSL4): c.2560-4G> A	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 150531434: 150531434
20	ADAMTSL4	NM_019032.5(ADAMTSL4): c.2560-4G> A	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 150558958: 150558958
21	ADAMTSL4	NM_019032.5(ADAMTSL4): c.2944-7G> A	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 150532230: 150532230
22	ADAMTSL4	NM_019032.5(ADAMTSL4): c.2944-7G> A	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 150559754: 150559754

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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

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GO Terms for Ectopia Lentis 2, Isolated, Autosomal Recessive

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Sources for Ectopia Lentis 2, Isolated, Autosomal Recessive

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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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:

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:

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

GO Terms for Ectopia Lentis 2, Isolated, Autosomal Recessive

Sources for Ectopia Lentis 2, Isolated, Autosomal Recessive