Ectopia Lentis 2, Isolated, Autosomal Recessive; Ectol2

Description

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 ) is caused by mutation in the FBN1 gene (OMIM ).Ectopia lentis is a hallmark of several well-known syndromes, e.g., Marfan syndrome (OMIM ), Weill-Marchesani syndrome (see {277600}), and homocystinuria (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Ectopia Lentis 2, Isolated, Autosomal Recessive; Ectol2

  • Scoliosis
  • Abnormality of the skeletal system
  • Reduced visual acuity
  • Abnormal heart morphology
  • Arachnodactyly
  • Joint hypermobility
  • Astigmatism
  • Ectopia lentis
  • Ketonuria
  • Uveitis
And another 7 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Ectopia Lentis 2, Isolated, Autosomal Recessive; Ectol2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ADAMTSL4.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ADAMTSL4
Specificity
100 %
Genes
100 %
ADAMTSL4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ADAMTSL4
Specificity
100 %
Genes
100 %
Familial ectopia lentis (sequence analysis of ADAMTSL4 gene).

By CGC Genetics in Portugal.

ADAMTSL4
Specificity
100 %
Genes
100 %
Familial ectopia lentis (sequence analysis of ADAMTSL4 gene).

By CGC Genetics in Portugal.

ADAMTSL4
Specificity
100 %
Genes
100 %
Autosomal Recessive Isolated Ectopia Lentis-2 via ADAMTSL4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ADAMTSL4
Specificity
100 %
Genes
100 %
Ectopia lentis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FBN1, ADAMTSL4
Specificity
50 %
Genes
100 %
Ectopia lentis NGS panel.

By Connective Tissue Gene Tests in United States.

FBN1, ADAMTSL4
Specificity
50 %
Genes
100 %
Ectopia lentis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FBN1, ADAMTSL4
Specificity
50 %
Genes
100 %
Ectopia lentis, isolated, autosomal recessive Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

ADAMTSL4
Specificity
100 %
Genes
100 %
Ectopia lentis, isolated, autosomal recessive Comprehensive Test.

By Connective Tissue Gene Tests in United States.

ADAMTSL4
Specificity
100 %
Genes
100 %
Ectopia lentis, isolated, autosomal recessive NGS Test.

By Connective Tissue Gene Tests in United States.

ADAMTSL4
Specificity
100 %
Genes
100 %
Ectopia Lentis.

By MGZ Medical Genetics Center in Germany.

COL2A1, FBN1, CBS, COL11A1, COL18A1, ADAMTSL4, ADAMTS10, ASPH, VCAN, ADAMTS17
Specificity
10 %
Genes
100 %
ADAMTSL4-Related Eye Disorders.

By MGZ Medical Genetics Center in Germany.

ADAMTSL4
Specificity
100 %
Genes
100 %
Ectopia Lentis, Isolated.

By MGZ Medical Genetics Center in Germany.

ADAMTSL4
Specificity
100 %
Genes
100 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
100 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Ectopia lentis gene package.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

FBN1, LTBP2, ADAMTSL4
Specificity
34 %
Genes
100 %
ADAMTSL4 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

ADAMTSL4
Specificity
100 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
100 %
Aortic Valvular Diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Aortic diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, MED12, ZDHHC9, TGFB2, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
ADAMTSL4 single-gene sequencing .

By Molecular Vision Laboratory in United States.

ADAMTSL4
Specificity
100 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Ectopia lentis: ADAMTSL4 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ADAMTSL4
Specificity
100 %
Genes
100 %
AORTOPATHIES, FAMILIAL.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

FBN1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, TGFBR3, ADAMTSL4
Specificity
12 %
Genes
100 %
NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome.

By Genome Diagnostics VU University Medical Center in Netherlands.

FBN1, CBS, ADAMTSL2, LTBP2, ADAMTSL4, ADAMTS10, ADAMTS17
Specificity
15 %
Genes
100 %
ADAMTSL4.

By Fulgent Genetics Fulgent Genetics in United States.

ADAMTSL4
Specificity
100 %
Genes
100 %
Marfan Syndrome Panel.

By Blueprint Genetics in Finland.

COL2A1, COL1A1, COL1A2, COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, COL11A1, COL11A2, MED12, UPF3B, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, SLC2A10 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Aorta Panel.

By Blueprint Genetics in Finland.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Ectopia Lentis Panel.

By Blueprint Genetics in Finland.

AASS, FBN1, BCOR, SUOX, CBS, PORCN, LTBP2, VSX2, COL18A1, ADAMTSL4, ADAMTS10, ASPH, P3H2, ADAMTS17
Specificity
8 %
Genes
100 %
Ectopia lentis syndrome autosomal reccesive.

By Bioarray in Spain.

ADAMTSL4
Specificity
100 %
Genes
100 %
Autosomal Recessive Isolated Ectopia Lentis , Sequencing ADAMTSL4 Gene.

By Reference Laboratory Genetics in Spain.

ADAMTSL4
Specificity
100 %
Genes
100 %
Familial Aortic Diseases , Panel Massive Sequencing 8 Genes.

By Reference Laboratory Genetics in Spain.

FBN1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, ADAMTSL4
Specificity
13 %
Genes
100 %
Ectopia Lentis , Panel Massive Sequencing (NGS) ADAMTSL4, FBN1, LTBP2 Genes.

By Reference Laboratory Genetics in Spain.

FBN1, LTBP2, ADAMTSL4
Specificity
34 %
Genes
100 %


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