ADAMTSL4 gene related symptoms and diseases

All the information presented here about the ADAMTSL4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC.

Top 5 symptoms associated to ADAMTSL4 gene



Symptoms // Phenotype % Cases
Ectopia lentis Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Ectopia pupillae Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with ADAMTSL4 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases

Autosomal recessive inheritance

Rarely - Less than 30% cases

Reduced visual acuity Uveitis Posterior synechiae of the anterior chamber Iris atrophy Homocystinuria Abnormal pupil morphology Cystinuria

And 68 more phenotypes.

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Rare diseases associated to ADAMTSL4 gene

Here you will find a list of rare diseases related to the ADAMTSL4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHROMOSOME 1q21.1 DUPLICATION SYNDROME

Alternate names

CHROMOSOME 1q21.1 DUPLICATION SYNDROME Is also known as ;dup(1)(q21.1); trisomy 1q21.1

Description

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

Most common symptoms of CHROMOSOME 1q21.1 DUPLICATION SYNDROME

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


More info about CHROMOSOME 1q21.1 DUPLICATION SYNDROME

SOURCES: MESH MONDO UMLS ORPHANET GARD DOID OMIM

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 ).

Most common symptoms of ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2

  • Autosomal recessive inheritance
  • Scoliosis
  • Abnormality of the skeletal system
  • Reduced visual acuity
  • Abnormal heart morphology


More info about ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2

SOURCES: GARD UMLS OMIM DOID MONDO

ECTOPIA LENTIS ET PUPILLAE

Alternate names

ECTOPIA LENTIS ET PUPILLAE Is also known as ectopia lentis with ectopia of pupil

Description

Ectopia lentis et pupillae is a congenital hereditary disorder in which there is displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions (summary by Cruysberg and Pinckers, 1995). Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disc, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy (summary by Christensen et al., 2010).

Most common symptoms of ECTOPIA LENTIS ET PUPILLAE

  • Autosomal recessive inheritance
  • Cataract
  • Visual impairment
  • Myopia
  • Tics


More info about ECTOPIA LENTIS ET PUPILLAE

SOURCES: OMIM MESH UMLS SCTID MONDO

ISOLATED ECTOPIA LENTIS

Alternate names

ISOLATED ECTOPIA LENTIS Is also known as ectopia lentis syndrome; familial ectopia lentis

Description

Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.

Most common symptoms of ISOLATED ECTOPIA LENTIS

  • Nystagmus
  • Cataract
  • Cognitive impairment
  • Visual impairment
  • Hypertension


More info about ISOLATED ECTOPIA LENTIS

SOURCES: ORPHANET UMLS ICD10

Potential gene panels for ADAMTSL4 gene

ADAMTSL4 Panel

By Institute for Human Genetics University Clinic Freiburg in Germany.

This panel specifically test the ADAMTSL4 gene.

More info about this panel

ADAMTSL4. Complete sequencing Panel

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

This panel specifically test the ADAMTSL4 gene.

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Familial ectopia lentis (sequence analysis of ADAMTSL4 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ADAMTSL4 gene.

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Familial ectopia lentis (sequence analysis of ADAMTSL4 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Autosomal Recessive Isolated Ectopia Lentis-2 via ADAMTSL4 Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States.

This panel specifically test the ADAMTSL4 gene.

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Ectopia lentis Comprehensive panel Panel

By Connective Tissue Gene Tests in United States. Ectopia lentis Comprehensive panel that also includes the following genes: FBN1 ADAMTSL4

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Ectopia lentis NGS panel Panel

By Connective Tissue Gene Tests in United States. Ectopia lentis NGS panel that also includes the following genes: FBN1 ADAMTSL4

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Ectopia lentis Deletion / Duplication panel Panel

By Connective Tissue Gene Tests in United States. Ectopia lentis Deletion / Duplication panel that also includes the following genes: FBN1 ADAMTSL4

More info about this panel

Ectopia lentis, isolated, autosomal recessive Deletion / Duplication Test Panel

By Connective Tissue Gene Tests in United States.

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Ectopia lentis, isolated, autosomal recessive Comprehensive Test Panel

By Connective Tissue Gene Tests in United States.

This panel specifically test the ADAMTSL4 gene.

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Ectopia lentis, isolated, autosomal recessive NGS Test Panel

By Connective Tissue Gene Tests in United States.

This panel specifically test the ADAMTSL4 gene.

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Ectopia Lentis Panel

By MGZ Medical Genetics Center in Germany. Ectopia Lentis that also includes the following genes: COL2A1 FBN1 CBS COL11A1 COL18A1 ADAMTSL4 ADAMTS10 ASPH VCAN ADAMTS17

More info about this panel

ADAMTSL4-Related Eye Disorders Panel

By MGZ Medical Genetics Center in Germany.

This panel specifically test the ADAMTSL4 gene.

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Ectopia Lentis, Isolated Panel

By MGZ Medical Genetics Center in Germany.

This panel specifically test the ADAMTSL4 gene.

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Heart Diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Heart Diseases - panels that also includes the following genes: TTR AARS2 ACAD9 ACADM ACADS AGL ACADVL GAA ELN CPT2

More info about this panel

Eye Diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Eye Diseases - panels that also includes the following genes: C12orf65 FOXL2 RAX TYRP1 EYA1 LRP5 COL2A1 COL3A1 OCA2 VSX1

More info about this panel

Vascular and connective tissue diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Vascular and connective tissue diseases - panels that also includes the following genes: TTR AGL B4GALT7 ADSL COL1A1 COL1A2 COL3A1 AMACR POLG AFG3L2

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Ectopia lentis gene package Panel

By Connective Tissue Laboratory Ghent University Hospital in Belgium. Ectopia lentis gene package that also includes the following genes: FBN1 LTBP2 ADAMTSL4

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ADAMTSL4 mutational analysis Panel

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

This panel specifically test the ADAMTSL4 gene.

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Inherited Cardiovascular Diseases and Sudden Death Panel Panel

By Health in Code in Spain. Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: HFE TTR AARS2 ACAD9 ACADM AGL ACADVL ATPAF2 GAA COL1A1

More info about this panel

Aortic Valvular Diseases Panel Panel

By Health in Code in Spain. Aortic Valvular Diseases Panel that also includes the following genes: GAA COL1A1 COL1A2 COL3A1 ELN FBN1 CBS COL5A1 COL5A2 HRAS

More info about this panel

Cardiovascular Diseases_General Panel Panel

By Health in Code in Spain. Cardiovascular Diseases_General Panel that also includes the following genes: HFE TTR AARS2 ACAD9 AGL ACADVL ATP5F1E ATP7A ATPAF2 B4GALT7

More info about this panel

Aortic diseases Panel Panel

By Health in Code in Spain. Aortic diseases Panel that also includes the following genes: GAA COL1A1 COL1A2 COL3A1 ELN FBN1 CBS COL5A1 COL5A2 HRAS

More info about this panel

ADAMTSL4 single-gene sequencing  Panel

By Molecular Vision Laboratory in United States.

This panel specifically test the ADAMTSL4 gene.

More info about this panel

qGenEx Craniofacial Anomalies Panel

By Quantitative Genomic Medicine Laboratories, SL in Spain. qGenEx Craniofacial Anomalies that also includes the following genes: RECQL4 EYA1 COL2A1 PAX6 FOXC1 PITX2 OTX2 SHH DHODH BCOR

More info about this panel

Ectopia lentis: ADAMTSL4 gene sequence analysis Panel

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

This panel specifically test the ADAMTSL4 gene.

More info about this panel

AORTOPATHIES, FAMILIAL Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. AORTOPATHIES, FAMILIAL that also includes the following genes: FBN1 SMAD3 TGFBR1 TGFBR2 MYLK FBN2 ACTA2 TGFBR3 ADAMTSL4

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NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome Panel

By Genome Diagnostics VU University Medical Center in Netherlands. NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome that also includes the following genes: FBN1 CBS ADAMTSL2 LTBP2 ADAMTSL4 ADAMTS10 ADAMTS17

More info about this panel

ADAMTSL4 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Marfan Syndrome Panel Panel

By Blueprint Genetics in Finland. Marfan Syndrome Panel that also includes the following genes: COL2A1 COL1A1 COL1A2 COL3A1 FBN1 CBS COL5A1 COL5A2 PLOD1 COL11A1

More info about this panel

Aorta Panel Panel

By Blueprint Genetics in Finland. Aorta Panel that also includes the following genes: FBLN5 COL2A1 COL1A1 COL1A2 COL3A1 ELN FBN1 ALDH18A1 SLC39A13 CBS

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Cataract Panel Panel

By Blueprint Genetics in Finland. Cataract Panel that also includes the following genes: RECQL4 EYA1 COL2A1 PAX6 PITX3 ABCB6 WFS1 OCRL NDP NHS

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Ectopia Lentis Panel Panel

By Blueprint Genetics in Finland. Ectopia Lentis Panel that also includes the following genes: AASS FBN1 BCOR SUOX CBS PORCN LTBP2 VSX2 COL18A1 ADAMTSL4

More info about this panel

Ectopia lentis syndrome autosomal reccesive Panel

By Bioarray in Spain.

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Autosomal Recessive Isolated Ectopia Lentis , Sequencing ADAMTSL4 Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Familial Aortic Diseases , Panel Massive Sequencing 8 Genes Panel

By Reference Laboratory Genetics in Spain. Familial Aortic Diseases , Panel Massive Sequencing 8 Genes that also includes the following genes: FBN1 SMAD3 TGFBR1 TGFBR2 MYLK FBN2 ACTA2 ADAMTSL4

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Ectopia Lentis , Panel Massive Sequencing (NGS) ADAMTSL4, FBN1, LTBP2 Genes Panel

By Reference Laboratory Genetics in Spain. Ectopia Lentis , Panel Massive Sequencing (NGS) ADAMTSL4, FBN1, LTBP2 Genes that also includes the following genes: FBN1 LTBP2 ADAMTSL4

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