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,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ADAMTSL4 gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Ectopia lentis Common - Between 50% and 80% cases
Astigmatism Common - Between 50% and 80% cases
Ectopia pupillae Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ADAMTSL4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Visual impairment
  • Glaucoma
  • Not very common - Between 30% and 50% cases

  • Joint stiffness
  • Mandibular prognathia
  • Reduced visual acuity
  • Malar flattening
  • Abnormal heart morphology
  • Joint hypermobility

And 57 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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.


1Q21.1 MICRODUPLICATION SYNDROME


Alternate names

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1, dup(1)(q21.1)

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 1Q21.1 MICRODUPLICATION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about 1Q21.1 MICRODUPLICATION SYNDROME

SOURCES: ORPHANET OMIM MESH

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

  • Scoliosis
  • Nystagmus
  • Cataract
  • Cognitive impairment
  • Visual impairment


More info about ISOLATED ECTOPIA LENTIS

SOURCES: ORPHANET OMIM

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

  • Cataract
  • Visual impairment
  • Myopia
  • Dilatation
  • Glaucoma


More info about ECTOPIA LENTIS ET PUPILLAE

SOURCES: MESH OMIM


Potential gene panels for ADAMTSL4 gene

ADAMTSL4 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ADAMTSL4 gene.

More info about this panel

ADAMTSL4. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Familial ectopia lentis (sequence analysis of ADAMTSL4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Familial ectopia lentis (sequence analysis of ADAMTSL4 gene) Panel

Portugal.

By CGC Genetics

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

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Ectopia lentis Comprehensive panel Panel

United States.

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

More info about this panel

Ectopia lentis NGS panel Panel

United States.

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

More info about this panel

Ectopia lentis Deletion / Duplication panel Panel

United States.

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

More info about this panel

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

United States.

By Connective Tissue Gene Tests

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Ectopia lentis, isolated, autosomal recessive Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Ectopia lentis, isolated, autosomal recessive NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Ectopia Lentis Panel

Germany.

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

More info about this panel

ADAMTSL4-Related Eye Disorders Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Ectopia Lentis, Isolated Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Vascular and connective tissue diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1

More info about this panel

Ectopia lentis gene package Panel

Belgium.

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

More info about this panel

ADAMTSL4 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA

More info about this panel

Aortic Valvular Diseases Panel Panel

Spain.

By Health in Code Aortic Valvular Diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ADAMTSL4 COL1A2

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Aortic diseases Panel Panel

Spain.

By Health in Code Aortic diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS GATA5

More info about this panel

ADAMTSL4 single-gene sequencing  Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the ADAMTSL4 gene.

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Ectopia lentis: ADAMTSL4 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ADAMTSL4 gene.

More info about this panel

AORTOPATHIES, FAMILIAL Panel

Spain.

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

More info about this panel

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

Netherlands.

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

More info about this panel

ADAMTSL4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Marfan Syndrome Panel Panel

Finland.

By Blueprint Genetics Marfan Syndrome Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ADAMTS10 SLC2A10 CBS

More info about this panel

Aorta Panel Panel

Finland.

By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS

More info about this panel

Cataract Panel Panel

Finland.

By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1

More info about this panel

Ectopia Lentis Panel Panel

Finland.

By Blueprint Genetics Ectopia Lentis Panel that also includes the following genes: SUOX ADAMTS10 CBS ADAMTS17 AASS PORCN P3H2 ADAMTSL4 VSX2 BCOR

More info about this panel

Ectopia lentis syndrome autosomal reccesive Panel

Spain.

By Bioarray

This panel specifically test the ADAMTSL4 gene.

More info about this panel

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 ADAMTSL4 COL3A1 COL5A1 COL5A2

More info about this panel

MARFAN SYNDROME AND RELATED DISEASES: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MARFAN SYNDROME AND RELATED DISEASES: NGS PANEL that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 ADAMTSL4 COL3A1 COL5A1 COL5A2

More info about this panel

ECTOPIA LENTIS Panel

Spain.

By Laboratorio de Genetica Clinica SL ECTOPIA LENTIS that also includes the following genes: ADAMTSL4 FBN1

More info about this panel

Autosomal Recessive Isolated Ectopia Lentis , Sequencing ADAMTSL4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ADAMTSL4 gene.

More info about this panel

Familial Aortic Diseases , Panel Massive Sequencing 8 Genes Panel

Spain.

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

More info about this panel

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

Spain.

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

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ROBO1 MGAT2 BMPR1B TBX15

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more