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.
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
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
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
Search interest in ADAMTSL4
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 Germany.
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 Spain.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
ADAMTSL4-Related Eye Disorders Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ADAMTSL4 gene.
More info about this panel Germany.
Ectopia Lentis, Isolated Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ADAMTSL4 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 Belgium.
ADAMTSL4 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the ADAMTSL4 gene.
More info about this panel Belgium.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
ADAMTSL4 single-gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the ADAMTSL4 gene.
More info about this panel United States.
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 Spain.
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 Spain.
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 Spain.
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 Netherlands.
ADAMTSL4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADAMTSL4 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
Ectopia lentis syndrome autosomal reccesive Panel
Spain.
By Bioarray
This panel specifically test the ADAMTSL4 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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