ADAMTSL2 gene related symptoms and diseases
All the information presented here about the ADAMTSL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ADAMTSL2 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
High pitched voice | Very Common - Between 80% and 100% cases |
Ventricular hypertrophy | Very Common - Between 80% and 100% cases |
Small nail | Very Common - Between 80% and 100% cases |
Thickened skin | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ADAMTSL2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Aortic valve stenosis
- Joint contracture of the hand
- Coxa valga
- Aortic regurgitation
- Bicuspid aortic valve
- Short long bone
- Cone-shaped epiphysis
- Toe walking
And 47 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ADAMTSL2 gene
Here you will find a list of rare diseases related to the ADAMTSL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GELEOPHYSIC DYSPLASIA
Alternate names
GELEOPHYSIC DYSPLASIA Is also known as geleophysic dwarfism
Description
Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').
Most common symptoms of GELEOPHYSIC DYSPLASIA
- Seizures
- Global developmental delay
- Short stature
- Growth delay
- Hypertelorism
More info about GELEOPHYSIC DYSPLASIA
Search interest in ADAMTSL2
Potential gene panels for ADAMTSL2 gene
Lysosomal Storage Disease Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1
More info about this panelConnective Tissue Disorders Panel Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panelADAMTSL2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ADAMTSL2 gene.
More info about this panelGeleophysic Dysplasia 1 (sequence analysis of ADAMTSL2 gene) Panel
By CGC Genetics
This panel specifically test the ADAMTSL2 gene.
More info about this panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panelEhlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panelGeleophysic dysplasia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ADAMTSL2 gene.
More info about this panelMicromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel Panel
By CeGaT GmbH Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel that also includes the following genes: ROR2 TRPS1 WNT5A IFT122 ADAMTSL2 DDR2 IFT140 WDR35 ZSWIM6 IFT43
More info about this panelNGS panel - Ectopia lentis and/or Weill-Marchesani syndrome Panel
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 panelLysosomal Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
More info about this panelADAMTSL2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADAMTSL2 gene.
More info about this panelLysosomal Disorders and Mucopolysaccharidosis Panel Panel
By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelSkeletal Dysplasias Core Panel Panel
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panelMicromelic Dysplasia Panel Panel
By Blueprint Genetics Micromelic Dysplasia Panel that also includes the following genes: ROR2 BMPR1B SHOX SOX9 TRIP11 TRPS1 WNT5A ADAMTS10 IFT122 ADAMTSL2
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panelGeleophysic dysplasia 1 Panel
By Bioarray
This panel specifically test the ADAMTSL2 gene.
More info about this panelGeleophysic Dysplasia , Sequencing ADAMTSL2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ADAMTSL2 gene.
More info about this panelGeleophysic Dysplasia: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Geleophysic Dysplasia: gene sequencing panel that also includes the following genes: ADAMTSL2 FBN1 LTBP3
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