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.

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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

SOURCES: ORPHANET OMIM


Potential gene panels for ADAMTSL2 gene

Lysosomal Storage Disease Panel Panel

United States.

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 panel

Connective Tissue Disorders Panel Panel

United States.

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 panel

ADAMTSL2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ADAMTSL2 gene.

More info about this panel

Geleophysic Dysplasia 1 (sequence analysis of ADAMTSL2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ADAMTSL2 gene.

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

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 panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

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 panel

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

United States.

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 panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

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 panel

Geleophysic dysplasia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ADAMTSL2 gene.

More info about this panel

Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel Panel

Germany.

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 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

Lysosomal Disorders NGS Panel Panel

United States.

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 panel

ADAMTSL2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADAMTSL2 gene.

More info about this panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

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 panel

Comprehensive Metabolism Panel Panel

Finland.

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 panel

Skeletal Dysplasias Core Panel Panel

Finland.

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 panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

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 panel

Micromelic Dysplasia Panel Panel

Finland.

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 panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

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 panel

Geleophysic dysplasia 1 Panel

Spain.

By Bioarray

This panel specifically test the ADAMTSL2 gene.

More info about this panel

Geleophysic Dysplasia , Sequencing ADAMTSL2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ADAMTSL2 gene.

More info about this panel

Geleophysic Dysplasia: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Geleophysic Dysplasia: gene sequencing panel that also includes the following genes: ADAMTSL2 FBN1 LTBP3

More info about this panel


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