ADAMTS10 gene related symptoms and diseases

All the information presented here about the ADAMTS10 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ADAMTS10 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Cataract Very Common - Between 80% and 100% cases
Brachydactyly Very Common - Between 80% and 100% cases
Ventricular septal defect Very Common - Between 80% and 100% cases
Intellectual disability, mild Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ADAMTS10 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Ectopia lentis
  • Glaucoma
  • Pulmonic stenosis
  • Aortic valve stenosis
  • High myopia
  • Mitral regurgitation
  • Thickened skin
  • Not very common - Between 30% and 50% cases

  • Proportionate short stature

And 31 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ADAMTS10 gene

Here you will find a list of rare diseases related to the ADAMTS10. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


WEILL-MARCHESANI SYNDROME


Alternate names

WEILL-MARCHESANI SYNDROME Is also known as spherophakia-brachymorphia syndrome

Description

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

Most common symptoms of WEILL-MARCHESANI SYNDROME

  • Short stature
  • Cataract
  • Brachydactyly
  • Ventricular septal defect
  • Intellectual disability, mild


More info about WEILL-MARCHESANI SYNDROME

SOURCES: ORPHANET

WEILL-MARCHESANI SYNDROME 1; WMS1


Alternate names

WEILL-MARCHESANI SYNDROME 1; WMS1 Is also known as weill-marchesani syndrome, autosomal recessive, mesodermal dysmorphodystrophy, congenital, spherophakia-brachymorphia syndrome

Description

Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). Genetic Heterogeneity of Weill-Marchesani SyndromeA phenotypically similar, autosomal dominant form of WMS (WMS2 ) is caused by mutation in the FBN1 gene (OMIM ) on chromosome 15q21. Autosomal recessive WMS3 (OMIM ) is caused by mutation in the LTBP2 gene (OMIM ) on chromosome 14q24. Autosomal recessive WMS4 (OMIM ) is caused by mutation in the ADAMTS17 gene (OMIM ) on chromosome 15q24.

Most common symptoms of WEILL-MARCHESANI SYNDROME 1; WMS1

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


More info about WEILL-MARCHESANI SYNDROME 1; WMS1

SOURCES: OMIM


Potential gene panels for ADAMTS10 gene

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

ADAMTS10. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ADAMTS10 gene.

More info about this panel

Weill-Marchesani Syndrome 1 (sequence analysis of ADAMTS10 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ADAMTS10 gene.

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

Weill-Marchesani syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Weill-Marchesani syndrome NGS panel that also includes the following genes: ADAMTS10 ADAMTS17 FBN1 LTBP2

More info about this panel

Weill-Marchesani syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Weill-Marchesani syndrome Comprehensive panel that also includes the following genes: ADAMTS10 ADAMTS17 FBN1 LTBP2

More info about this panel

Weill-Marchesani syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Weill-Marchesani syndrome Deletion / Duplication panel that also includes the following genes: ADAMTS10 ADAMTS17 FBN1 LTBP2

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

ADAMTS10-Related Weill-Marchesani Syndrome Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ADAMTS10 gene.

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

Weill-Marchesani syndrome - AR Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ADAMTS10 gene.

More info about this panel

HAD panel 2 Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital HAD panel 2 that also includes the following genes: ADAMTS10 SLC2A10 EFEMP2 ELN FBN2 FLNA MYLK NOTCH1 PRKG1

More info about this panel

ADAMTS10 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the ADAMTS10 gene.

More info about this panel

Weill-Marchesani syndrome: ADAMTS10 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ADAMTS10 gene.

More info about this panel

Weill-Marchesani syndrome: ADAMTS10 gene screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ADAMTS10 gene.

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 Storage Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3

More info about this panel

ADAMTS10 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADAMTS10 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

Congenital Structural Heart Disease Panel Panel

Finland.

By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB

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

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

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

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

Weill-Marchesani syndrome Panel

Spain.

By Bioarray

This panel specifically test the ADAMTS10 gene.

More info about this panel

WEILL MARCHESANI SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ADAMTS10 gene.

More info about this panel

Weill-Marchesani Syndrome, Sequencing ADAMTS10 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ADAMTS10 gene.

More info about this panel

Weill-Marchesani Syndrome, Screening Mutations ADAMTS10 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ADAMTS10 gene.

More info about this panel

Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel

Spain.

By Reference Laboratory Genetics Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 ADAMTS10 SLC2A10 CBS ACVR1

More info about this panel

Weill-Marchesani Syndrome: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Weill-Marchesani Syndrome: gene sequencing panel that also includes the following genes: ADAMTS10 FBN1 LTBP2

More info about this panel


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