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.
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).
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
Search interest in ADAMTS10
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 United States.
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 Spain.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 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.
ADAMTS10-Related Weill-Marchesani Syndrome Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ADAMTS10 gene.
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.
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 Germany.
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 Belgium.
ADAMTS10 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the ADAMTS10 gene.
More info about this panel Belgium.
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 Spain.
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 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.
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 United States.
ADAMTS10 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADAMTS10 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.
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 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.
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 Finland.
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 Finland.
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 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.
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 Finland.
Weill-Marchesani syndrome Panel
Spain.
By Bioarray
This panel specifically test the ADAMTS10 gene.
More info about this panel Spain.
WEILL MARCHESANI SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ADAMTS10 gene.
More info about this panel Spain.
Weill-Marchesani Syndrome, Sequencing ADAMTS10 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ADAMTS10 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Canada.
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