ADAMTS17 gene related symptoms and diseases

All the information presented here about the ADAMTS17 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ADAMTS17 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Exotropia Very Common - Between 80% and 100% cases
Retinal hole Very Common - Between 80% and 100% cases
Microspherophakia Very Common - Between 80% and 100% cases
Iridodonesis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ADAMTS17 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Mydriasis
  • Anterior synechiae of the anterior chamber
  • Increased intraocular pressure
  • Ectopia lentis
  • Thickened skin
  • Cataract
  • High myopia
  • Short palm

And 6 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ADAMTS17 gene

Here you will find a list of rare diseases related to the ADAMTS17. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME


Alternate names

ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME Is also known as wmsl, weill-marchesani-like syndrome, 15q26.3 microdeletion syndrome

Description

Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by Shah et al., 2014).For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (OMIM ).

Most common symptoms of ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME

  • Short stature
  • Cataract
  • Brachydactyly
  • Myopia
  • Optic atrophy


More info about ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME

SOURCES: MESH ORPHANET OMIM


Potential gene panels for ADAMTS17 gene

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

Weill-Marchesani-Like Syndrome Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ADAMTS17 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

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

ADAMTS17 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADAMTS17 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

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

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


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