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.
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
Search interest in ADAMTS17
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 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.
Weill-Marchesani-Like Syndrome Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ADAMTS17 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.
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.
ADAMTS17 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADAMTS17 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.
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.
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.
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