ADAMTS18 gene related symptoms and diseases

All the information presented here about the ADAMTS18 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ADAMTS18 gene

Symptoms // Phenotype % Cases
Depressivity Very Common - Between 80% and 100% cases
Posteriorly rotated ears Very Common - Between 80% and 100% cases
Telecanthus Very Common - Between 80% and 100% cases
Abnormality of the eye Very Common - Between 80% and 100% cases
Coloboma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ADAMTS18 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Wide nose
  • Microcornea
  • Broad nasal tip
  • Chorioretinal atrophy
  • Posterior subcapsular cataract
  • Chorioretinal degeneration
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Rare diseases associated to ADAMTS18 gene

Here you will find a list of rare diseases related to the ADAMTS18. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MICROCORNEA-MYOPIC CHORIORETINAL ATROPHY-TELECANTHUS SYNDROME


Alternate names

MICROCORNEA-MYOPIC CHORIORETINAL ATROPHY-TELECANTHUS SYNDROME Is also known as mmcat syndrome

Description

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.

Most common symptoms of MICROCORNEA-MYOPIC CHORIORETINAL ATROPHY-TELECANTHUS SYNDROME

  • Depressivity
  • Posteriorly rotated ears
  • Telecanthus
  • Abnormality of the eye
  • Coloboma


More info about MICROCORNEA-MYOPIC CHORIORETINAL ATROPHY-TELECANTHUS SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for ADAMTS18 gene

Microcornea, myopic chorioretinal atrophy and telecanthus (sequence analysis of ADAMTS18 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ADAMTS18 gene.

More info about this panel

Microcornea, myopic chorioretinal atrophy and telecanthus (sequence analysis of ADAMTS18 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ADAMTS18 gene.

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

ADAMTS18 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADAMTS18 gene.

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Cone Rod Dystrophy Panel Panel

Finland.

By Blueprint Genetics Cone Rod Dystrophy Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1

More info about this panel

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel

Finland.

By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN

More info about this panel

Cataract Panel Panel

Finland.

By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1

More info about this panel

Microcornea, Myopic Chorioretinal Atrophy and Telecanthus , Sequencing ADAMTS18 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ADAMTS18 gene.

More info about this panel


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