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
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
Search interest in ADAMTS18
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 Portugal.
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 Portugal.
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 United States.
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 Estonia.
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 United States.
ADAMTS18 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADAMTS18 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Spain.
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