CHST6 gene related symptoms and diseases
All the information presented here about the CHST6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CHST6 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Visual impairment | Very Common - Between 80% and 100% cases |
| Abnormality of metabolism/homeostasis | Very Common - Between 80% and 100% cases |
| Visual loss | Very Common - Between 80% and 100% cases |
| Photophobia | Very Common - Between 80% and 100% cases |
| Corneal opacity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CHST6 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Corneal dystrophy
- Macular dystrophy
- Keratoconus
- Recurrent corneal erosions
- Punctate opacification of the cornea
Rare diseases associated to CHST6 gene
Here you will find a list of rare diseases related to the CHST6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MACULAR CORNEAL DYSTROPHY
Alternate names
MACULAR CORNEAL DYSTROPHY Is also known as macular corneal dystrophy, type i, corneal dystrophy, macular type, groenouw type ii corneal dystrophy, mcd, fehr corneal dystrophy, mcdc1, formerly, corneal dystrophy groenouw type ii
Description
Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.
Most common symptoms of MACULAR CORNEAL DYSTROPHY
- Visual impairment
- Abnormality of metabolism/homeostasis
- Visual loss
- Photophobia
- Corneal opacity
More info about MACULAR CORNEAL DYSTROPHY
Search interest in CHST6
Potential gene panels for CHST6 gene
Macular Degeneration Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Macular Degeneration Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RAX2 IMPG2 HMCN1
More info about this panel United States.
CHST6 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the CHST6 gene.
More info about this panel Germany.
Macular Corneal Dystrophy (MCD) via CHST6 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CHST6 gene.
More info about this panel United States.
Corneal Dystrophies Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Corneal Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 OVOL2 SLC4A11 COL8A2 CYP4V2 ZNF469
More info about this panel United States.
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.
Corneal Dystrophy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Corneal Dystrophy that also includes the following genes: SOD1 TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL17A1 COL8A2 CYP4V2
More info about this panel Estonia.
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.
CHST6 single gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the CHST6 gene.
More info about this panel United States.
CIB2/USH1J Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the CHST6 gene.
More info about this panel United States.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Congenital Disorders of Glycosylation: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel United States.
Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel United States.
CHST6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CHST6 gene.
More info about this panel United States.
Corneal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Corneal Dystrophy Panel that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI OVOL2 SLC4A11 COL17A1 COL5A1 COL8A2 CYP4V2
More info about this panel Finland.
MACULAR CORNEAL DYSTROPHY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CHST6 gene.
More info about this panel Spain.
Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes Panel
Spain.
By Reference Laboratory Genetics Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL5A1 COL8A2 CYP4V2 ZNF469
More info about this panel Spain.
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