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
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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

SOURCES: OMIM ORPHANET


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

CHST6 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the CHST6 gene.

More info about this panel

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

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

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

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

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

CHST6 single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the CHST6 gene.

More info about this panel

CIB2/USH1J Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the CHST6 gene.

More info about this panel

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

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

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

CHST6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CHST6 gene.

More info about this panel

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

MACULAR CORNEAL DYSTROPHY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CHST6 gene.

More info about this panel

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


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