ATF6 gene related symptoms and diseases
All the information presented here about the ATF6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATF6 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Photophobia | Very Common - Between 80% and 100% cases |
| Nystagmus | Common - Between 50% and 80% cases |
| Central scotoma | Common - Between 50% and 80% cases |
| Visual impairment | Common - Between 50% and 80% cases |
| Dyschromatopsia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ATF6 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypoplasia of the fovea
- Achromatopsia
- Reduced visual acuity
- Blindness
Not very common - Between 30% and 50% cases
- Retinal degeneration
- Nyctalopia
- Monochromacy
- Macular atrophy
And 18 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATF6 gene
Here you will find a list of rare diseases related to the ATF6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACHROMATOPSIA
Alternate names
ACHROMATOPSIA Is also known as total color blindness, rod monochromatism, rod monochromacy 2, rmch2, colorblindness, total, rod monochromacy, achm, complete or incomplete color blindness, pingelapese blindness, rod monochromatism 2
Description
Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.
Most common symptoms of ACHROMATOPSIA
- Nystagmus
- Visual impairment
- Myopia
- Blindness
- Reduced visual acuity
More info about ACHROMATOPSIA
ACHROMATOPSIA 7; ACHM7
Description
Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by Kohl et al., 2015).For a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 (OMIM ).
Most common symptoms of ACHROMATOPSIA 7; ACHM7
- Nystagmus
- Blindness
- Reduced visual acuity
- Photophobia
- Astigmatism
More info about ACHROMATOPSIA 7; ACHM7
SOURCES: OMIM
CONE ROD DYSTROPHY
Alternate names
CONE ROD DYSTROPHY Is also known as human retinal gene 4, hrg4
Description
Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.
Most common symptoms of CONE ROD DYSTROPHY
- Visual impairment
- Photophobia
- Nyctalopia
- Retinal degeneration
- Abnormality of retinal pigmentation
More info about CONE ROD DYSTROPHY
Search interest in ATF6
Potential gene panels for ATF6 gene
Cone-Rod Dystrophy Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Cone-Rod Dystrophy Panel that also includes the following genes: RPGR CNNM4 SEMA4A TULP1 CFAP410 BEST1 RPGRIP1 CACNA1F CDHR1 RIMS1
More info about this panel United States.
Achromatopsia (ACHM) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Achromatopsia (ACHM) Sequencing Panel with CNV Detection that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panel United States.
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.
Achromatopsia Panel Panel
Germany.
By CeGaT GmbH Achromatopsia Panel that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panel Germany.
Single gene testing ATF6 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ATF6 gene.
More info about this panel Germany.
Achromatopsia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Achromatopsia that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
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.
Cone Rod Dystrophy panel Panel
United States.
By Molecular Vision Laboratory Cone Rod Dystrophy panel that also includes the following genes: RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CACNA1F CDHR1 RIMS1 RAX2 KCNV2
More info about this panel United States.
Achromatopsia panel Panel
United States.
By Molecular Vision Laboratory Achromatopsia panel that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panel United States.
ATF6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATF6 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.
Achromatopsia Panel Panel
Finland.
By Blueprint Genetics Achromatopsia Panel that also includes the following genes: RGS9 CNGA3 CNGB3 RGS9BP GNAT2 ATF6 PDE6C PDE6H
More info about this panel Finland.
ACHROMATOPSIA Panel
Spain.
By Laboratorio de Genetica Clinica SL ACHROMATOPSIA that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panel Spain.
ACHROMATOPSIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ACHROMATOPSIA NGS PANEL that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panel Spain.
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