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.

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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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET OMIM


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

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

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

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

Single gene testing ATF6 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ATF6 gene.

More info about this panel

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

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

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

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

ATF6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATF6 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

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

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

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


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