CACNA1F gene related symptoms and diseases
All the information presented here about the CACNA1F gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CACNA1F gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Nystagmus | Common - Between 50% and 80% cases |
| Myopia | Common - Between 50% and 80% cases |
| Reduced visual acuity | Common - Between 50% and 80% cases |
| Nyctalopia | Common - Between 50% and 80% cases |
| Congenital stationary night blindness | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with CACNA1F gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Visual impairment
- Blindness
- Abnormality of color vision
Not very common - Between 30% and 50% cases
- Photophobia
- High myopia
- Astigmatism
- Abnormal retinal morphology
- Hypermetropia
And 52 more phenotypes, you can get all of them using our tools for rare diseases.
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Rare diseases associated to CACNA1F gene
Here you will find a list of rare diseases related to the CACNA1F. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ÅLAND ISLANDS EYE DISEASE
Alternate names
ÅLAND ISLANDS EYE DISEASE Is also known as aied, forsius-eriksson type ocular albinism, forsius-eriksson syndrome
Description
Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.
Most common symptoms of ÅLAND ISLANDS EYE DISEASE
- Intellectual disability
- Short stature
- Nystagmus
- Myopia
- Blindness
More info about ÅLAND ISLANDS EYE DISEASE
CONGENITAL STATIONARY NIGHT BLINDNESS
Alternate names
CONGENITAL STATIONARY NIGHT BLINDNESS Is also known as hemeralopia-myopia, myopia-night blindness, night blindness, congenital stationary, with myopia, csnb, complete, x-linked, nbm1, congenital essential nyctalopia
Description
Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.
Most common symptoms of CONGENITAL STATIONARY NIGHT BLINDNESS
- Nystagmus
- Strabismus
- Myopia
- Blindness
- Reduced visual acuity
More info about CONGENITAL STATIONARY NIGHT BLINDNESS
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A
Alternate names
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A Is also known as csnb, incomplete, x-linked, night blindness, congenital stationary, type 2, csnb2
Most common symptoms of NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A
- Nystagmus
- Visual impairment
- Myopia
- Blindness
- Rod-cone dystrophy
More info about NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A
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
CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3
Description
Cone-rod dystrophy is a retinal disorder with predominantly cone involvement. Rod impairment may occur at the same time as the cone impairment or appear later. Patients with CORD usually have reduced visual acuity, photophobia, and color vision defects (summary by Huang et al., 2013).For a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see {304020}.
Most common symptoms of CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3
- Nystagmus
- Visual impairment
- Myopia
- Reduced visual acuity
- Photophobia
More info about CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3
Search interest in CACNA1F
Potential gene panels for CACNA1F gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelCone-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 panelCongenital Stationary Night Blindness Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Stationary Night Blindness Panel that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F LRIT3 GPR179 GNAT1 GNB3
More info about this panelCACNA1F Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the CACNA1F gene.
More info about this panelCACNA1F mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the CACNA1F gene.
More info about this panelAland Island eye disease (sequence analysis of CACNA1F gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CACNA1F gene.
More info about this panelCone-rod dystrophy (NGS panel of 36 genes) Panel
Portugal.
By CGC Genetics Cone-rod dystrophy (NGS panel of 36 genes) that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelNight blindness, congenital stationary (NGS panel of 13 genes) Panel
Portugal.
By CGC Genetics Night blindness, congenital stationary (NGS panel of 13 genes) that also includes the following genes: RHO GRK1 SAG SLC24A1 CACNA1F LRIT3 GPR179 GNAT1 GNB3 GRM6
More info about this panelNight blindness, congenital stationary (NGS panel of 13 genes) Panel
Portugal.
By CGC Genetics Night blindness, congenital stationary (NGS panel of 13 genes) that also includes the following genes: RHO GRK1 SAG SLC24A1 CACNA1F LRIT3 GPR179 GNAT1 GNB3 GRM6
More info about this panelCone-Rod Dystrophy (CORDX3) via CACNA1F Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CACNA1F gene.
More info about this panelRetinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR SAG SEMA4A TULP1
More info about this panelCongenital Stationary Night Blindness Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Stationary Night Blindness Sequencing Panel with CNV Detection that also includes the following genes: RHO GRK1 RPE65 SAG SLC24A1 CABP4 CACNA1F CHM CACNA2D4 LRIT3
More info about this panelCone-Rod Dystrophy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cone-Rod Dystrophy Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1
More info about this panelComprehensive 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 panelNight blindness, congenital stationary type 2A Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CACNA1F gene.
More info about this panelAland Island eye disease Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CACNA1F gene.
More info about this panelCone-rod dystrophy, X-linked type 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CACNA1F gene.
More info about this panelCongenital Stationary Night Blindness Panel Panel
Germany.
By CeGaT GmbH Congenital Stationary Night Blindness Panel that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1
More info about this panelCone Rod Dystrophies Panel Panel
Germany.
By CeGaT GmbH Cone Rod Dystrophies Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelSingle gene testing CACNA1F Panel
Germany.
By CeGaT GmbH
This panel specifically test the CACNA1F gene.
More info about this panelCongenital Stationary Night Blindness Panel
Estonia.
By Asper Biogene Asper Biogene LLC Congenital Stationary Night Blindness that also includes the following genes: RHO GRK1 SAG CABP4 CACNA1F GNAT1 GRM6 TRPM1 NYX PDE6B
More info about this panelCone-Rod Dystrophy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Cone-Rod Dystrophy that also includes the following genes: RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1 RAX2
More info about this panelEye 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 panelRetinal 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 panelCongenital Stationary Night Blindness panel Panel
United States.
By Molecular Vision Laboratory Congenital Stationary Night Blindness panel that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F LRIT3 GPR179 GNAT1 GRM6
More info about this panelCone 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 panelCACNA1F single gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the CACNA1F gene.
More info about this panelMVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelAutism Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Autism that also includes the following genes: RPL10 SLC25A12 SLC6A4 UBE3A CNTNAP2 FOXP2 CACNA1C CACNA1F CACNA1H PCDH19
More info about this panelCone rod dystrophy Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Cone rod dystrophy that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelAchromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelEye Disorders: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelCongenital Stationary Night Blindness: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Stationary Night Blindness: Sequencing Panel that also includes the following genes: RHO SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1 GRM6
More info about this panelRetina/Photoreceptor Dystrophy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelAchromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelCongenital Stationary Night Blindness: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Stationary Night Blindness: Deletion/Duplication Panel that also includes the following genes: RHO SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1 GRM6
More info about this panelEye Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelEye Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelCone-Rod Dystrophy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Cone-Rod Dystrophy NGS Panel that also includes the following genes: CNNM4 SEMA4A BEST1 RPGRIP1 CACNA1F CDHR1 RIMS1 RAX2 KCNV2 CACNA2D4
More info about this panelRetinitis Pigmentosa NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Retinitis Pigmentosa NGS Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panelCACNA1F Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CACNA1F gene.
More info about this panelX-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panelRetinal 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 panelCone 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 panelCongenital Stationary Night Blindness Panel Panel
Finland.
By Blueprint Genetics Congenital Stationary Night Blindness Panel that also includes the following genes: RHO GRK1 RLBP1 RPE65 SAG CABP4 CACNA1F CACNA2D4 CYP4V2 LRIT3
More info about this panelALAND ISLAND EYE DISEASE (FORSIUS-ERIKSSON SYNDROME; OA2) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CACNA1F gene.
More info about this panelNIGHT BLINDNESS, CONGENITAL STATIONARY (X-LINKED) Panel
Spain.
By Laboratorio de Genetica Clinica SL NIGHT BLINDNESS, CONGENITAL STATIONARY (X-LINKED) that also includes the following genes: CACNA1F NYX
More info about this panelCONE-ROD DYSTROPHY (X-LINKED) Panel
Spain.
By Laboratorio de Genetica Clinica SL CONE-ROD DYSTROPHY (X-LINKED) that also includes the following genes: RPGR CACNA1F MICOS10
More info about this panelNIGHT BLINDNESS, CONGENITAL STATIONARY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL NIGHT BLINDNESS, CONGENITAL STATIONARY NGS PANEL that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1
More info about this panelCONE-ROD DYSTROPHY Panel
Spain.
By Laboratorio de Genetica Clinica SL CONE-ROD DYSTROPHY that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelX-Linked Cone-Rod Distrophy Type 3, Sequencing CACNA1F Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CACNA1F gene.
More info about this panelCone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes Panel
Spain.
By Reference Laboratory Genetics Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelCongenital Stationary Night Blindness , Panel Massive Sequencing (NGS) 13 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Stationary Night Blindness , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F GPR179 GNAT1 GRM6 TRPM1
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