CABP4 gene related symptoms and diseases
All the information presented here about the CABP4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CABP4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Nystagmus | Very Common - Between 80% and 100% cases |
| Strabismus | Very Common - Between 80% and 100% cases |
| Blindness | Very Common - Between 80% and 100% cases |
| Reduced visual acuity | Very Common - Between 80% and 100% cases |
| Nyctalopia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CABP4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Congenital stationary night blindness
Not very common - Between 30% and 50% cases
- Moderate hypermetropia
- Moderate myopia
- Complete congenital stationary night blindness
- Photophobia
- Visual impairment
- Visual loss
- Abnormal fundus morphology
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CABP4 gene
Here you will find a list of rare diseases related to the CABP4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD
Alternate names
CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD Is also known as night blindness, congenital stationary, type 2b, formerly, csnb2b, formerly, night blindness, congenital stationary, incomplete, autosomal recessive, formerly
Description
Congenital nonprogressive cone-rod synaptic disorder is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses (Traboulsi, 2013; Khan, 2014).
Most common symptoms of CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD
- Nystagmus
- Strabismus
- Visual impairment
- Blindness
- Visual loss
More info about CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD
SOURCES: OMIM
Search interest in CABP4
Potential gene panels for CABP4 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 panel United States.
CABP4 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CABP4 gene.
More info about this panel United States.
CABP4 Familial Mutation/Variant Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CABP4 gene.
More info about this panel United States.
CABP4 Prenatal Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CABP4 gene.
More info about this panel United States.
CABP4 Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CABP4 gene.
More info about this panel United States.
CABP4 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CABP4 gene.
More info about this panel United States.
Leber Congential Amaurosis Panel (MitomeNGS) Panel
United States.
By Baylor Miraca Genetics Laboratories Leber Congential Amaurosis Panel (MitomeNGS) that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX
More info about this panel United States.
Congenital 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 panel United States.
Leber Congenital Amaurosis Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7 CRB1
More info about this panel United States.
CABP4 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the CABP4 gene.
More info about this panel Netherlands.
Night blindness, congenital stationary 2B, AR (sequence analysis of CABP4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CABP4 gene.
More info about this panel Portugal.
Cone-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 panel Portugal.
Cone-Rod Dystrophy via CABP4 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CABP4 gene.
More info about this panel United States.
Leber Congenital Amaurosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leber Congenital Amaurosis Sequencing Panel with CNV Detection that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 INPP5E CNGA3
More info about this panel United States.
Congenital 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 panel United States.
Cone-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 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.
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection that also includes the following genes: RHO RP1 RPE65 TULP1 USH2A RPGRIP1 CABP4 PRPF8 NMNAT1 CHM
More info about this panel United States.
Leber congenital amaurosis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Comprehensive panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
Leber congenital amaurosis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Deletion / Duplication panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
Leber congenital amaurosis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders NGS panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
Night blindness, congenital stationary type 2B Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CABP4 gene.
More info about this panel Germany.
Congenital 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 panel Germany.
Cone 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 panel Germany.
Single gene testing CABP4 Panel
Germany.
By CeGaT GmbH
This panel specifically test the CABP4 gene.
More info about this panel Germany.
Congenital 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 panel Estonia.
Cone-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 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.
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.
Congenital 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 panel United States.
Leber congenital amaurosis panel Panel
United States.
By Molecular Vision Laboratory Leber congenital amaurosis panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX
More info about this panel United States.
CABP4 single gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the CABP4 gene.
More info about this panel United States.
MVL 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 panel United States.
Cone 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 panel Spain.
Achromatopsia, 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 panel United States.
Eye 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 panel United States.
Congenital 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 panel United States.
Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel United States.
Retina/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 panel United States.
Achromatopsia, 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 panel United States.
Congenital 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 panel United States.
Eye 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 panel United States.
Eye 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 panel United States.
CABP4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CABP4 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.
Leber Congenital Amaurosis Panel Panel
Finland.
By Blueprint Genetics Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 CWC27 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CNGA3
More info about this panel Finland.
Cone 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 panel Finland.
Congenital 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 panel Finland.
NIGHT BLINDNESS, CONGENITAL STATIONARY (AUTOSOMAL RECESSIVE) Panel
Spain.
By Laboratorio de Genetica Clinica SL NIGHT BLINDNESS, CONGENITAL STATIONARY (AUTOSOMAL RECESSIVE) that also includes the following genes: GRK1 SAG SLC24A1 CABP4 GRM6 TRPM1
More info about this panel Spain.
LEBER CONGENITAL AMAUROSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL LEBER CONGENITAL AMAUROSIS NGS PANEL that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 PMPCA RD3 RDH12 SPATA7 CRB1
More info about this panel Spain.
NIGHT 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 panel Spain.
CONE-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 panel Spain.
Cone 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 panel Spain.
Congenital 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
More info about this panel Spain.
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