CA4 gene related symptoms and diseases
All the information presented here about the CA4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CA4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Photophobia | Very Common - Between 80% and 100% cases |
| Rod-cone dystrophy | Uncommon - Between 30% and 50% cases |
| Obesity | Uncommon - Between 30% and 50% cases |
| Abnormality of the retinal vasculature | Uncommon - Between 30% and 50% cases |
| Abnormality of the testis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CA4 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Atypical scarring of skin
- Keratoconus
- Hyperinsulinemia
- Abnormal electroretinogram
- Abnormality of retinal pigmentation
- Type II diabetes mellitus
- Hypoplasia of penis
- Ophthalmoplegia
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
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Rare diseases associated to CA4 gene
Here you will find a list of rare diseases related to the CA4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RETINITIS PIGMENTOSA 17; RP17
Most common symptoms of RETINITIS PIGMENTOSA 17; RP17
- Rod-cone dystrophy
- Reduced visual acuity
- Photophobia
- Nyctalopia
- Abnormality of color vision
More info about RETINITIS PIGMENTOSA 17; RP17
RETINITIS PIGMENTOSA
Description
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Most common symptoms of RETINITIS PIGMENTOSA
- Intellectual disability
- Nystagmus
- Sensorineural hearing impairment
- Cataract
- Visual impairment
More info about RETINITIS PIGMENTOSA
SOURCES: ORPHANET
Search interest in CA4
Potential gene panels for CA4 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 panelCA4 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CA4 gene.
More info about this panelCA4 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CA4 gene.
More info about this panelCA4 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CA4 gene.
More info about this panelCA4 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CA4 gene.
More info about this panelRetinitis Pigmentosa Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panelCA4 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the CA4 gene.
More info about this panelRetinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panelRetinitis pigmentosa 17 (sequence analysis of CA4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CA4 gene.
More info about this panelRetinitis pigmentosa (NGS panel for 72 genes) Panel
Portugal.
By CGC Genetics Retinitis pigmentosa (NGS panel for 72 genes) that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panelRetinitis pigmentosa, AD and X-linked (NGS panel for 27 genes) Panel
Portugal.
By CGC Genetics Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes) that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A BEST1 CA4
More info about this panelAutosomal Dominant Retinitis Pigmentosa 17 (RP17) via CA4 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CA4 gene.
More info about this panelAutosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection that also includes the following genes: RHO ROM1 RP1 RPE65 SEMA4A BEST1 CA4 C1QTNF5 PRPF31 KLHL7
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 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 panelCA4-Related Retinitis Pigmentosa Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the CA4 gene.
More info about this panelRetinitis pigmentosa type 17, autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CA4 gene.
More info about this panelRetinitis pigmentosa, autosomal dominant and X-linked Panel Panel
Germany.
By CeGaT GmbH Retinitis pigmentosa, autosomal dominant and X-linked Panel that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A SPP2 BEST1
More info about this panelAutosomal Recessive Retinitis Pigmentosa Panel
Estonia.
By Asper Biogene Asper Biogene LLC Autosomal Recessive Retinitis Pigmentosa that also includes the following genes: RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG
More info about this panelAutosomal Dominant Retinitis Pigmentosa Panel
Estonia.
By Asper Biogene Asper Biogene LLC Autosomal Dominant Retinitis Pigmentosa that also includes the following genes: RHO ROM1 RP1 RP9 RPE65 SEMA4A BEST1 CA4 PRPF31 KLHL7
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 panelCA4 single gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the CA4 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 panelRetinitis pigmentosa Panel
Mexico.
By VECMD VECMD Retinitis pigmentosa that also includes the following genes: RPE65 TULP1 CA4 PRPF31 PRPF8 CRB1 BBIP1 IMPDH1
More info about this panelRETINITIS PIGMENTOSA A.D Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases RETINITIS PIGMENTOSA A.D that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A BEST1 CA4
More info about this panelRETINITIS PIGMENTOSA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases RETINITIS PIGMENTOSA that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panelGlaucoma (Advance) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2
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 panelRetinitis Pigmentosa: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
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 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 panelGlaucoma NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Glaucoma NGS Panel that also includes the following genes: RPS19 SLC4A4 TTR BEST1 CA4 ACVR1 OPTN RRM2B CANT1 SBF2
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 panelCA4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CA4 gene.
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 panelRetinitis Pigmentosa Panel Panel
Finland.
By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27
More info about this panelRETINITIS PIGMENTOSA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA NGS PANEL that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panelAutosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A BEST1 CA4
More info about this panelRetinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes Panel
Spain.
By Reference Laboratory Genetics Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panelNonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel that also includes the following genes: RHO ROM1 RP1 RP9 RPE65 SEMA4A SPP2 BEST1 CA4 PRPF31
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PIK3CA IRF2 ARHGAP24
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