PCARE gene related symptoms and diseases
All the information presented here about the PCARE 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 PCARE gene
Symptoms // Phenotype | % Cases |
---|---|
Nystagmus | Very Common - Between 80% and 100% cases |
Abnormal electroretinogram | Very Common - Between 80% and 100% cases |
Visual impairment | Very Common - Between 80% and 100% cases |
Blindness | Very Common - Between 80% and 100% cases |
Abnormality of the retinal vasculature | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PCARE gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Conductive hearing impairment
- Anteverted nares
- Obesity
- Hypogonadism
- Glaucoma
- Photophobia
- Hypoplasia of penis
- Ophthalmoplegia
And 25 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PCARE gene
Here you will find a list of rare diseases related to the PCARE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RETINITIS PIGMENTOSA 54; RP54
Most common symptoms of RETINITIS PIGMENTOSA 54; RP54
- Nystagmus
- Visual impairment
- Blindness
- Rod-cone dystrophy
- Nyctalopia
More info about RETINITIS PIGMENTOSA 54; RP54
SOURCES: OMIM
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 PCARE
Potential gene panels for PCARE gene
MitoMet®Plus aCGH Analysis Panel
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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![](/img/flags/United-states.png)
C2orf71 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the PCARE gene.
More info about this panel![](/img/flags/United-states.png)
C2orf71 Deletion/Duplication Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the PCARE gene.
More info about this panel![](/img/flags/United-states.png)
C2orf71 Sequence Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the PCARE gene.
More info about this panel![](/img/flags/United-states.png)
C2orf71 Sequence Analysis (Prenatal Diagnosis) Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the PCARE gene.
More info about this panel![](/img/flags/United-states.png)
Retinitis Pigmentosa Panel Panel
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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 panel![](/img/flags/United-states.png)
PCARE Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PCARE gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication Panel
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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 panel![](/img/flags/United-states.png)
Retinitis pigmentosa 54 (sequence analysis of C2ORF71 gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the PCARE gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Retinitis pigmentosa (NGS panel for 72 genes) Panel
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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 panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes) Panel
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By CGC Genetics Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes) that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG SEMA4A TULP1 USH2A CLRN1 BEST1
More info about this panel![](/img/flags/United-states.png)
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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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 panel![](/img/flags/United-states.png)
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
C2orf71-Related Retinitis Pigmentosa Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the PCARE gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Retinitis pigmentosa type 54, autosomal recessive Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the PCARE gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Retinitis pigmentosa, autosomal recessive and X-linked Panel Panel
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By CeGaT GmbH Retinitis pigmentosa, autosomal recessive and X-linked Panel that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Cone Rod Dystrophies Panel Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Autosomal Recessive Retinitis Pigmentosa Panel
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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 panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Eye diseases comprehensive panel Panel
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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![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Retinal Dystrophy Panel Panel
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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![](/img/flags/United-states.png)
USHER syndrome panel Panel
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By Molecular Vision Laboratory USHER syndrome panel that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 ABHD12 USH1G WHRN ADGRV1 CEP250
More info about this panel![](/img/flags/United-states.png)
C2ORF71 single gene sequencing Panel
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By Molecular Vision Laboratory
This panel specifically test the PCARE gene.
More info about this panel![](/img/flags/United-states.png)
MVL Vision Panel Panel
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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![](/img/flags/United-states.png)
RETINITIS PIGMENTOSA A.R. Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases RETINITIS PIGMENTOSA A.R. that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TULP1 USH2A BEST1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
RETINITIS PIGMENTOSA Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Eye Disorders: Comprehensive Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel Panel
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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 panel![](/img/flags/United-states.png)
Ciliopathies: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41
More info about this panel![](/img/flags/United-states.png)
Retina/Photoreceptor Dystrophy: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Ciliopathies: Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A
More info about this panel![](/img/flags/United-states.png)
Eye Disorders: Deletion/Duplication Panel Panel
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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![](/img/flags/United-states.png)
Ciliopathies NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL
More info about this panel![](/img/flags/United-states.png)
Eye Disorders NGS Panel Panel
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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![](/img/flags/United-states.png)
Retinitis Pigmentosa NGS Panel Panel
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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 panel![](/img/flags/United-states.png)
C2orf71 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the PCARE gene.
More info about this panel![](/img/flags/United-states.png)
Retinal Dystrophy Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Retinitis Pigmentosa Panel Panel
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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 panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
RETINITIS PIGMENTOSA NGS PANEL Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes Panel
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By Reference Laboratory Genetics Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TULP1 USH2A BEST1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG TULP1 USH2A CLRN1 BEST1 ARL6
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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