RLBP1 gene related symptoms and diseases

All the information presented here about the RLBP1 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 RLBP1 gene

Symptoms // Phenotype % Cases
Blindness Common - Between 50% and 80% cases
Abnormal electroretinogram Uncommon - Between 30% and 50% cases
Nyctalopia Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Retinal dystrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with RLBP1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Abnormality of color vision
  • Cone/cone-rod dystrophy
  • Rod-cone dystrophy
  • Progressive night blindness
  • Abnormality of the retinal vasculature
  • Ophthalmoplegia
  • Abnormality of the testis
  • Atypical scarring of skin

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to RLBP1 gene

Here you will find a list of rare diseases related to the RLBP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BOTHNIA RETINAL DYSTROPHY


Alternate names

BOTHNIA RETINAL DYSTROPHY Is also known as vÄsterbotten dystrophy, vasterbotten dystrophy

Description

Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted.

Most common symptoms of BOTHNIA RETINAL DYSTROPHY

  • Blindness
  • Nyctalopia
  • Retinal dystrophy
  • Macular degeneration
  • Abnormal electroretinogram


More info about BOTHNIA RETINAL DYSTROPHY

SOURCES: ORPHANET OMIM MESH

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

RETINITIS PUNCTATA ALBESCENS



More info about RETINITIS PUNCTATA ALBESCENS

SOURCES: ORPHANET

FUNDUS ALBIPUNCTATUS


Description

Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.


More info about FUNDUS ALBIPUNCTATUS

SOURCES: ORPHANET

NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD


Most common symptoms of NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD

  • Visual impairment
  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Retinal dystrophy


More info about NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD

SOURCES: MESH OMIM


Potential gene panels for RLBP1 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

RLBP1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the RLBP1 gene.

More info about this panel

RLBP1 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the RLBP1 gene.

More info about this panel

RLBP1 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the RLBP1 gene.

More info about this panel

RLBP1 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the RLBP1 gene.

More info about this panel

Retinitis 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 panel

Retinitis 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 panel

RLBP1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the RLBP1 gene.

More info about this panel

Bothnia retinal dystrophy (sequence analysis of RLBP1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RLBP1 gene.

More info about this panel

Fundus Albipunctatus (sequence analysis of gene RLBP1) Panel

Portugal.

By CGC Genetics

This panel specifically test the RLBP1 gene.

More info about this panel

Retinitis 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 panel

Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes) Panel

Portugal.

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

RLBP1-Related Disorders via RLBP1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the RLBP1 gene.

More info about this panel

Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel

United States.

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

Retinitis 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 panel

Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 RPGRIP1 C1QTNF5 ELOVL4 RP1L1 CDH3

More info about this panel

Flecked Retina Disorder Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Flecked Retina Disorder Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 RS1 ELOVL4 CHM VPS13B EFEMP1 ABCA4 LRAT PLA2G5

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

Bothnia retinal dystrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RLBP1 gene.

More info about this panel

Retinitis pigmentosa, autosomal recessive and X-linked Panel Panel

Germany.

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

Flecked Retina Disorders Panel Panel

Germany.

By CeGaT GmbH Flecked Retina Disorders Panel that also includes the following genes: RLBP1 RS1 CHM VPS13B EFEMP1 PLA2G5 RDH5

More info about this panel

Single gene testing RLBP1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the RLBP1 gene.

More info about this panel

Autosomal 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 panel

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

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

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

Retinitis punctata albescens: RLBP1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the RLBP1 gene.

More info about this panel

RETINITIS PIGMENTOSA A.R. Panel

Spain.

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

RETINITIS 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 panel

Flecked-retina Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Flecked-retina Disorders: Sequencing Panel that also includes the following genes: RHO RLBP1 ABCA4 PLA2G5 RDH5 PRPH2

More info about this panel

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

Retinitis 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 panel

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

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

Flecked-retina Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Flecked-retina Disorders: Deletion/Duplication Panel that also includes the following genes: RHO RLBP1 ABCA4 PLA2G5 RDH5 PRPH2

More info about this panel

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

Macular Degeneration NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Macular Degeneration NGS Panel that also includes the following genes: RLBP1 RPGR CFB TLR4 C2 C3 ELOVL4 RAX2 HMCN1 CNGB3

More info about this panel

Retinitis 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 panel

RLBP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RLBP1 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

Flecked Retina Disorders Panel Panel

Finland.

By Blueprint Genetics Flecked Retina Disorders Panel that also includes the following genes: RHO RLBP1 RS1 ELOVL4 CHM VPS13B CYP4V2 ABCA4 PLA2G5 PROM1

More info about this panel

Macular Dystrophy Panel Panel

Finland.

By Blueprint Genetics Macular Dystrophy Panel that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 PRDM13 C1QTNF5 ELOVL4 RP1L1 CDH3

More info about this panel

Retinitis 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 panel

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

RETINITIS PUNCTATA ALBESCENS Panel

Spain.

By Laboratorio de Genetica Clinica SL RETINITIS PUNCTATA ALBESCENS that also includes the following genes: RHO RLBP1 RDH5 PRPH2

More info about this panel

RETINITIS 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 panel

Bothnia Retinal Dystrophy , Sequencing RLBP1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RLBP1 gene.

More info about this panel

Retinitis Punctata Albescens, Sequencing RLBP1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RLBP1 gene.

More info about this panel

Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes Panel

Spain.

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

Retinitis 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 panel

Fundus Albipunctatus, Panel Massive Sequencing (NGS) PRPH2, RDH5, RHO, RLBP1 Genes Panel

Spain.

By Reference Laboratory Genetics Fundus Albipunctatus, Panel Massive Sequencing (NGS) PRPH2, RDH5, RHO, RLBP1 Genes that also includes the following genes: RHO RLBP1 RDH5 PRPH2

More info about this panel

Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel Panel

Canada.

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


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