RCBTB1 gene related symptoms and diseases

All the information presented here about the RCBTB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RCBTB1 gene

Symptoms // Phenotype % Cases
Reduced visual acuity Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Nyctalopia Uncommon - Between 30% and 50% cases
Pigmentary retinopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with RCBTB1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormal electrooculogram
  • Asthenopia
  • Intellectual disability
  • Sensorineural hearing impairment
  • Exudative retinopathy
  • Rod-cone dystrophy
  • Retinal dystrophy
  • Amenorrhea

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RCBTB1 gene

Here you will find a list of rare diseases related to the RCBTB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COATS DISEASE

Alternate names

COATS DISEASE Is also known as retinal telangiectasis, congenital retinal telangiectasia, leber miliary aneurysm

Description

Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.

Most common symptoms of COATS DISEASE

  • Strabismus
  • Cataract
  • Edema
  • Visual loss
  • Glaucoma


More info about COATS DISEASE

SOURCES: ORPHANET OMIM MESH

RETICULAR DYSTROPHY OF THE RETINAL PIGMENT EPITHELIUM

Description

Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium (see this term), of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.

Most common symptoms of RETICULAR DYSTROPHY OF THE RETINAL PIGMENT EPITHELIUM

  • Reduced visual acuity
  • Nyctalopia
  • Pigmentary retinopathy
  • Abnormal electrooculogram
  • Asthenopia


More info about RETICULAR DYSTROPHY OF THE RETINAL PIGMENT EPITHELIUM

SOURCES: MESH ORPHANET OMIM

RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA

Most common symptoms of RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Rod-cone dystrophy
  • Reduced visual acuity


More info about RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA

SOURCES: OMIM


Potential gene panels for RCBTB1 gene

RCBTB1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the RCBTB1 gene.

More info about this panel
Germany.

Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection that also includes the following genes: ATOH7 CAPN5 RCBTB1 ATP6V0A2 ZNF408 TSPAN12 VCAN CTNNB1 ISPD FZD4

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.

Familial Exudative Vitreoretinopathy via RCBTB1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the RCBTB1 gene.

More info about this panel
United States.

RCBTB1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RCBTB1 gene.

More info about this panel
United States.

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