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
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
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
Search interest in RCBTB1
Potential gene panels for RCBTB1 gene
RCBTB1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the RCBTB1 gene.
More info about this panelComprehensive Vitreoretinopathy Sequencing Panel with CNV Detection Panel
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 panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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 panelFamilial Exudative Vitreoretinopathy via RCBTB1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the RCBTB1 gene.
More info about this panelRCBTB1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RCBTB1 gene.
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