ARHGEF18 gene related symptoms and diseases
All the information presented here about the ARHGEF18 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ARHGEF18 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Rod-cone dystrophy | Uncommon - Between 30% and 50% cases |
| Hyperinsulinemia | Uncommon - Between 30% and 50% cases |
| Keratoconus | Uncommon - Between 30% and 50% cases |
| Atypical scarring of skin | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ARHGEF18 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormality of the testis
- Abnormality of the retinal vasculature
- Progressive night blindness
- Reduced visual acuity
- Abnormality of retinal pigmentation
- Pallor
- Nyctalopia
- Retinal degeneration
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ARHGEF18 gene
Here you will find a list of rare diseases related to the ARHGEF18. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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 PIGMENTOSA 78; RP78
Most common symptoms of RETINITIS PIGMENTOSA 78; RP78
- Rod-cone dystrophy
- Reduced visual acuity
- Pallor
- Nyctalopia
- Retinal degeneration
More info about RETINITIS PIGMENTOSA 78; RP78
SOURCES: OMIM
Search interest in ARHGEF18
Potential gene panels for ARHGEF18 gene
ARHGEF18 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ARHGEF18 gene.
More info about this panel Germany.
ARHGEF18 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARHGEF18 gene.
More info about this panel United States.
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 Finland.
Cone Rod Dystrophy Panel Panel
Finland.
By Blueprint Genetics Cone Rod Dystrophy Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1
More info about this panel Finland.
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 Finland.
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 Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DUT DCN CISD2 TUBB6