ARL3 gene related symptoms and diseases
All the information presented here about the ARL3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ARL3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anteverted nares | Common - Between 50% and 80% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Blindness | Uncommon - Between 30% and 50% cases |
| Visual impairment | Uncommon - Between 30% and 50% cases |
| Cataract | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ARL3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Oculomotor apraxia
- Rod-cone dystrophy
- Highly arched eyebrow
- Nyctalopia
- Cerebellar vermis hypoplasia
- Nystagmus
- Global developmental delay
- Ptosis
And 69 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ARL3 gene
Here you will find a list of rare diseases related to the ARL3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
JOUBERT SYNDROME
Alternate names
JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv, joubert syndrome type a, classic joubert syndrome, pure joubert syndrome, cpd iv, joubert-boltshauser syndrome
Description
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Most common symptoms of JOUBERT SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Scoliosis
- Ataxia
More info about JOUBERT SYNDROME
SOURCES: ORPHANET
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
JOUBERT SYNDROME 35; JBTS35
Most common symptoms of JOUBERT SYNDROME 35; JBTS35
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Abnormal facial shape
- Ptosis
More info about JOUBERT SYNDROME 35; JBTS35
SOURCES: OMIM
RETINITIS PIGMENTOSA 83; RP83
Most common symptoms of RETINITIS PIGMENTOSA 83; RP83
- Cataract
- Edema
- Rod-cone dystrophy
- Reduced visual acuity
- Nyctalopia
More info about RETINITIS PIGMENTOSA 83; RP83
SOURCES: OMIM
Search interest in ARL3
Potential gene panels for ARL3 gene
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 United States.
ARL3 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ARL3 gene.
More info about this panel Germany.
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.
Retinitis pigmentosa, autosomal dominant and X-linked Panel Panel
Germany.
By CeGaT GmbH Retinitis pigmentosa, autosomal dominant and X-linked Panel that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A SPP2 BEST1
More info about this panel Germany.
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 United States.
ARL3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARL3 gene.
More info about this panel United States.
Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel that also includes the following genes: RHO ROM1 RP1 RP9 RPE65 SEMA4A SPP2 BEST1 CA4 PRPF31
More info about this panel Canada.
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