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.

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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


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

ARL3 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ARL3 gene.

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

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

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

ARL3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ARL3 gene.

More info about this panel

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


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