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.

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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


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

ARHGEF18 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ARHGEF18 gene.

More info about this panel

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

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

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

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


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