ARHGEF18
- Disease Category
- autosomal recessive
- Patient Population
- less than
- Clinical Trials
- None known
- Institution(s) Conducting Research
- None known
Where things stand · Treatment
Treatment options
None known
Where things stand · Clinical trials
Studies that may be relevant to review
Check current clinical trials for this gene — the Finder pulls live studies from ClinicalTrials.gov.
Find clinical trialsOpens the Clinical Trials Finder with this gene — you can change or remove it.Brief description
A clear, everyday-language overview of this gene.
ARHGEF18 (Rho/Rac Guanine Nucleotide Exchange Factor 18) is a Protein Coding gene. Diseases associated with ARHGEF18 include Retinitis Pigmentosa 78 and Retinitis Pigmentosa. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by Rho GTPases. ARHGEF18 is involved in the formation of tight junctions and barriers in epithelial cells. It also helps determine apicobasal polarity in epithelia. Mutations in ARHGEF18 are associated with retinitis pigmentosa and inherited retinal dystrophy (IRD). ARHGEF18 is expressed in several tissues, including lymphoid tissues. ARHGEF18 is localized to the cytosol and the plasma membrane.
Support, accessibility and family guidance(the same for every gene)
This guidance applies to anyone living with an inherited retinal condition, whichever gene is involved. Anything specific to this gene is in the section above.
- Ask before helping
- People differ widely in what assistance they want, and it changes by task and by day. Asking first respects that, and avoids help that gets in the way.
- Low-vision rehabilitation
- Low-vision specialists work on practical skills and tools for the sight someone has — lighting, contrast, magnification, orientation and mobility.
- Accessible technology
- Screen readers, magnification, high-contrast modes and voice control are built into phones and computers. Small settings changes often help sooner than new equipment.
- School and work
- Accommodations are often available well before vision loss is severe. Starting the conversation early usually makes it easier.
- Emotional and community support
- A genetic result affects the whole family. Connecting with others living with RP helps people feel less alone with it.
- Genetic counselling
- A genetic counsellor can explain what a result means for relatives, and what testing options exist, without anyone being pushed into a decision.
Medical disclaimer: This page is for education and navigation only — not medical advice, diagnosis, or treatment. These summaries are paraphrases of published research; always confirm details with a qualified clinician and primary sources.