Living with RAB18 deficiency
A genetic condition, including Warburg micro and Martsolf syndromes, mainly affecting the eyes, brain, and reproductive system.
Understanding RAB18 deficiency
They are now seen as part of the same spectrum. Warburg micro syndrome is the more severe. It involves eye problems from birth, such as cataracts, small eyes, and small corneas, along with optic nerve damage. It also causes severe intellectual disability, delayed development, low muscle tone in infancy, and later muscle stiffness and joint tightness.
Signs & symptoms
GARD doesn't list a specific symptom list for this condition yet. The summary describes these features of Warburg micro syndrome:
- Clouding of the eye lens (cataracts)
- Small eyes and small corneas
- Optic nerve damage (optic atrophy)
- Severe intellectual disability
- Low muscle tone in infancy, then stiffness
- Joint tightness (contractures)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
RAB18 deficiency is caused by changes in the RAB18 gene, which Warburg micro syndrome and Martsolf syndrome share. GARD doesn't give the inheritance pattern here.
Also known as: rab18, member ras oncogene family deficiency; warburg micro spectrum
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with RAB18 deficiency.
Explore research for RAB18 deficiency
Explore actively recruiting RAB18 deficiency studies with HealthSpark.
Find actively recruiting studies for RAB18 deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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