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About this condition

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

This is information, not medical advice. A doctor or genetic counsellor is the right person for decisions.

What this means, in plain words

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is a rare condition linked to the COL4A1 gene.

No two people with this condition are the same, and not everything on this page will apply to everyone.

You are not alone

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People you can contact

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Things you can do this week

Questions to bring to your doctor

  1. Has a gene change been found, and is it the kind usually seen in autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome?
  2. Is there a treatment for this condition, or a study we could join?
  3. Should we see a genetic counsellor about what this means for the rest of the family?

Studies looking for participants

The detailed view: how it works in the body, related diseases and research ideas.