Just diagnosed with Cystinuria?
You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Cystinuria, look for clinical trials, and connect with others living with it — all in one place.
Open the full interactive Cystinuria hub →Overview
Cystinuria is a rare condition. Also known as Cystinuria-lysinuria syndrome. Tomeko brings together the specialists, research, clinical trials, treatments and community for Cystinuria so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:214 · OMIM 220100 · ICD-10 E72.0 · GARD 0006237
Find care for Cystinuria
Authoritative references for Cystinuria
Research & market landscape for Cystinuria
Following Cystinuria for research or industry? Tomeko brings together the recruiting trials, the latest literature, patient organizations, and the specialist and care-center footprint for Cystinuria — the real-world landscape behind the condition, in one place.
- Latest Cystinuria research on PubMed ↗
- Recruiting Cystinuria trials on ClinicalTrials.gov ↗
- Explore the Cystinuria research & specialist footprint on Tomeko
Researchers, patient organizations & industry: Tomeko provides de-identified, no-PHI demand and engagement signal, trial awareness, and a labeled, editorially-firewalled presence for Cystinuria and every rare condition. See how Tomeko works with industry →
Common questions
What is Cystinuria?
Cystinuria is a rare condition. Also known as Cystinuria-lysinuria syndrome. For an authoritative medical description see the reference sources on this page; Tomeko brings the specialists, clinical trials, patient organizations and community for Cystinuria together in one place.
What are the symptoms of Cystinuria?
Symptoms of Cystinuria vary from person to person. For a reviewed, plain-language overview see the authoritative references below (NIH GARD, Orphanet), and discuss your own symptoms with a clinician who treats Cystinuria.
How is Cystinuria treated?
Treatment for Cystinuria depends on the individual and is managed by specialists. Use Tomeko to find clinicians and Centers of Excellence who see Cystinuria, and review current options with them.
What causes Cystinuria — is it genetic?
The cause and inheritance of Cystinuria are described in the authoritative references linked on this page. A genetics or specialist clinician who treats Cystinuria can explain what it means for you and your family.
I was just diagnosed with Cystinuria — what should I do first?
Start by learning the basics from an authoritative source, find a specialist or center that sees Cystinuria, and connect with a patient organization. Tomeko brings these together on one hub.
Where can I find a specialist for Cystinuria?
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Cystinuria, filtered to your area.
Are there clinical trials for Cystinuria?
Tomeko shows live, recruiting studies for Cystinuria from ClinicalTrials.gov on the hub.
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- 3-Hydroxyisobutyric aciduria
- 3-hydroxyisobutyryl-CoA hydrolase deficiency
- 3-methylglutaconic aciduria type 1
- 3-Methylglutaconic aciduria type 2
- 3-Methylglutaconic aciduria type 3