ORPHA:214
Cystinuria
Also called Cystinuria-lysinuria syndrome
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive, Semi-dominant
- Typical age of onset
- All ages
- Estimated prevalence
- 1-5 / 10 000 (United Kingdom)
- Rarity class
- 1-5 / 10 000
ORPHA:214 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Nephrolithiasis
- Hematuria
- Cystinuria
- Abnormality of amino acid metabolism
- Renal insufficiency
- Hypertension