Rare diseases · Sign or symptom

Elevated intracellular cystine

HP:0003358

What it means

An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.

Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues to form a disulfide bond.

Part of the broader category

Elevated intracellular cystine

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.