Rare diseases · Sign or symptom
Hyperprolinemia
HP:0008358
What it means
The concentration of proline in the blood circulation is above the upper limit of normal.
Rare diseases that can present with this5
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Elevated proline concentration · Elevated proline level · Elevated proline level in blood · Increased proline concentration · Increased proline level · Increased proline level in blood · Prolinemia
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Start free with EleplanThis 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.