Rare diseases · Sign or symptom

Abnormal circulating neopterin concentration

HP:0040206

What it means

Any deviation from the normal concentration of neopterin in the blood circulation.

Neopterin can be found to have abnormal level in blood, CSF, or urine.

Rare diseases that can present with this2

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. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Abnormal circulating neopterin…

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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.