Rare diseases · Sign or symptom

Elevated circulating alpha-fetoprotein concentration

HP:0006254

What it means

The concentration of alpha-fetoprotein in the blood circulation is above the upper limit of normal.

An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalocele.

Rare diseases that can present with this9

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 3 diseases 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: Alpha fetoprotein abnormal · Elevated alpha-fetoprotein concentration · Elevated alpha-fetoprotein level · Elevated alpha-fetoprotein level in blood · Increased alpha-fetoprotein concentration · Increased alpha-fetoprotein level · Increased alpha-fetoprotein level in blood · Increased levels of alpha fetoprotein

Elevated circulating alpha-fetoprotein…

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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.