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
Very common80–99%
3Common30–79%
2Sometimes5–29%
3The 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
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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.