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Trait

Elevated circulating alpha-fetoprotein concentration

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

HPO HP:0006254

Summary

Also called
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, Increased serum alpha-fetoprotein, Serum alpha-fetoprotein increased
Body system
Laboratory abnormality

27 genes linked to Elevated circulating alpha-fetoprotein concentration

Changes in these genes cause rare conditions in which Elevated circulating alpha-fetoprotein concentration is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
ATMATM serine/threonine kinaseAlwaysIn 1 condition
DGUOKdeoxyguanosine kinaseAlwaysIn 1 condition
EARS2glutamyl-tRNA synthetase 2, mitochondrialAlwaysIn 1 condition
MAD2L2mitotic arrest deficient 2 like 2AlwaysIn 1 condition
NR1H4nuclear receptor subfamily 1 group H member 4AlwaysIn 1 condition
PIK3R5phosphoinositide-3-kinase regulatory subunit 5AlwaysIn 2 conditions
PKD2polycystin 2, transient receptor potential cation channelAlwaysIn 1 condition
SETXsenataxinAlwaysIn 2 conditions
ZBTB20zinc finger and BTB domain containing 20AlwaysIn 1 condition
CTNNB1catenin beta 1Very often (80–99%)In 1 condition
METMET proto-oncogene, receptor tyrosine kinaseVery often (80–99%)In 1 condition
RNF168ring finger protein 168Very often (80–99%)In 1 condition
SLC25A13solute carrier family 25 member 13Very often (80–99%)In 1 condition
FOCADfocadhesinOften (30–79%)In 1 condition
KIF12kinesin family member 12Often (30–79%)In 1 condition
MPV17mitochondrial inner membrane protein MPV17Often (30–79%)In 1 condition
NGLY1N-glycanase 1Often (30–79%)In 1 condition
PEX6peroxisomal biogenesis factor 6Often (30–79%)In 1 condition
PNKPpolynucleotide kinase 3'-phosphataseOften (30–79%)In 1 condition
PIGNphosphatidylinositol glycan anchor biosynthesis class NSometimes (5–29%)In 1 condition
FLI1Fli-1 proto-oncogene, ETS transcription factorRarely (1–4%)In 1 condition
AFPalpha fetoproteinNot recordedIn 1 condition
BCL10BCL10 immune signaling adaptorNot recordedIn 1 condition
FAHfumarylacetoacetate hydrolaseNot recordedIn 1 condition
FGFR3fibroblast growth factor receptor 3Not recordedIn 1 condition
KITKIT proto-oncogene, receptor tyrosine kinaseNot recordedIn 1 condition
STK11serine/threonine kinase 11Not recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal circulating alpha-fetoprotein concentration

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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