Trait

Elevated serum anion gap

An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).

HPO HP:0031962

Body system: Laboratory abnormality

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6 genes linked to Elevated serum anion gap

Changes in these genes cause rare conditions in which Elevated serum anion gap 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.

Gene	How often it is seen	Conditions
MMAAmetabolism of cobalamin associated A	Always	In 1 condition
MRPL3mitochondrial ribosomal protein L3	Always	In 1 condition
PNPLA8patatin like domain 8, phospholipase A2	Always	In 1 condition
HMGCL3-hydroxy-3-methylglutaryl-CoA lyase	Very often (80–99%)	In 1 condition
ATP5F1DATP synthase F1 subunit delta	Often (30–79%)	In 1 condition
IVDisovaleryl-CoA dehydrogenase	Often (30–79%)	In 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 serum anion gap

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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