Rare diseases · Sign or symptom
Elevated circulating alanine aminotransferase concentration
HP:0031964
What it means
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Alanine aminotransferase (ALT) is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells.
Rare diseases that can present with this12
Very common80–99%
3Common30–79%
5The 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
Also called: Alanine aminotransferase increased · Elevated serum alanine aminotransferase · Elevated serum ALT · Elevated serum glutamic-pyruvic transaminase
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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.