Rare diseases · Sign or symptom
Elevated circulating hepatic transaminase concentration
High liver enzymes
HP:0002910
What it means
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Rare diseases that can present with this183
Very common80–99%
27- Acute liver failure
- Ataxia-telangiectasia
- Autoimmune hepatitis
- Benign recurrent intrahepatic cholestasis
- Carnitine-acylcarnitine translocase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Chylomicron retention disease
- Cockayne syndrome type 1
- COG7-CDG
- Congenital bile acid synthesis defect type 1
- Congenital hyperinsulinism due to HNF4A deficiency
- DDOST-CDG
- Familial hemophagocytic lymphohistiocytosis
- Glycogen storage disease due to liver phosphorylase kinase deficiency
- Growth delay-intellectual disability-hepatopathy syndrome
- Hepatic veno-occlusive disease
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Infantile neurovisceral acid sphingomyelinase deficiency
- Joubert syndrome with hepatic defect
- Lujo hemorrhagic fever
- Lysosomal acid lipase deficiency
- Progeria-short stature-pigmented nevi syndrome
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- S-adenosylhomocysteine hydrolase deficiency
- Sialuria
- Systemic primary carnitine deficiency
- Wilson disease
Common30–79%
52- 3-hydroxy-3-methylglutaric aciduria
- Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- Acyl-CoA dehydrogenase 9 deficiency
- Adult-onset Still disease
- Aicardi-Goutières syndrome
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- ALG8-CDG
- Alpha-1-antitrypsin deficiency
- Alström syndrome
- Argininosuccinic aciduria
- Aseptic abscess syndrome
- B4GALT1-CDG
- Bardet-Biedl syndrome
- Barth syndrome
- Becker muscular dystrophy
- Boutonneuse fever
- Budd-Chiari syndrome
- Chronic graft versus host disease
- Chronic neurovisceral acid sphingomyelinase deficiency
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- Citrullinemia type II
- Classic galactosemia
- COG4-CDG
- Congenital bile acid synthesis defect type 2
- Danon disease
- Dermatomyositis
- Dilated cardiomyopathy with ataxia
- DK1-CDG
- DPAGT1-CDG
- DPM1-CDG
- DPM3-CDG
- Drug reaction with eosinophilia and systemic symptoms
- Fatal infantile lactic acidosis with methylmalonic aciduria
- Fetal cytomegalovirus syndrome
- Genetic recurrent myoglobinuria
- Glycogen storage disease due to glycogen branching enzyme deficiency
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- Glycogen storage disease due to liver glycogen phosphorylase deficiency
- Graft versus host disease
- Heme oxygenase-1 deficiency
- Hemophagocytic syndrome associated with an infection
- HJV or HAMP-related hemochromatosis
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Ileal neuroendocrine tumor
- Intrahepatic cholestasis of pregnancy
- Isolated biliary atresia
- Leishmaniasis
- Low phospholipid-associated cholelithiasis
- Lysinuric protein intolerance
- Methotrexate toxicity
- Mitochondrial neurogastrointestinal encephalomyopathy
- Monosomy X syndrome
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 1 disease 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: Abnormal liver enzymes · Abnormal liver function · Abnormal liver function tests · Elevated circulating hepatic transaminase activity · Elevated liver enzymes · Elevated liver function tests · Elevated serum transaminases · Elevated transaminases
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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.