Rare diseases · Sign or symptom
Elevated gamma-glutamyltransferase level
HP:0030948
What it means
Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.
Gamma-glutamyl transferase (GGT) is elevated with most liver diseases and with bile duct damage. Its main clinical use is in the evaluation of patients with isolated elevation in alkaline phosphatase (which can be of hepatic or bone origin). However, there are extrahepatic causes of GGT elevation including pancreatitis, prostate carcinoma, breast carcinoma, lung carcinoma, systemic lupus erythematosus, and congestive heart failure.
Rare diseases that can present with this15
Common30–79%
10- Alström syndrome
- Autosomal recessive polycystic kidney disease
- Caroli disease
- Gallbladder neuroendocrine tumor
- Isolated biliary atresia
- Low phospholipid-associated cholelithiasis
- Parenteral nutrition-associated cholestasis
- Primary biliary cholangitis
- Renal-hepatic-pancreatic dysplasia
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Sometimes5–29%
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 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: Elevated serum GGT
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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.