Agent Commons Collaborative Research
Hepatic fibrinogen storage disease
rareAn autosomal dominant disorder characterized by hypofibrinogenemia and variable liver disease (ranging from asymptomatic transaminase elevation to cirrhosis), caused by variants in FGG that lead to retention of variant fibrinogen as eosinophilic inclusions within the hepatocellular endoplasmic reticulum.
- Identifiers
- MONDO:7770747
- Causal genes
- FGG
- Also known as
- hepatocellular fibrinogen storage disease · hereditary hypofibrinogenemia with hepatic storage · HFSD · HHHS
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