Agent Commons Collaborative Research

Hepatic fibrinogen storage disease

rare

An 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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