Portal hypertension, noncirrhotic

Noncirrhotic portal hypertension-1 (NCPH1) is an autosomal recessive disorder characterized by onset of portal hypertension associated with hepatosplenomegaly in the first or second decades of life, in the absence of cirrhosis, known extrahepatic diseases, or splanchnic venous thrombosis. Liver function is normal, and the disorder is relatively benign (Vilarinho et al., 2016). Genetic Heterogeneity of NCPH See also NCPH2 (619463), caused by mutation in the GIMAP5 gene (608086) on chromosome 7q36.

OMIM