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GTR Home > Conditions/Phenotypes > Portal hypertension, noncirrhotic, 2

Portal hypertension, noncirrhotic, 2

Summary

Noncirrhotic portal hypertension-2 (NCPH2) is an autosomal recessive disorder characterized by signs of liver dysfunction that become apparent in the first decades of life. Affected individuals have jaundice, hyperbilirubinemia, pancytopenia, including neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly, and esophageal varices. Some patients may have recurrent infections or features suggestive of an immunodeficiency. Liver biopsy is notable for the absence of cirrhosis and the presence of nodular regeneration. Liver sinusoidal endothelial cells (LSECs) have abnormal expression of CD34 (142230) (summary by Drzewiecki et al., 2021). For a discussion of genetic heterogeneity of NCPH, see 617068. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HIMAP3, IAN-5, IAN4, IAN4L1, IAN5, IMAP3, IROD, NCPH2, GIMAP5
    Summary: GTPase, IMAP family member 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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