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GTR Home > Conditions/Phenotypes > Pulmonary hypertension, primary, autosomal recessive

Pulmonary hypertension, primary, autosomal recessive

Summary

Primary pulmonary hypertension-5 (PPH5) is an autosomal recessive disorder characterized by the onset of pulmonary arterial hypertension in infancy, resulting in right heart dysfunction and ultimately right heart failure. Death in early childhood is common (Machado et al., 2022). For a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600). [from OMIM]

Available tests

2 tests are in the database for this condition.

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Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AFURS1, PPH5, ATP13A3
    Summary: ATPase 13A3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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