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GTR Home > Conditions/Phenotypes > Fibrosis, neurodegeneration, and cerebral angiomatosis

Fibrosis, neurodegeneration, and cerebral angiomatosis

Summary

Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) is characterized by severe progressive cerebropulmonary symptoms, resulting in death in infancy from respiratory failure. Features include malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia, and transient liver dysfunction. Neuropathology shows increased angiomatosis-like leptomeningeal, cortical, and superficial white matter vascularization and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and granuloma-like lesions are seen in the lungs, and there is hepatomegaly with steatosis and collagen accumulation (Uusimaa et al., 2018). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: FINCA, NHLRC2
    Summary: NHL repeat containing 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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