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GTR Home > Conditions/Phenotypes > Fibromuscular dysplasia, multifocal

Fibromuscular dysplasia, multifocal

Summary

Multifocal fibromuscular dysplasia (FMDMF) is characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Arterial tortuosity, macroaneurysms, dissections, and rupture may occur (summary by Richer et al., 2020). [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EDSC, EDSCL1, FMDMF, COL5A1
    Summary: collagen type V alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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