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GTR Home > Conditions/Phenotypes > Fanconi renotubular syndrome 5

Fanconi renotubular syndrome 5

Synonyms
FANCONI RENOTUBULAR SYNDROME, ACADIAN VARIANT

Summary

Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent (Crocker et al., 1997 and Hartmannova et al., 2016). For a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600). [from OMIM]

Available tests

14 tests are in the database for this condition.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C8orf38, FRTS5, MC1DN17, lncREST, NDUFAF6
    Summary: NADH:ubiquinone oxidoreductase complex assembly factor 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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