Fanconi Renotubular Syndrome 5 (FRTS5)

External Ids:

OMIM 56 618913

OMIM Phenotypic Series 56 PS134600

OMIM : ⁵⁶ 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). (618913)

MalaCards based summary : Fanconi Renotubular Syndrome 5, is also known as fanconi renotubular syndrome, acadian variant. An important gene associated with Fanconi Renotubular Syndrome 5 is NDUFAF6 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6). Affiliated tissues include kidney.

Clinical features from OMIM:

618913

Search Clinical Trials , NIH Clinical Center for Fanconi Renotubular Syndrome 5

Search GEO for disease gene expression data for Fanconi Renotubular Syndrome 5.