Fanconi Renotubular Syndrome 5 (FRTS5)

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Disease Ontology 12 DOID:0080761 OMIM® 57 618913 OMIM Phenotypic Series 57 PS134600

MeSH 44 D005198 MedGen 41 C5394473 CN282533 SNOMED-CT via HPO 68 24184005 254626006 258211005 29738008 299330008 35912001 38341003 433146000 45154002 51615001 66266003 87433001 more

UniProtKB/Swiss-Prot : ⁷³ Fanconi renotubular syndrome 5: A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS5 is an autosomal recessive mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis.

MalaCards based summary : Fanconi Renotubular Syndrome 5, also known as fanconi renotubular syndrome, acadian variant, is related to mitochondrial metabolism disease and mitochondrial complex i deficiency, nuclear type 1. An important gene associated with Fanconi Renotubular Syndrome 5 is NDUFAF6 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6), and among its related pathways/superpathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include kidney and lung, and related phenotypes are hypertension and genu valgum

Disease Ontology : ¹² A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has material basis in homozygous mutation in the NDUFAF6 gene on chromosome 8q22.

OMIM® : ⁵⁷ 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) (Updated 05-Mar-2021)

Clinical features from OMIM®:

618913 (Updated 05-Mar-2021)

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

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