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Summary
HYPOURICEMIA, RENAL, 2 (RHUC2)
612076
OMIM = Online Medalian Inheritance of Men
91088
4p16.1
rare
autosomal dominant
autosomal recessive
mutation in the SLC2A9 gene
symptoms
no consistent clinical signs or symptoms
onset, adolescent
renal failure, acute/chronic
urolithiasis, kidney stones
laboratory finding
Uric acid +€mol/lserum
Uric acid mmol/mol creatinineurine
Literature
Tucker EJ,et al.Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translationCell Metab143428-4342011
Neeve VC,et al.Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTMitochondrion136743-7462013
Haack TB,et al.Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningMol Genet Metab1113342-3522014
La Piana R,et al.Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotypeNeurogenetics18297-1032017
Yang Y,et al.A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic ParaplegiaHum Mutat372165-1692016