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Summary
HYPOURICEMIA, RENAL, 1 (RHUC1)
DALMATIAN HYPOURICEMIA
220150
OMIM = Online Medalian Inheritance of Men
94088
11q13.1
rare
autosomal recessive
mutation in the SLC22A12 gene
symptoms
no consistent clinical signs or symptoms
onset, adolescent
renal failure, acute/chronic
urolithiasis, kidney stones
laboratory finding
Uric acid +€mol/lserum
Literature
Vernon HJ,et al.Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblingsAm J Med Genet A16751147-11512015
Kartvelishvili E,et al.Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2Protein Sci2681505-15162017
Raviglione F,et al.Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsyAm J Med Genet A170113004-30072016
Yang Y,et al.A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic ParaplegiaHum Mutat372165-1692016