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Summary
MITCHELL-RILEY SYNDROME (MTCHRS)
DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA RFX6
615710
OMIM = Online Medalian Inheritance of Men
293864
6q22.1
very rare
autosomal recessive
mutation in the RFX6 gene
symptoms
cholestasis
diabetes mellitus
diarrhea
gallbladder abnormalities
hyperglycemia
intestinal atresia
intestinal malabsorption
intrauterine growth retardation
onset, infancy
onset, neonatal
laboratory finding
D-Glucose mmol/lserum
Bilirubin +€mol/lserum
Insulin mU/lserum
Literature
Maruyama Ket al.Arts syndrome with a novel missense mutation in the PRPS1 gene: A case reportBrain Dev3810954-9582016
Park J,et al.Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic AtrophyJ Clin Neurol94283-2882013
Perrin L,et al.A new lysosomal storage disorder resembling Morquio syndrome in sibsEur J Med Genet553157-1622012
de Brouwer APet al.Arts syndrome is caused by loss-of-function mutations in PRPS1Am J Hum Genet813507-5182007
Perrin L,et al.A new lysosomal storage disorder resembling Morquio syndrome in sibsEur J Med Genet553157-1622012