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Summary
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
MODY, TYPE 3
600496
OMIM = Online Medalian Inheritance of Men
552
12q24.31
rare
autosomal dominant
mutation in the hepatocyte nuclear factor-1-alpha gene
symptoms
diabetes mellitus
hyperglycemia
liver involvement or dysfunction
laboratory finding
Glucose increasedblood
Literature
Navarro-Sastre A,et al.Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patientsMol Genet Metab1070409-4152012
Coelho D,et al.Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolismNat Genet44101152-552012
Gungor O,et al.Congenital adrenal hyperplasia: a rare cause of renal failure and a successful renal transplantationClin Nephrol782145-1482012
J. C. Kim,et al.Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism12th International Congress of Human Genetics 2011 Montreal002011
Agrawal NK,Garg SCerebrotendinous xanthomatosis: a rare disorder with a rare presentationBMJ Case Rep002012