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Summary
MAURIAC SYNDROME
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OMIM = Online Medalian Inheritance of Men
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Detail information to gene locus by the National Center for Biotechnology Information NCBI:
Mauriac syndrome, first described in 1930, is typically diagnosed in young patients with poorly controlled type 1 diabetes mellitus and growth retardation, delayed puberty, Cushingoid features, hypercholesterolaemia and hepatomegaly [Pinto MJF 2018]
symptoms
diabetes mellitus
growth retardation, poor growth
hepatomegaly (large liver)
lactic acidosis
onset, childhood
puberty, delayed or missing
laboratory finding
L-Lactic acid mmol/lblood
Transaminases U/lserum
Cholesterol mmol/lserum
Literature
Verhave JC,et al.Hepatocyte Nuclear Factor 1+¦-Associated Kidney Disease: More than Renal Cysts and DiabetesJ Am Soc Nephrol272345-3532016
Hamilton AJ,et al.The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a +¦ cell phenotypeJ Med Genet513165-1692014