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Summary
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 (MODY11)
MODY11
613375
OMIM = Online Medalian Inheritance of Men
552
8p23.1
very rare
autosomal dominant
mutation in the BLK nonreceptor tyrosine kinase gene
symptoms
diabetes mellitus
obesity
onset, adolescent
onset, childhood
laboratory finding
Literature
Stockler-Ipsiroglu S,van Karnebeek CDCerebral creatine deficiencies: a group of treatable intellectual developmental disordersSemin Neurol343350-3562014
Braissant OGAMT deficiency: 20 years of a treatable inborn error of metabolismMol Genet Metab11111-32014