megalencephaly—polymicrogyria—polydactyly-hydrocephalus syndrome

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megalencephaly—polymicrogyria—polydactyly-hydrocephalus syndrome2016-12-03T07:35:45+00:00

megalencephaly—polymicrogyria—polydactyly-hydrocephalus syndrome

GENETICS, NEUROLOGY

Definition An autosomal dominant disorder (OMIM:603387) characterised by megalencephaly, hydrocephalus, and polymicrogyria and variably present polydactyly

Differential diagnosis Megalencephaly-capillary malformation syndrome

Molecular pathology Defects of

AKT3, which encodes protein kinase B, an AKT serine-threonine protein kinase,

PIK3CA, which encodes the catalytic subunit of PI3-kinase, which uses ATP to phosphorylate phosphatidylinositol, phosphatidylinositol4P and phosphatidylinositol(4,5)P2, and

PIK3R2, which encodes a regulatory subunit of PI3-kinase, that acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane, all cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Synonyms Megalencephaly—polymicrogyria—mega corpus callosum syndrome, MEG-PMG-MEGACC syndrome, megalencephaly—mega corpus callosum—and complete lack of motor development

References http://www.uniprot.org/uniprot/Q9Y243

http://www.omim.org/entry/603387

 

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