Proteus syndrome

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Proteus syndrome2016-12-03T07:55:48+00:00

Proteus syndrome

Proteus syndrome image from New Medical Terms

Proteus, Greek god, Old Man in the Sea

GENETICS

Definition An autosomal dominant (OMIM:176920) condition characterised by acral gigantism, plantar hyperplasia, hemangiomas, lipomas, varicosities, linear verrucae, nevi, macrocephaly, cranial hyperostosis, pachydermy, hypertrophy of long bones.

Proteus of Greek mythology tended Neptune’s flock of seals and had the gift of prophesy; to escape the constant badgering of those interested in the future, he often changed himself into other forms, ranging from wild animals to raging fire

Molecular pathology Defects of AKT1, which encodes a serine-threonine protein kinase that plays a key role in regulating cell survival, insulin signaling, angiogenesis, tumour formation and growth factor-induced neuronal survival, cause Proteus syndrome. 

Synonym Elattoproteus syndrome

References http://www.uniprot.org/uniprot/P31749

http://www.omim.org/entry/176920 

 

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