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Browse result for Legius syndrome

※ introduction

    Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. It was first described in 2007 and is often mistaken for neurofibromatosis type I. It is caused by mutations in the SPRED1 gene. It is also known as neurofibromatosis type 1-like syndrome.

Reference
Wiki: Legius syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD08879Q7Z69916174
SPRED1
Sprouty-related, EVH1 domain-containing protein 1
Homo sapiens