Legius Syndrome (LGSS)

Alias:

Neurofibromatosis Type 1-Like Syndrome

Neurofibromatosis 1-Like Syndrome

Nf1-Like Syndrome

Lgss

Nfls

Neurofibromatosis, Type 1-Like Syndrome

Nonmosaic Legius Syndrome

Nonmosaic Lgss

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Legius Syndrome, also known as neurofibromatosis type 1-like syndrome, is related to noonan syndrome 1 and noonan syndrome with multiple lentigines. An important gene associated with Legius Syndrome is SPRED1 (Sprouty Related EVH1 Domain Containing 1), and among its related pathways/superpathways are Development EPO-induced Jak-STAT pathway and MAP Kinase Signaling. Affiliated tissues include skin and lung, and related phenotypes are multiple cafe-au-lait spots and specific learning disability

Related ID：

MALACARDS：LGS001

OMIM：611431

MESH：C548032