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Browse result for LEOPARD syndrome

※ introduction

    Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, is a rare autosomal dominant, multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, which may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known; however, research is ongoing. It is a RASopathy. Noonan syndrome with multiple lentigines is caused by a different missense mutation of the same gene. Noonan syndrome is fairly common (1:1,000 to 1:2,500 live births), and neurofibromatosis 1 (which was once thought to be related to NSML) is also common (1:3500); however, no epidemiological data exists for NSML.

Reference
Wiki: LEOPARD syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00305P040495894
RAF1
RAF proto-oncogene serine/threonine-protein kinase
Homo sapiens
PTMD00541P15056673
BRAF
Serine/threonine-protein kinase B-raf
Homo sapiens
PTMD00660Q061245781
PTPN11
Tyrosine-protein phosphatase non-receptor type 11
Homo sapiens