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Browse result for Wiskott-Aldrich syndrome

※ introduction

    Wiskott¨CAldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may present with similar but less severe symptoms and are caused by mutations of the same gene.

Reference
Wiki: Wiskott-Aldrich syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01624P427687454
WAS
Actin nucleation-promoting factor WAS
Homo sapiens
PTMD02711O435167456
WIPF1
WAS/WASL-interacting protein family member 1
Homo sapiens