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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
Reference
Wiki: Wiskott-Aldrich syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01624 | P42768 | 7454 | WAS | Actin nucleation-promoting factor WAS | Homo sapiens |
| PTMD02711 | O43516 | 7456 | WIPF1 | WAS/WASL-interacting protein family member 1 | Homo sapiens |
