Wiskott-Aldrich syndrome

Summary
Synonym
  • Wiskott syndrome
Definition
A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia).
Super Class
X-linked recessive disease syndrome
External Links
Disease Ontology
DOID:9169
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
2208 FCER2 Fc epsilon receptor II
2523 FUT1 fucosyltransferase 1 (H blood group)
2539 G6PD glucose-6-phosphate dehydrogenase
5230 PGK1 phosphoglycerate kinase 1
5311 PKD2 polycystin 2, transient receptor potential cation channel
92579 G6PC3 glucose-6-phosphatase catalytic subunit 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024