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high molecular weight kininogen deficiency
Summary
- Synonym
-
- Fitzgerald trait
- HMWK deficiency
- congenital high-molecular-weight kininogen deficiency
- Definition
- A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene.
- Super Class
- autosomal recessive disease blood coagulation disease
External Links
- Disease Ontology
- DOID:0111676
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
