Preferred Label : High molecular weight kininogen deficiency;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Hmwk deficiency; Kininogen deficiency, high molecular weight; Fitzgerald trait;
Included titles and symbols : Kininogen deficiency, total; Kininogen deficiency, high molecular weight and low molecular weight; Flaujeac trait; Williams trait;
Description : High molecular weight kininogen (HMWK) deficiency is an autosomal recessive coagulation
defect. It is known by a variety of names, including Fitzgerald trait, Flaujeac trait,
and Williams trait. Patients with HWMK deficiency do not have a hemorrhagic tendency,
but they exhibit abnormal surface-mediated activation of fibrinolysis. Fitzgerald
trait represents a 'true' deficiency of HMWK, whereas Flaujeac and Williams traits
represent total kininogen deficiency, in which both HMWK and low molecular weight
kininogen (LMWK) are deficient. HMWK and LMWK are both encoded by the KNG1 gene (612358)
(Bick, 2002; Takagaki et al., 1985).;
Inheritance : Autosomal recessive;
Prefixed ID : #228960;
Origin ID : 228960;
UMLS CUI : C0272340;
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)