Congenital high-molecular-weight kininogen deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: FLAUJEAC TRAIT, INCLUDED
FITZGERALD TRAIT KININOGEN DEFICIENCY, TOTAL, INCLUDED
WILLIAMS TRAIT, INCLUDED
HMWK DEFICIENCY
KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT
KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT AND LOW MOLECULAR WEIGHT, INCLUDED
Number of Symptoms 7
OrphanetNr: 483
OMIM Id: 228960
ICD-10: D68.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hemorrhagic disorder due to a constitutional coagulation factors defect
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0005527) Reduced kininogen activity 1 / 7739
2
(HPO:0003645) Prolonged partial thromboplastin time 20 / 7739
3
(OMIM) Total kininogen deficiency 1 / 7739
4
(OMIM) High molecular weight kininogen deficiency 1 / 7739
5
(OMIM) Procoagulant deficiency 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Flaujeac factor deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Lacombe et al. (1975) described deficiency of a procoagulant they called Flaujeac factor, which, like Hageman (F12; 610619) and Fletcher (KLKB1; 229000) factors, participated in the 'contact phase' of coagulation. The deficiency was observed in an asymptomatic French ...
Molecular genetics OMIM Cheung et al. (1993) demonstrated that Ms. Williams, the patient with total kininogen deficiency reported as Williams trait by Colman et al. (1975), was homozygous for a nonsense mutation in the KNG1 gene (612358.0001).

Krijanovski et ...