Details of Disease | DrugMAP

General Information of Disease (ID: DISWXLMY)

Disease Name	Congenital high-molecular-weight kininogen deficiency
Synonyms	Fitzgerald trait; kininogen deficiency, high molecular weight and LOW molecular weight, included; kininogen deficiency, high molecular weight and Low molecular weight; Williams trait; Flaujeac factor deficiency; Flaujeac trait, included; kininogen deficiency, total; high-molecular-weight kininogen deficiency, congenital; kininogen deficiency, high molecular weight; HMWK deficiency; Williams trait, included; Flaujeac trait; HMWK; Fitzgerald trait kininogen deficiency, total, included; kininogen deficiency; high molecular weight kininogen deficiency
Definition	A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.
Disease Hierarchy	DISEXNCF: Coagulation protein disease DIS1DL2M: Inherited blood coagulation disorder DIS27CUA: Bleeding disorder DISWXLMY: Congenital high-molecular-weight kininogen deficiency
Disease Identifiers	MONDO ID MONDO_0009234 MESH ID C537060 UMLS CUI C0272340 OMIM ID 228960 MedGen ID 75780 HPO ID HP:0005527 Orphanet ID 483 SNOMED CT ID 27312002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KLKB1	TTN0PCX	Strong	Biomarker	[1]
KNG1	TTDJ4MY	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CFAP97	OT0RSQO4	Strong	Biomarker	[3]
KNG1	OT4X9LDE	Definitive	Autosomal recessive	[2]
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References

1	Prekallikrein deficiency in a kindred with kininogen deficiency and Fitzgerald trait clotting defect. Evidence that high molecular weight kininogen and prekallikrein exist as a complex in normal human plasma.J Clin Invest. 1977 Sep;60(3):571-83. doi: 10.1172/JCI108809.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3	Prolonged activated partial thromboplastin time and deficiency of high molecular weight kininogen in brown Norway rat mutant (Katholiek strain).Thromb Res. 1984 Feb 15;33(4):371-7. doi: 10.1016/0049-3848(84)90076-8.