Details of Disease

General Information of Disease (ID: DISR1545)

Disease Name Prekallikrein deficiency
Synonyms prekallikrein deficiency
Definition
A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.
Disease Hierarchy
DIS9X3H6: Coagulation defect
DISR1545: Prekallikrein deficiency
Disease Identifiers
MONDO ID
MONDO_0044744
MESH ID
C562725
UMLS CUI
C0272339
OMIM ID
612423
MedGen ID
75779
SNOMED CT ID
48976006

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
RIPK4 TTB4S01 Limited Biomarker [1]
KNG1 TTDJ4MY moderate Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NBEAL1 OTLJ11N3 Strong Biomarker [3]
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References

1 PKK deletion in basal keratinocytes promotes tumorigenesis after chemical carcinogenesis.Carcinogenesis. 2018 Mar 8;39(3):418-428. doi: 10.1093/carcin/bgx120.
2 Participation of Hageman factor dependent pathways in human disease states.Thromb Haemost. 1977 Dec 15;38(4):751-75.
3 Characterization of a variant prekallikrein, prekallikrein Long Beach, from a family with mixed cross-reacting material-positive and cross-reacting material-negative prekallikrein deficiency.J Clin Invest. 1986 Jul;78(1):170-6. doi: 10.1172/JCI112547.