|
PKK DEFICIENCY
MCID: PRK005
MIFTS: 28
|
Prekallikrein Deficiency (PKK DEFICIENCY)
Categories:
Blood diseases, Genetic diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Prekallikrein Deficiency:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
reported patients are asymptomatic HPO:31Classifications:
ICD10:
33
Orphanet: 58
Rare haematological diseases |
|
MedlinePlus Genetics :
43
Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein deficiency. The condition is usually discovered when blood tests are done for other reasons.A few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, a clot in the deep veins of the arms or legs (deep vein thrombosis), nosebleeds, or excessive bleeding after surgery. However, these are common problems in the general population, and most affected individuals have other risk factors for developing them, so it is unclear whether their occurrence is related to prekallikrein deficiency.
MalaCards based summary : Prekallikrein Deficiency, also known as fletcher factor deficiency, is related to prekallikrein deficiency, congenital and graves' disease. An important gene associated with Prekallikrein Deficiency is KLKB1 (Kallikrein B1), and among its related pathways/superpathways is Complement and coagulation cascades. Related phenotype is prolonged partial thromboplastin time. KEGG : 36 Fletcher factor deficiency, also called Prekallikrein deficiency, is an autosomal recessive heterozygous disorder of coagulation that is caused by defects in KLKB1. Although the patients had no abnormal bleeding tendency, their blood showed much prolonged activated partial thromboplastin time and delayed thromboplastin generation but normal prothrombin time. UniProtKB/Swiss-Prot : 73 Prekallikrein deficiency: This disorder is a blood coagulation defect. Wikipedia : 74 Prekallikrein (PK), also known as Fletcher factor, is an 85,000 Mr serine protease that complexes with... more...
More information from OMIM:
612423
|
Human phenotypes related to Prekallikrein Deficiency:31
|
|
|
Articles related to Prekallikrein Deficiency:(show top 50) (show all 96)
|
Genes related to Prekallikrein Deficiency (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Prekallikrein Deficiency:6
UniProtKB/Swiss-Prot genetic disease variations for Prekallikrein Deficiency:73
|
|
Search
GEO
for disease gene expression data for Prekallikrein Deficiency.
|
Pathways related to Prekallikrein Deficiency according to KEGG:36
|
|
|
|