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Inherited prekallikrein deficiency

MedGen UID:
987194
•Concept ID:
CN305372
•
Disease or Syndrome
Synonyms: congenital prekallikrein deficiency; Congenital prekallikrein deficiency; fletcher factor (prekallikrein) deficiency; Fletcher Factor deficiency; hereditary prekallikrein deficiency; inherited prekallikrein deficiency; PKK deficiency; prekallikrein deficiency; prekallikrein deficiency, congenital
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): KLKB1 (4q35.2)
 
Monarch Initiative: MONDO:0012901
OMIM®: 612423
Orphanet: ORPHA749

Definition

Prekallikrein deficiency (PKKD) is a rare asymptomatic clotting defect characterized by prolongation of activated partial thromboplastin time (summary by Saito et al., 1981). [from OMIM]

Clinical features

From HPO
Prolonged partial thromboplastin time
MedGen UID:
66815
•Concept ID:
C0240671
•
Finding
Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.
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Abnormal bleeding
MedGen UID:
264316
•Concept ID:
C1458140
•
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
See: Feature record | Search on this feature
Reduced circulating prekallikrein concentration
MedGen UID:
1815101
•Concept ID:
C5706195
•
Finding
Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Thrombotic events in patients with congenital prekallikrein deficiency: a critical evaluation of all reported cases.
Girolami A, Allemand E, Bertozzi I, Candeo N, Marun S, Girolami B
Acta Haematol 2010;123(4):210-4. Epub 2010 Apr 27 doi: 10.1159/000313361. PMID: 20424433

Diagnosis

A Rare Cause of Isolated Prolonged Activated Partial Thromboplastin Time: An Overview of Prekallikrein Deficiency and the Contact System.
Riano I, Prasongdee K
J Investig Med High Impact Case Rep 2021 Jan-Dec;9:23247096211012187. doi: 10.1177/23247096211012187. PMID: 33940978Free PMC Article
Prekallikrein deficiency.
Quail MT
J Pediatr Oncol Nurs 2013 Jul-Aug;30(4):198-204. Epub 2013 Apr 29 doi: 10.1177/1043454213487436. PMID: 23629422

Prognosis

A Rare Cause of Isolated Prolonged Activated Partial Thromboplastin Time: An Overview of Prekallikrein Deficiency and the Contact System.
Riano I, Prasongdee K
J Investig Med High Impact Case Rep 2021 Jan-Dec;9:23247096211012187. doi: 10.1177/23247096211012187. PMID: 33940978Free PMC Article

Clinical prediction guides

Severe Fletcher factor (plasma prekallikrein) deficiency with partial deficiency of Hageman factor (factor XII): report of a case with observation on in vivo and in vitro leukocyte chemotaxis.
Poon MC, Moore MR, Castleberry RP, Lurie A, Huang ST, Lehmeyer J
Am J Hematol 1982 May;12(3):261-70. doi: 10.1002/ajh.2830120308. PMID: 6919394

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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