PKK DEFICIENCY
MCID: PRK005
MIFTS: 30

Prekallikrein Deficiency (PKK DEFICIENCY)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Prekallikrein Deficiency

MalaCards integrated aliases for Prekallikrein Deficiency:

Name: Prekallikrein Deficiency 56 25 73 29 6 39 71
Fletcher Factor Deficiency 56 25 73 36 13
Pkk Deficiency 56 25 73
Congenital Prekallikrein Deficiency 25 58
Fletcher Factor Deficiency 56
Fletcher Trait 25

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
reported patients are asymptomatic


HPO:

31
prekallikrein deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM 56 612423
KEGG 36 H01078
ICD10 via Orphanet 33 D68.8
UMLS via Orphanet 72 C0272339
Orphanet 58 ORPHA749
MedGen 41 C0272339
SNOMED-CT via HPO 68 258211005 409675001
UMLS 71 C0272339

Summaries for Prekallikrein Deficiency

Genetics Home Reference : 25 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 factor xii deficiency. An important gene associated with Prekallikrein Deficiency is KLKB1 (Kallikrein B1), and among its related pathways/superpathways is Complement and coagulation cascades. Affiliated tissues include testes and heart, and 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

Related Diseases for Prekallikrein Deficiency

Diseases related to Prekallikrein Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 prekallikrein deficiency, congenital 12.3
2 factor xii deficiency 10.3
3 thrombophilia due to thrombin defect 10.2
4 autoimmune disease 10.2
5 systemic lupus erythematosus 10.2
6 purpura 10.1
7 stroke, ischemic 10.1
8 cerebrovascular disease 10.1
9 rapidly involuting congenital hemangioma 10.1
10 fibrinolytic defect 10.0
11 factor x deficiency 10.0
12 myocardial infarction 10.0
13 factor xi deficiency 10.0
14 alkuraya-kucinskas syndrome 10.0
15 typhoid fever 10.0
16 hereditary angioedema 10.0
17 angioedema 10.0
18 horseshoe kidney 10.0
19 congenital amyoplasia 10.0
20 hypertension, essential 10.0
21 leukemia, chronic lymphocytic 10.0
22 thrombocytopenic purpura, autoimmune 10.0
23 high molecular weight kininogen deficiency 10.0
24 bernard-soulier syndrome 10.0
25 myelofibrosis 10.0
26 deficiency anemia 10.0
27 autosomal recessive disease 10.0
28 lymphocytic leukemia 10.0
29 tetanus 10.0
30 diphtheria 10.0
31 iron deficiency anemia 10.0
32 graves' disease 10.0
33 diarrhea 10.0
34 iron metabolism disease 10.0
35 transitional cell carcinoma 10.0
36 carotid artery thrombosis 10.0
37 intracranial thrombosis 10.0
38 peptic ulcer disease 10.0
39 hyperthyroidism 10.0
40 hemarthrosis 10.0
41 carotid artery occlusion 10.0
42 vasculitis 10.0
43 lupus erythematosus 10.0
44 pulmonary embolism 10.0
45 hemophilia 10.0

Graphical network of the top 20 diseases related to Prekallikrein Deficiency:



Diseases related to Prekallikrein Deficiency

Symptoms & Phenotypes for Prekallikrein Deficiency

Human phenotypes related to Prekallikrein Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 prolonged partial thromboplastin time 31 HP:0003645

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
prolonged activated partial thromboplastin time (aptt)
prekallikrein deficiency

Clinical features from OMIM:

612423

Drugs & Therapeutics for Prekallikrein Deficiency

Search Clinical Trials , NIH Clinical Center for Prekallikrein Deficiency

Genetic Tests for Prekallikrein Deficiency

Genetic tests related to Prekallikrein Deficiency:

# Genetic test Affiliating Genes
1 Prekallikrein Deficiency 29 KLKB1

Anatomical Context for Prekallikrein Deficiency

MalaCards organs/tissues related to Prekallikrein Deficiency:

40
Testes, Heart

Publications for Prekallikrein Deficiency

Articles related to Prekallikrein Deficiency:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation. 6 56 61
15461630 2004
2
A new type of plasma prekallikrein deficiency associated with homozygosity for Gly104Arg and Asn124Ser in apple domain 2 of the heavy-chain region. 6 61
17598838 2007
3
Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr). 6 61
14652634 2003
4
Fletcher factor deficiency in a 9-year-old girl: mechanisms of the contact pathway of blood coagulation. 56 61
7717377 1995
5
Characterization of a variant prekallikrein, prekallikrein Long Beach, from a family with mixed cross-reacting material-positive and cross-reacting material-negative prekallikrein deficiency. 61 56
3487556 1986
6
Prekallikrein (Fletcher factor) deficiency. 61 56
3849948 1985
7
CRM+ severe Fletcher factor deficiency associated with Graves' disease. 56 61
6568197 1984
8
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. 61 56
6919394 1982
9
HLA typing in a new family with Fletcher factor deficiency. 56 61
6918357 1982
10
Heterogeneity of human prekallikrein deficiency (Fletcher trait): evidence that five of 18 cases are positive for cross-reacting material. 61 56
6792540 1981
11
Fletcher factor deficiency: report of a new family. 56 61
694428 1978
12
Clinical and physiologic studies of two siblings with prekallikrein (Fletcher factor) deficiency. 61 56
1020754 1976
13
Fletcher factor deficiency. A diminished rate of Hageman factor activation caused by absence of prekallikrein with abnormalities of coagulation, fibrinolysis, chemotactic activity, and kinin generation. 56 61
11344577 1974
14
Prekallikrein deficiency in man. 61 56
4762550 1973
15
Fletcher factor deficiency: a report of three unrelated cases. 56 61
5420590 1970
16
Six characters in search of an author: the history of the nomenclature of coagulation factors. 56
12780784 2003
17
Evidence for a new plasma thromboplastin factor. I. Case report, coagulation studies and physicochemical properties. 56
5845778 1965
18
Prolonged activated partial thromboplastin time due to plasma prekallikrein deficiency: a case study and literature review on its clinical significance. 61
31318719 2019
19
Long-term safety outcomes of prekillikrein (Fletcher factor) deficiency: A systematic literature review of case reports. 61
31530337 2019
20
The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T). 61
30430790 2019
21
A structure-function analysis in patients with prekallikrein deficiency. 61
29165051 2018
22
Cardiovascular diseases in congenital prekallikrein deficiency: comparison with other chance-associated morbidities. 61
29762144 2018
23
Prolonged Activated Clotting Time Immediately Prior to Open Cardiac Surgery. 61
30559632 2018
24
Combined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency. 61
29043243 2017
25
Prekallikrein deficiency in a 15-year-old boy with Ménière's disease: a case report. 61
27615147 2017
26
Prekallikrein deficiency. 61
27585864 2016
27
Antithrombotic potential of the contact activation pathway. 61
27380557 2016
28
A comparison of the effects of factor XII deficiency and prekallikrein deficiency on thrombus formation. 61
26950760 2016
29
Prevalence of hypertension and its complications in congenital prekallikrein deficiency: analysis of all reported cases and clinical significance. 61
25886833 2015
30
The old and the new in prekallikrein deficiency: historical context and a family from Argentina with PK deficiency due to a new mutation (Arg541Gln) in exon 14 associated with a common polymorphysm (Asn124Ser) in exon 5. 61
25075649 2014
31
Complete prekallikrein deficiency masquerading as a lupus anticoagulant. 61
24315318 2014
32
Prekallikrein deficiency. 61
23629422 2013
33
Prekallikrein deficiency presenting as recurrent cerebrovascular accident: case report and review of the literature. 61
22953077 2012
34
Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation. 61
21415712 2011
35
Prekallikrein deficiency in a dog. 61
20736516 2011
36
Comparative incidence of thrombosis in reported cases of deficiencies of factors of the contact phase of blood coagulation. 61
20577781 2011
37
Congenital prekallikrein deficiency. 61
21091145 2010
38
Automated APTT cycle for the rapid identification of plasma prekallikrein deficiency. 61
20207395 2010
39
A large family from Argentina with prekallikrein deficiency due to a compound heterozygosis (T insertion in intron 7 and Asp558Glu in exon 15): prekallikrein Cordoba. 61
20301226 2010
40
Management of prekallikrein deficiency during cardiac surgery. 61
20135073 2010
41
Thrombotic events in patients with congenital prekallikrein deficiency: a critical evaluation of all reported cases. 61
20424433 2010
42
A case of prekallikrein deficiency resulting in severe recurrent mucosal hemorrhage. 61
19773642 2009
43
[An elderly case of congenital prekallikrein deficiency]. 61
19713668 2009
44
Fletcher factor deficiency in a woman requiring emergency caesarean section. 61
19603330 2009
45
[Severe prekallikrein deficiency due to a compound heterozygosis in the KLKB1-gene]. 61
19404525 2009
46
Severe prekallikrein deficiencies due to homozygous C529Y mutations. 61
17413767 2007
47
Management of anticoagulation for coronary artery bypass surgery in a patient with severe prekallikrein deficiency. 61
16884995 2006
48
Isolated prolonged activated partial thromboplastin time in an asymptomatic patient: Fletcher factor deficiency. 61
16414101 2006
49
[Prekallikrein (Fletcher Factor) Deficiency and Prolongation of APTT Reaction]. 61
14586514 2003
50
Fletcher Factor Deficiency. 61
27265194 2002

Variations for Prekallikrein Deficiency

ClinVar genetic disease variations for Prekallikrein Deficiency:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KLKB1 NM_000892.5(KLKB1):c.337C>T (p.Arg113Ter)SNV Pathogenic 12033 rs121964949 4:187157943-187157943 4:186236789-186236789
2 KLKB1 NM_000892.5(KLKB1):c.1205G>A (p.Trp402Ter)SNV Pathogenic 12034 rs121964950 4:187173231-187173231 4:186252077-186252077
3 KLKB1 NM_000892.5(KLKB1):c.367G>A (p.Gly123Arg)SNV Pathogenic 12036 rs121964952 4:187157973-187157973 4:186236819-186236819
4 KLKB1 NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn)SNV Pathogenic 12037 rs3733402 4:187158034-187158034 4:186236880-186236880
5 KLKB1 NM_000892.5(KLKB1):c.1259G>A (p.Gly420Glu)SNV Likely pathogenic 225400 rs186254196 4:187173285-187173285 4:186252131-186252131
6 KLKB1 NM_000892.5(KLKB1):c.1643G>A (p.Cys548Tyr)SNV Uncertain significance 12035 rs121964951 4:187178437-187178437 4:186257283-186257283

UniProtKB/Swiss-Prot genetic disease variations for Prekallikrein Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 KLKB1 p.Asn143Ser VAR_013598 rs3733402
2 KLKB1 p.Gly123Arg VAR_054907 rs121964952
3 KLKB1 p.Cys548Tyr VAR_054908 rs121964951

Expression for Prekallikrein Deficiency

Search GEO for disease gene expression data for Prekallikrein Deficiency.

Pathways for Prekallikrein Deficiency

Pathways related to Prekallikrein Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

GO Terms for Prekallikrein Deficiency

Sources for Prekallikrein Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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