PKK DEFICIENCY
MCID: PRK005
MIFTS: 31

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 58 26 76 30 6 41 74
Fletcher Factor Deficiency 58 26 76 38 13
Pkk Deficiency 58 26 76
Congenital Prekallikrein Deficiency 26 60
Fletcher Factor Deficiency 58
Fletcher Trait 26

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
reported patients are asymptomatic


HPO:

33
prekallikrein deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 612423
KEGG 38 H01078
ICD10 via Orphanet 35 D68.8
UMLS via Orphanet 75 C0272339
Orphanet 60 ORPHA749
MedGen 43 C0272339
SNOMED-CT via HPO 70 258211005 409675001
UMLS 74 C0272339

Summaries for Prekallikrein Deficiency

Genetics Home Reference : 26 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.

MalaCards based summary : Prekallikrein Deficiency, also known as fletcher factor deficiency, is related to prekallikrein deficiency, congenital and leukemia, chronic lymphocytic 2. An important gene associated with Prekallikrein Deficiency is KLKB1 (Kallikrein B1), and among its related pathways/superpathways is Complement and coagulation cascades. The drugs Bradykinin and Vasodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include testes and b cells, and related phenotype is prolonged partial thromboplastin time.

UniProtKB/Swiss-Prot : 76 Prekallikrein deficiency: This disorder is a blood coagulation defect.

Wikipedia : 77 Prekallikrein (PK), also known as Fletcher factor, is an 85,000 Mr serine protease that complexes with... more...

Description 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 15)
# Related Disease Score Top Affiliating Genes
1 prekallikrein deficiency, congenital 12.2
2 leukemia, chronic lymphocytic 2 10.0
3 leukemia, chronic lymphocytic 10.0
4 myocardial infarction 10.0
5 factor xi deficiency 10.0
6 leukemia 10.0
7 lymphocytic leukemia 10.0
8 typhoid fever 10.0
9 leukemia, b-cell, chronic 10.0
10 meniere disease 9.9
11 bernard-soulier syndrome 9.9
12 factor xii deficiency 9.9
13 thrombosis 9.9
14 graves' disease 9.9
15 intracranial thrombosis 9.9

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:

33
# Description HPO Frequency HPO Source Accession
1 prolonged partial thromboplastin time 33 HP:0003645

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
prolonged activated partial thromboplastin time (aptt)
prekallikrein deficiency

Clinical features from OMIM:

612423

Drugs & Therapeutics for Prekallikrein Deficiency

Drugs for Prekallikrein Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bradykinin Investigational 58-82-2 439201
2 Vasodilator Agents
3 Kininogens
4 HIV Protease Inhibitors
5 cysteine
6
protease inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thrombus Formation Under Different Flow-conditions Unknown status NCT01114074

Search NIH Clinical Center for Prekallikrein Deficiency

Genetic Tests for Prekallikrein Deficiency

Genetic tests related to Prekallikrein Deficiency:

# Genetic test Affiliating Genes
1 Prekallikrein Deficiency 30 KLKB1

Anatomical Context for Prekallikrein Deficiency

MalaCards organs/tissues related to Prekallikrein Deficiency:

42
Testes, B Cells

Publications for Prekallikrein Deficiency

Articles related to Prekallikrein Deficiency:

(show top 50) (show all 60)
# Title Authors Year
1
The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T). ( 30430790 )
2019
2
A structure-function analysis in patients with prekallikrein deficiency. ( 29165051 )
2018
3
Cardiovascular diseases in congenital prekallikrein deficiency: comparison with other chance-associated morbidities. ( 29762144 )
2018
4
Combined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency. ( 29043243 )
2017
5
Prekallikrein deficiency in a 15-year-old boy with Ménière's disease: a case report. ( 27615147 )
2017
6
A comparison of the effects of factor XII deficiency and prekallikrein deficiency on thrombus formation. ( 26950760 )
2016
7
Prekallikrein deficiency. ( 27585864 )
2016
8
Prevalence of hypertension and its complications in congenital prekallikrein deficiency: analysis of all reported cases and clinical significance. ( 25886833 )
2015
9
Complete prekallikrein deficiency masquerading as a lupus anticoagulant. ( 24315318 )
2014
10
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. ( 25075649 )
2014
11
Prekallikrein deficiency. ( 23629422 )
2013
12
Prekallikrein deficiency presenting as recurrent cerebrovascular accident: case report and review of the literature. ( 22953077 )
2012
13
Prekallikrein deficiency in a dog. ( 20736516 )
2011
14
Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation. ( 21415712 )
2011
15
Management of prekallikrein deficiency during cardiac surgery. ( 20135073 )
2010
16
Automated APTT cycle for the rapid identification of plasma prekallikrein deficiency. ( 20207395 )
2010
17
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. ( 20301226 )
2010
18
Thrombotic events in patients with congenital prekallikrein deficiency: a critical evaluation of all reported cases. ( 20424433 )
2010
19
Congenital prekallikrein deficiency. ( 21091145 )
2010
20
A case of prekallikrein deficiency resulting in severe recurrent mucosal hemorrhage. ( 19773642 )
2009
21
Fletcher factor deficiency in a woman requiring emergency caesarean section. ( 19603330 )
2009
22
A new type of plasma prekallikrein deficiency associated with homozygosity for Gly104Arg and Asn124Ser in apple domain 2 of the heavy-chain region. ( 17598838 )
2007
23
Management of anticoagulation for coronary artery bypass surgery in a patient with severe prekallikrein deficiency. ( 16884995 )
2006
24
Isolated prolonged activated partial thromboplastin time in an asymptomatic patient: Fletcher factor deficiency. ( 16414101 )
2006
25
Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation. ( 15461630 )
2004
26
Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr). ( 14652634 )
2003
27
Prekallikrein deficiency: the characteristic normalization of the severely prolonged aPTT following increased preincubation time is due to autoactivation of factor XII. ( 12091043 )
2002
28
Prolonged Partial Thromboplastin Time Without Bleeding History; Fletcher Factor Deficiency. ( 27264979 )
2002
29
Fletcher Factor Deficiency. ( 27265194 )
2002
30
Spinal anesthesia in a patient with prekallikrein deficiency. ( 8942607 )
1996
31
Fletcher factor deficiency in a 9-year-old girl: mechanisms of the contact pathway of blood coagulation. ( 7717377 )
1995
32
Replacement therapy in a patient with congenital prekallikrein deficiency undergoing surgery. ( 1391808 )
1992
33
A new Italian family with severe prekallikrein deficiency. Desmopressin-induced fibrinolysis and coagulation changes in homozygous and heterozygous members. ( 2127471 )
1990
34
Prekallikrein deficiency in a family of Belgian horses. ( 2211324 )
1990
35
Characterization of a variant prekallikrein, prekallikrein Long Beach, from a family with mixed cross-reacting material-positive and cross-reacting material-negative prekallikrein deficiency. ( 3487556 )
1986
36
Prekallikrein deficiency in a dog. ( 3632973 )
1986
37
Prekallikrein deficiency in a family of miniature horses. ( 3641551 )
1986
38
Multiple cerebral thrombosis in Fletcher factor (prekallikrein) deficiency: a case report. ( 3849258 )
1985
39
Prekallikrein (Fletcher factor) deficiency. ( 3849948 )
1985
40
CRM+ severe Fletcher factor deficiency associated with Graves' disease. ( 6568197 )
1984
41
Fletcher factor deficiency (Report of a new case). ( 6558774 )
1983
42
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. ( 6919394 )
1982
43
HLA typing in a new family with Fletcher factor deficiency. ( 6918357 )
1982
44
Heterogeneity of human prekallikrein deficiency (Fletcher trait): evidence that five of 18 cases are positive for cross-reacting material. ( 6792540 )
1981
45
Prekallikrein (Fletcher factor) deficiency in typhoid fever. ( 6914157 )
1981
46
Fletcher factor deficiency, source of variations of the activated partial thromboplastin time test. ( 6908796 )
1981
47
Fletcher factor deficiency with mildly prolonged activated PTT. ( 6901278 )
1980
48
Prekallikrein (Fletcher factor) deficiency in clinical disease states. ( 6902559 )
1980
49
Plasma prekallikrein (Fletcher factor) deficiency in a patient with chronic lymphocytic leukemia. ( 6905267 )
1980
50
Fletcher factor deficiency: report of a new family. ( 694428 )
1978

Variations for Prekallikrein Deficiency

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

76
# Symbol AA change Variation ID SNP ID
1 KLKB1 p.Asn143Ser VAR_013598 rs3733402
2 KLKB1 p.Gly123Arg VAR_054907
3 KLKB1 p.Cys548Tyr VAR_054908

ClinVar genetic disease variations for Prekallikrein Deficiency:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 KLKB1 NM_000892.4(KLKB1): c.337C> T (p.Arg113Ter) single nucleotide variant Pathogenic rs121964949 GRCh37 Chromosome 4, 187157943: 187157943
2 KLKB1 NM_000892.4(KLKB1): c.337C> T (p.Arg113Ter) single nucleotide variant Pathogenic rs121964949 GRCh38 Chromosome 4, 186236789: 186236789
3 KLKB1 NM_000892.4(KLKB1): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121964950 GRCh37 Chromosome 4, 187173231: 187173231
4 KLKB1 NM_000892.4(KLKB1): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121964950 GRCh38 Chromosome 4, 186252077: 186252077
5 KLKB1 NM_000892.3(KLKB1): c.1643G> A (p.Cys548Tyr) single nucleotide variant Uncertain significance rs121964951 GRCh37 Chromosome 4, 187178437: 187178437
6 KLKB1 NM_000892.3(KLKB1): c.1643G> A (p.Cys548Tyr) single nucleotide variant Uncertain significance rs121964951 GRCh38 Chromosome 4, 186257283: 186257283
7 KLKB1 NM_000892.4(KLKB1): c.367G> A (p.Gly123Arg) single nucleotide variant Pathogenic rs121964952 GRCh37 Chromosome 4, 187157973: 187157973
8 KLKB1 NM_000892.4(KLKB1): c.367G> A (p.Gly123Arg) single nucleotide variant Pathogenic rs121964952 GRCh38 Chromosome 4, 186236819: 186236819
9 KLKB1 NM_000892.4(KLKB1): c.428G> A (p.Ser143Asn) single nucleotide variant Pathogenic rs3733402 GRCh37 Chromosome 4, 187158034: 187158034
10 KLKB1 NM_000892.4(KLKB1): c.428G> A (p.Ser143Asn) single nucleotide variant Pathogenic rs3733402 GRCh38 Chromosome 4, 186236880: 186236880
11 KLKB1 NM_000892.4(KLKB1): c.1259G> A (p.Gly420Glu) single nucleotide variant Likely pathogenic rs186254196 GRCh37 Chromosome 4, 187173285: 187173285
12 KLKB1 NM_000892.4(KLKB1): c.1259G> A (p.Gly420Glu) single nucleotide variant Likely pathogenic rs186254196 GRCh38 Chromosome 4, 186252131: 186252131

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:

38
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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