MCID: PRK005
MIFTS: 29

Prekallikrein Deficiency

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Prekallikrein Deficiency

MalaCards integrated aliases for Prekallikrein Deficiency:

Name: Prekallikrein Deficiency 57 25 75 29 6 40 73
Fletcher Factor Deficiency 57 25 75 37 13
Pkk Deficiency 57 25 75
Congenital Prekallikrein Deficiency 25 59
Fletcher Factor Deficiency 57
Fletcher Trait 25

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
reported patients are asymptomatic


HPO:

32
prekallikrein deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612423
Orphanet 59 ORPHA749
ICD10 via Orphanet 34 D68.8
UMLS via Orphanet 74 C0272339
MedGen 42 C0272339
KEGG 37 H01078
SNOMED-CT via HPO 69 258211005 409675001
UMLS 73 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.

MalaCards based summary : Prekallikrein Deficiency, also known as fletcher factor deficiency, is related to prekallikrein deficiency, congenital and leukemia, chronic lymphocytic. 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 HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotype is prolonged partial thromboplastin time.

UniProtKB/Swiss-Prot : 75 Prekallikrein deficiency: This disorder is a blood coagulation defect.

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 prekallikrein deficiency, congenital 12.0
2 leukemia, chronic lymphocytic 9.9
3 myocardial infarction 9.9
4 typhoid fever 9.9
5 bernard-soulier syndrome 9.8
6 factor xii deficiency 9.8
7 mucositis 9.8
8 graves' disease 9.8

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



Diseases related to Prekallikrein Deficiency

Symptoms & Phenotypes for Prekallikrein Deficiency

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
prolonged activated partial thromboplastin time (aptt)
prekallikrein deficiency


Clinical features from OMIM:

612423

Human phenotypes related to Prekallikrein Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 prolonged partial thromboplastin time 32 HP:0003645

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 HIV Protease Inhibitors
3 Kininogens
4
protease inhibitors
5 Vasodilator Agents
6 cysteine Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thrombus Formation Under Different Flow-conditions Enrolling by invitation 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 29 KLKB1

Anatomical Context for Prekallikrein Deficiency

MalaCards organs/tissues related to Prekallikrein Deficiency:

41
Testes

Publications for Prekallikrein Deficiency

Articles related to Prekallikrein Deficiency:

(show all 29)
# Title Authors Year
1
Cardiovascular diseases in congenital prekallikrein deficiency: comparison with other chance-associated morbidities. ( 29762144 )
2018
2
A structure-function analysis in patients with prekallikrein deficiency. ( 29165051 )
2017
3
Combined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency. ( 29043243 )
2017
4
Prekallikrein deficiency in a 15-year-old boy with MAcniA"re's disease: a case report. ( 27615147 )
2016
5
Prekallikrein deficiency. ( 27585864 )
2016
6
A comparison of the effects of factor XII deficiency and prekallikrein deficiency on thrombus formation. ( 26950760 )
2016
7
Prevalence of hypertension and its complications in congenital prekallikrein deficiency: analysis of all reported cases and clinical significance. ( 25886833 )
2015
8
Complete prekallikrein deficiency masquerading as a lupus anticoagulant. ( 24315318 )
2014
9
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
10
Prekallikrein deficiency. ( 23629422 )
2013
11
Prekallikrein deficiency presenting as recurrent cerebrovascular accident: case report and review of the literature. ( 22953077 )
2012
12
Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation. ( 21415712 )
2011
13
Prekallikrein deficiency in a dog. ( 20736516 )
2011
14
Automated APTT cycle for the rapid identification of plasma prekallikrein deficiency. ( 20207395 )
2010
15
Thrombotic events in patients with congenital prekallikrein deficiency: a critical evaluation of all reported cases. ( 20424433 )
2010
16
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
17
Management of prekallikrein deficiency during cardiac surgery. ( 20135073 )
2010
18
Congenital prekallikrein deficiency. ( 21091145 )
2010
19
A case of prekallikrein deficiency resulting in severe recurrent mucosal hemorrhage. ( 19773642 )
2009
20
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
21
Management of anticoagulation for coronary artery bypass surgery in a patient with severe prekallikrein deficiency. ( 16884995 )
2006
22
Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation. ( 15461630 )
2004
23
Prekallikrein deficiency: the characteristic normalization of the severely prolonged aPTT following increased preincubation time is due to autoactivation of factor XII. ( 12091043 )
2002
24
Spinal anesthesia in a patient with prekallikrein deficiency. ( 8942607 )
1996
25
Replacement therapy in a patient with congenital prekallikrein deficiency undergoing surgery. ( 1391808 )
1992
26
Prekallikrein deficiency in a family of Belgian horses. ( 2211324 )
1990
27
A new Italian family with severe prekallikrein deficiency. Desmopressin-induced fibrinolysis and coagulation changes in homozygous and heterozygous members. ( 2127471 )
1990
28
Association of Graves' disease and prekallikrein congenital deficiency in a patient belonging to the first CRM+ prekallikrein-deficient Italian family. ( 2084960 )
1990
29
Prekallikrein deficiency in a kindred with kininogen deficiency and Fitzgerald trait clotting defect. Evidence that high molecular weight kininogen and prekallikrein exist as a complex in normal human plasma. ( 893663 )
1977

Variations for Prekallikrein Deficiency

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

75
# 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
# 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_000892.4(KLKB1): c.367G> A (p.Gly123Arg) single nucleotide variant Pathogenic rs121964952 GRCh37 Chromosome 4, 187157973: 187157973
6 KLKB1 NM_000892.4(KLKB1): c.367G> A (p.Gly123Arg) single nucleotide variant Pathogenic rs121964952 GRCh38 Chromosome 4, 186236819: 186236819
7 KLKB1 NM_000892.4(KLKB1): c.428G> A (p.Ser143Asn) single nucleotide variant Pathogenic rs3733402 GRCh37 Chromosome 4, 187158034: 187158034
8 KLKB1 NM_000892.4(KLKB1): c.428G> A (p.Ser143Asn) single nucleotide variant Pathogenic rs3733402 GRCh38 Chromosome 4, 186236880: 186236880
9 KLKB1 NM_000892.4(KLKB1): c.1259G> A (p.Gly420Glu) single nucleotide variant Likely pathogenic rs186254196 GRCh37 Chromosome 4, 187173285: 187173285
10 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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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