PKK DEFICIENCY
MCID: PRK005
MIFTS: 28

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 57 43 73 29 6 39 71
Fletcher Factor Deficiency 57 43 73 36 13
Pkk Deficiency 57 43 73
Congenital Prekallikrein Deficiency 43 58
Fletcher Factor Deficiency 57
Fletcher Trait 43

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 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

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

Related Diseases for Prekallikrein Deficiency

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®:

57 (Updated 05-Mar-2021)
Laboratory Abnormalities:
prolonged activated partial thromboplastin time (aptt)
prekallikrein deficiency

Clinical features from OMIM®:

612423 (Updated 05-Mar-2021)

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

Publications for Prekallikrein Deficiency

Articles related to Prekallikrein Deficiency:

(show top 50) (show all 96)
# Title Authors PMID Year
1
Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation. 57 6 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. 61 6
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. 57 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. 57 61
3487556 1986
6
Prekallikrein (Fletcher factor) deficiency. 57 61
3849948 1985
7
CRM+ severe Fletcher factor deficiency associated with Graves' disease. 61 57
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. 57 61
6919394 1982
9
HLA typing in a new family with Fletcher factor deficiency. 57 61
6918357 1982
10
Heterogeneity of human prekallikrein deficiency (Fletcher trait): evidence that five of 18 cases are positive for cross-reacting material. 57 61
6792540 1981
11
Fletcher factor deficiency: report of a new family. 61 57
694428 1978
12
Clinical and physiologic studies of two siblings with prekallikrein (Fletcher factor) deficiency. 57 61
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. 57 61
11344577 1974
14
Prekallikrein deficiency in man. 57 61
4762550 1973
15
Fletcher factor deficiency: a report of three unrelated cases. 61 57
5420590 1970
16
Six characters in search of an author: the history of the nomenclature of coagulation factors. 57
12780784 2003
17
Evidence for a new plasma thromboplastin factor. I. Case report, coagulation studies and physicochemical properties. 57
5845778 1965
18
Genetics of equine bleeding disorders. 61
32463964 2021
19
c.451dupT in KLKB1 is common in Nigerians, confirming a higher prevalence of severe prekallikrein deficiency in Africans compared to Europeans. 61
33073460 2021
20
Hereditary angioedema: Investigational therapies and future research. 61
33109328 2020
21
An acquired prekallikrein deficiency can be diagnosed only after a sure exclusion of a congenital condition. 61
32852325 2020
22
Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence. 61
32202057 2020
23
Diagnostic Pearls and Clinical Implications of Prekallikrein Deficiency. 61
32617222 2020
24
Prolonged activated partial thromboplastin time with no clear explanation. 61
31990752 2020
25
Prevalence of Cardiovascular Disorders in African-Americans With Congenital Prekallikrein Deficiency Versus Caucasians-Americans With the Same Defect. 61
33176434 2020
26
Increased Prevalence of Reported Cases of Congenital Prekallikrein Deficiency Among African Americans as Compared With the General Population of the United States. 61
32243188 2020
27
Long-term safety outcomes of prekallikrein (Fletcher factor) deficiency: A systematic literature review of case reports. 61
31888778 2020
28
Lisinopril-Induced Angioedema in a Patient with Plasma Prekallikrein Deficiency. 61
31984307 2020
29
Long-term safety outcomes of prekillikrein (Fletcher factor) deficiency: A systematic literature review of case reports. 61
31530337 2019
30
Prolonged activated partial thromboplastin time due to plasma prekallikrein deficiency: a case study and literature review on its clinical significance. 61
31318719 2019
31
The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T). 61
30430790 2019
32
Cardiovascular diseases in congenital prekallikrein deficiency: comparison with other chance-associated morbidities. 61
29762144 2018
33
A structure-function analysis in patients with prekallikrein deficiency. 61
29165051 2018
34
Prolonged Activated Clotting Time Immediately Prior to Open Cardiac Surgery. 61
30559632 2018
35
Combined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency. 61
29043243 2017
36
Prekallikrein deficiency in a 15-year-old boy with Ménière's disease: a case report. 61
27615147 2017
37
Prekallikrein deficiency. 61
27585864 2016
38
Antithrombotic potential of the contact activation pathway. 61
27380557 2016
39
A comparison of the effects of factor XII deficiency and prekallikrein deficiency on thrombus formation. 61
26950760 2016
40
Prevalence of hypertension and its complications in congenital prekallikrein deficiency: analysis of all reported cases and clinical significance. 61
25886833 2015
41
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
42
Complete prekallikrein deficiency masquerading as a lupus anticoagulant. 61
24315318 2014
43
Prekallikrein deficiency. 61
23629422 2013
44
Prekallikrein deficiency presenting as recurrent cerebrovascular accident: case report and review of the literature. 61
22953077 2012
45
Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation. 61
21415712 2011
46
Prekallikrein deficiency in a dog. 61
20736516 2011
47
Comparative incidence of thrombosis in reported cases of deficiencies of factors of the contact phase of blood coagulation. 61
20577781 2011
48
Congenital prekallikrein deficiency. 61
21091145 2010
49
Automated APTT cycle for the rapid identification of plasma prekallikrein deficiency. 61
20207395 2010
50
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

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.1643G>A (p.Cys548Tyr) SNV Pathogenic 12035 rs121964951 4:187178437-187178437 4:186257283-186257283
4 KLKB1 NM_000892.5(KLKB1):c.367G>A (p.Gly123Arg) SNV Pathogenic 12036 rs121964952 4:187157973-187157973 4:186236819-186236819
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.428G>A (p.Ser143Asn) SNV Conflicting interpretations of pathogenicity 12037 rs3733402 4:187158034-187158034 4:186236880-186236880

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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