Prekallikrein Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PKK DEFICIENCY MCID: PRK005 MIFTS: 30	Prekallikrein Deficiency (PKK DEFICIENCY) Categories: Blood diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

Other coagulation defects

Other specified coagulation defects

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

Sources

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

Sources

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
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:

Sources

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

Sources

Drugs & Therapeutics for Prekallikrein Deficiency

Search Clinical Trials , NIH Clinical Center for Prekallikrein Deficiency

Sources

Genetic Tests for Prekallikrein Deficiency

Genetic tests related to Prekallikrein Deficiency:

#	Genetic test	Affiliating Genes
1	Prekallikrein Deficiency ²⁹	KLKB1

Sources

Anatomical Context for Prekallikrein Deficiency

MalaCards organs/tissues related to Prekallikrein Deficiency:

⁴⁰

Testes, Heart

Sources

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	Wynne Jones D...Mumford AD	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	Katsuda I...Ichihara Y	17598838	2007
3	Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr). ⁶ ⁶¹	Lombardi AM...Girolami A	14652634	2003
4	Fletcher factor deficiency in a 9-year-old girl: mechanisms of the contact pathway of blood coagulation. ⁵⁶ ⁶¹	DeLa Cadena RA	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	Bouma BN...Griffin JH	3487556	1986
6	Prekallikrein (Fletcher factor) deficiency. ⁶¹ ⁵⁶	Sollo DG...Saleem A	3849948	1985
7	CRM+ severe Fletcher factor deficiency associated with Graves' disease. ⁵⁶ ⁶¹	Kyrle PA...Mannhalter C	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	Poon MC...Lehmeyer J	6919394	1982
9	HLA typing in a new family with Fletcher factor deficiency. ⁵⁶ ⁶¹	Raffoux C...Streiff F	6918357	1982
10	Heterogeneity of human prekallikrein deficiency (Fletcher trait): evidence that five of 18 cases are positive for cross-reacting material. ⁶¹ ⁵⁶	Saito H...Espana F	6792540	1981
11	Fletcher factor deficiency: report of a new family. ⁵⁶ ⁶¹	Aznar JA...Jimenez C	694428	1978
12	Clinical and physiologic studies of two siblings with prekallikrein (Fletcher factor) deficiency. ⁶¹ ⁵⁶	Hathaway WE...Mass MF	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	Weiss AS...Kaplan AP	11344577	1974
14	Prekallikrein deficiency in man. ⁶¹ ⁵⁶	Wuepper KD	4762550	1973
15	Fletcher factor deficiency: a report of three unrelated cases. ⁵⁶ ⁶¹	Hattersley PG...Hayse D	5420590	1970
16	Six characters in search of an author: the history of the nomenclature of coagulation factors. ⁵⁶	Giangrande PL	12780784	2003
17	Evidence for a new plasma thromboplastin factor. I. Case report, coagulation studies and physicochemical properties. ⁵⁶	Hathaway WE...Hathaway HS	5845778	1965
18	Prolonged activated partial thromboplastin time due to plasma prekallikrein deficiency: a case study and literature review on its clinical significance. ⁶¹	Zhou K...Khadim H	31318719	2019
19	Long-term safety outcomes of prekillikrein (Fletcher factor) deficiency: A systematic literature review of case reports. ⁶¹	Girolami A...Bernstein JA	31530337	2019
20	The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T). ⁶¹	Ryu S...Kim HK	30430790	2019
21	A structure-function analysis in patients with prekallikrein deficiency. ⁶¹	Girolami A...Lombardi AM	29165051	2018
22	Cardiovascular diseases in congenital prekallikrein deficiency: comparison with other chance-associated morbidities. ⁶¹	Girolami A...Girolami B	29762144	2018
23	Prolonged Activated Clotting Time Immediately Prior to Open Cardiac Surgery. ⁶¹	Baker SM...Warrier RP	30559632	2018
24	Combined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency. ⁶¹	Shahverdi E...Ahmadinejad M	29043243	2017
25	Prekallikrein deficiency in a 15-year-old boy with Ménière's disease: a case report. ⁶¹	Criel M...Lemmens J	27615147	2017
26	Prekallikrein deficiency. ⁶¹	Zheng S...Brighton T	27585864	2016
27	Antithrombotic potential of the contact activation pathway. ⁶¹	Schmaier AH	27380557	2016
28	A comparison of the effects of factor XII deficiency and prekallikrein deficiency on thrombus formation. ⁶¹	Kokoye Y...Gailani D	26950760	2016
29	Prevalence of hypertension and its complications in congenital prekallikrein deficiency: analysis of all reported cases and clinical significance. ⁶¹	Girolami A...Girolami B	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	Girolami A...Guglielmone H	25075649	2014
31	Complete prekallikrein deficiency masquerading as a lupus anticoagulant. ⁶¹	Moore GW...D'Cruz DP	24315318	2014
32	Prekallikrein deficiency. ⁶¹	Quail MT	23629422	2013
33	Prekallikrein deficiency presenting as recurrent cerebrovascular accident: case report and review of the literature. ⁶¹	Bojanini EU...Pimentel A	22953077	2012
34	Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation. ⁶¹	Nakao T...Iwao H	21415712	2011
35	Prekallikrein deficiency in a dog. ⁶¹	Okawa T...Mizuno T	20736516	2011
36	Comparative incidence of thrombosis in reported cases of deficiencies of factors of the contact phase of blood coagulation. ⁶¹	Girolami A...Girolami B	20577781	2011
37	Congenital prekallikrein deficiency. ⁶¹	Girolami A...Lombardi AM	21091145	2010
38	Automated APTT cycle for the rapid identification of plasma prekallikrein deficiency. ⁶¹	Corno AR...Nichelatti M	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	Girolami A...Lombardi AM	20301226	2010
40	Management of prekallikrein deficiency during cardiac surgery. ⁶¹	Eeckhoudt SL...Hermans C	20135073	2010
41	Thrombotic events in patients with congenital prekallikrein deficiency: a critical evaluation of all reported cases. ⁶¹	Girolami A...Girolami B	20424433	2010
42	A case of prekallikrein deficiency resulting in severe recurrent mucosal hemorrhage. ⁶¹	Dasanu CA...Alexandrescu DT	19773642	2009
43	[An elderly case of congenital prekallikrein deficiency]. ⁶¹	Nagaya S...Ohtake S	19713668	2009
44	Fletcher factor deficiency in a woman requiring emergency caesarean section. ⁶¹	Odumosu MC...Fakokunde AF	19603330	2009
45	[Severe prekallikrein deficiency due to a compound heterozygosis in the KLKB1-gene]. ⁶¹	Maak B...Jenderny J	19404525	2009
46	Severe prekallikrein deficiencies due to homozygous C529Y mutations. ⁶¹	Francois D...de Mazancourt P	17413767	2007
47	Management of anticoagulation for coronary artery bypass surgery in a patient with severe prekallikrein deficiency. ⁶¹	Oram MP...Underwood S	16884995	2006
48	Isolated prolonged activated partial thromboplastin time in an asymptomatic patient: Fletcher factor deficiency. ⁶¹	Acar K...Haznedar R	16414101	2006
49	[Prekallikrein (Fletcher Factor) Deficiency and Prolongation of APTT Reaction]. ⁶¹	Dietzel H...Liebscher K	14586514	2003
50	Fletcher Factor Deficiency. ⁶¹	Dundar S	27265194	2002

Sources

Genes for Prekallikrein Deficiency

Genes related to Prekallikrein Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KLKB1	Kallikrein B1	Protein Coding	1686.93	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	15461630 14652634 17598838

Sources

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

Sources

Expression for Prekallikrein Deficiency

Search GEO for disease gene expression data for Prekallikrein Deficiency.

Sources

Pathways for Prekallikrein Deficiency

Pathways related to Prekallikrein Deficiency according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Complement and coagulation cascades	hsa04610

Sources

GO Terms for Prekallikrein Deficiency

Sources

Sources for Prekallikrein Deficiency

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Prekallikrein Deficiency (PKK DEFICIENCY)

Aliases & Classifications for Prekallikrein Deficiency

MalaCards integrated aliases for Prekallikrein Deficiency:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Prekallikrein Deficiency

Related Diseases for Prekallikrein Deficiency

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

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

Symptoms & Phenotypes for Prekallikrein Deficiency

Human phenotypes related to Prekallikrein Deficiency:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Prekallikrein Deficiency

Genetic Tests for Prekallikrein Deficiency

Genetic tests related to Prekallikrein Deficiency:

Anatomical Context for Prekallikrein Deficiency

MalaCards organs/tissues related to Prekallikrein Deficiency:

Publications for Prekallikrein Deficiency

Articles related to Prekallikrein Deficiency:

Genes for Prekallikrein Deficiency

Genes related to Prekallikrein Deficiency (1 elite genes):

Variations for Prekallikrein Deficiency

ClinVar genetic disease variations for Prekallikrein Deficiency:

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

Expression for Prekallikrein Deficiency

Pathways for Prekallikrein Deficiency

Pathways related to Prekallikrein Deficiency according to KEGG:

GO Terms for Prekallikrein Deficiency

Sources for Prekallikrein Deficiency