MCID: HGH020
MIFTS: 27

High Molecular Weight Kininogen Deficiency

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for High Molecular Weight Kininogen Deficiency

MalaCards integrated aliases for High Molecular Weight Kininogen Deficiency:

Name: High Molecular Weight Kininogen Deficiency 57 53 75 29 6 40 73
Hmwk Deficiency 57 75
High-Molecular-Weight Kininogen Deficiency, Congenital 53
Congenital High-Molecular-Weight Kininogen Deficiency 59
Kininogen Deficiency, High Molecular Weight 57
Flaujeac Factor Deficiency 53
Kininogen Deficiency 57
Fitzgerald Trait 57
Hmwk 53

Characteristics:

Orphanet epidemiological data:

59
congenital high-molecular-weight kininogen deficiency
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
high molecular weight kininogen deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 228960
Orphanet 59 ORPHA483
UMLS via Orphanet 74 C0272340
ICD10 via Orphanet 34 D68.8
SNOMED-CT via HPO 69 258211005 409675001 27312002
UMLS 73 C0272340

Summaries for High Molecular Weight Kininogen Deficiency

OMIM : 57 High molecular weight kininogen (HMWK) deficiency is an autosomal recessive coagulation defect. It is known by a variety of names, including Fitzgerald trait, Flaujeac trait, and Williams trait. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface-mediated activation of fibrinolysis. Fitzgerald trait represents a 'true' deficiency of HMWK, whereas Flaujeac and Williams traits represent total kininogen deficiency, in which both HMWK and low molecular weight kininogen (LMWK) are deficient. HMWK and LMWK are both encoded by the KNG1 gene (612358) (Bick, 2002; Takagaki et al., 1985). (228960)

MalaCards based summary : High Molecular Weight Kininogen Deficiency, also known as hmwk deficiency, is related to prekallikrein deficiency and aortic aneurysm. An important gene associated with High Molecular Weight Kininogen Deficiency is KNG1 (Kininogen 1). The drugs Bradykinin and HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include endothelial, and related phenotypes are prolonged partial thromboplastin time and reduced kininogen activity

UniProtKB/Swiss-Prot : 75 High molecular weight kininogen deficiency: Autosomal recessive coagulation defect. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface- mediated activation of fibrinolysis.

Wikipedia : 76 High-molecular-weight kininogen (HMWK or HK) is a circulating plasma protein which participates in the... more...

Related Diseases for High Molecular Weight Kininogen Deficiency

Diseases related to High Molecular Weight Kininogen Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 prekallikrein deficiency 10.0
2 aortic aneurysm 9.8

Symptoms & Phenotypes for High Molecular Weight Kininogen Deficiency

Symptoms via clinical synopsis from OMIM:

57
Heme:
procoagulant deficiency
flaujeac factor deficiency
fitzgerald factor deficiency
williams factor deficiency
kininogen deficiency
more
Lab:
prolonged partial thromboplastin time


Clinical features from OMIM:

228960

Human phenotypes related to High Molecular Weight Kininogen Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 prolonged partial thromboplastin time 32 HP:0003645
2 reduced kininogen activity 32 HP:0005527

Drugs & Therapeutics for High Molecular Weight Kininogen Deficiency

Drugs for High Molecular Weight Kininogen 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 High Molecular Weight Kininogen Deficiency

Genetic Tests for High Molecular Weight Kininogen Deficiency

Genetic tests related to High Molecular Weight Kininogen Deficiency:

# Genetic test Affiliating Genes
1 High Molecular Weight Kininogen Deficiency 29 KNG1

Anatomical Context for High Molecular Weight Kininogen Deficiency

MalaCards organs/tissues related to High Molecular Weight Kininogen Deficiency:

41
Endothelial

Publications for High Molecular Weight Kininogen Deficiency

Articles related to High Molecular Weight Kininogen Deficiency:

# Title Authors Year
1
A case of acquired high molecular weight kininogen deficiency. ( 27773017 )
2016
2
Isolated high-molecular-weight kininogen deficiency: a novel frameshift mutation in exon 10. ( 17522339 )
2007
3
Characterization of molecular defects of Fitzgerald trait and another novel high-molecular-weight kininogen-deficient patient: insights into structural requirements for kininogen expression. ( 12576314 )
2003
4
High molecular weight kininogen deficiency: a patient who underwent cardiac surgery. ( 11246531 )
2001
5
Molecular genetic survey of five Japanese families with high-molecular-weight kininogen deficiency. ( 1968772 )
1990
6
Tachibana trait: human high molecular weight kininogen deficiency with diminished levels of prekallikrein and low molecular weight kininogen. ( 3853954 )
1985

Variations for High Molecular Weight Kininogen Deficiency

ClinVar genetic disease variations for High Molecular Weight Kininogen Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KNG1 NM_001102416.2(KNG1): c.1866_1869delTAGT (p.Ser623Lysfs) deletion Uncertain significance rs1085307077 GRCh37 Chromosome 3, 186460051: 186460054
2 KNG1 NM_001102416.2(KNG1): c.1866_1869delTAGT (p.Ser623Lysfs) deletion Uncertain significance rs1085307077 GRCh38 Chromosome 3, 186742262: 186742265

Expression for High Molecular Weight Kininogen Deficiency

Search GEO for disease gene expression data for High Molecular Weight Kininogen Deficiency.

Pathways for High Molecular Weight Kininogen Deficiency

GO Terms for High Molecular Weight Kininogen Deficiency

Sources for High Molecular Weight Kininogen 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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