VKCFD2
MCID: VTM010
MIFTS: 23

Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 (VKCFD2)

Categories: Blood diseases, Genetic diseases, Oral diseases

Aliases & Classifications for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

MalaCards integrated aliases for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2:

Name: Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 57 29 13 6 70
Vkcfd2 57 12 72
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, Type 2 44 39
Combined Deficiency of Vitamin K-Dependent Clotting Factors 2 12 72

Characteristics:

HPO:

31
vitamin k-dependent clotting factors, combined deficiency of, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112174
OMIM® 57 607473
OMIM Phenotypic Series 57 PS277450
MeSH 44 C564393
MedGen 41 C1843832
UMLS 70 C1843832

Summaries for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

OMIM® : 57 Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome (Fregin et al., 2002). (607473) (Updated 20-May-2021)

MalaCards based summary : Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2, also known as vkcfd2, is related to rare hemorrhagic disorder. An important gene associated with Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 is VKORC1 (Vitamin K Epoxide Reductase Complex Subunit 1). Related phenotypes are abnormal bleeding and reduced factor x activity

Disease Ontology : 12 A hereditary combined deficiency of vitamin K-dependent clotting factors that has material basis in homozygous or compound heterozygous mutation in VKORC1 on chromosome 16p11.2.

UniProtKB/Swiss-Prot : 72 Combined deficiency of vitamin K-dependent clotting factors 2: VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K.

Related Diseases for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

Diseases related to Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rare hemorrhagic disorder 10.0

Symptoms & Phenotypes for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

Human phenotypes related to Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2:

31
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 31 HP:0001892
2 reduced factor x activity 31 HP:0008321
3 reduced factor ix activity 31 HP:0011858
4 reduced factor vii activity 31 HP:0008169
5 reduced prothrombin antigen 31 HP:0040250

Clinical features from OMIM®:

607473 (Updated 20-May-2021)

Drugs & Therapeutics for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

Search Clinical Trials , NIH Clinical Center for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

Cochrane evidence based reviews: vitamin k-dependent clotting factors, combined deficiency of, type 2

Genetic Tests for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

Genetic tests related to Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2:

# Genetic test Affiliating Genes
1 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 29 VKORC1

Anatomical Context for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

Publications for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

Articles related to Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2:

(show all 12)
# Title Authors PMID Year
1
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 61 57 6
14765194 2004
2
Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex. 6 57
11154138 2000
3
Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16. 57
12384421 2002
4
VKCFD2 - from clinical phenotype to molecular mechanism. 61
27824210 2016
5
Structural Modeling Insights into Human VKORC1 Phenotypes. 61
26287237 2015
6
Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations. 61
25151188 2014
7
The Arg98Trp mutation in human VKORC1 causing VKCFD2 disrupts a di-arginine-based ER retention motif. 61
24963046 2014
8
Familial deficiency of vitamin K-dependent clotting factors. 61
19141161 2008
9
Vitamin K-induced modification of coagulation phenotype in VKORC1 homozygous deficiency. 61
18315553 2008
10
VKORC1 and the vitamin K cycle. 61
18374188 2008
11
VKORC1: molecular target of coumarins. 61
17635701 2007
12
Site-directed mutagenesis of coumarin-type anticoagulant-sensitive VKORC1: evidence that highly conserved amino acids define structural requirements for enzymatic activity and inhibition by warfarin. 61
16270630 2005

Variations for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

ClinVar genetic disease variations for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VKORC1 NM_024006.6(VKORC1):c.292C>T (p.Arg98Trp) SNV Pathogenic 2206 rs72547528 GRCh37: 16:31102655-31102655
GRCh38: 16:31091334-31091334
2 VKORC1 NM_024006.6(VKORC1):c.*245G>A SNV Uncertain significance 318973 rs886051932 GRCh37: 16:31102210-31102210
GRCh38: 16:31090889-31090889
3 VKORC1 NM_024006.6(VKORC1):c.267A>T (p.Thr89=) SNV Uncertain significance 318976 rs200133418 GRCh37: 16:31104649-31104649
GRCh38: 16:31093328-31093328
4 VKORC1 NM_024006.6(VKORC1):c.117C>T (p.Tyr39=) SNV Uncertain significance 884452 GRCh37: 16:31105934-31105934
GRCh38: 16:31094613-31094613
5 VKORC1 NM_024006.6(VKORC1):c.54G>T (p.Thr18=) SNV Uncertain significance 884453 GRCh37: 16:31105997-31105997
GRCh38: 16:31094676-31094676
6 VKORC1 NM_024006.6(VKORC1):c.-2T>C SNV Uncertain significance 884454 GRCh37: 16:31106052-31106052
GRCh38: 16:31094731-31094731
7 VKORC1 NM_024006.6(VKORC1):c.-45G>A SNV Uncertain significance 884455 GRCh37: 16:31106095-31106095
GRCh38: 16:31094774-31094774
8 VKORC1 NM_024006.6(VKORC1):c.*172T>A SNV Uncertain significance 887421 GRCh37: 16:31102283-31102283
GRCh38: 16:31090962-31090962
9 VKORC1 NM_024006.6(VKORC1):c.*10C>G SNV Uncertain significance 887422 GRCh37: 16:31102445-31102445
GRCh38: 16:31091124-31091124
10 VKORC1 NM_024006.6(VKORC1):c.447T>C (p.Ser149=) SNV Uncertain significance 887423 GRCh37: 16:31102500-31102500
GRCh38: 16:31091179-31091179
11 VKORC1 NM_024006.6(VKORC1):c.379G>A (p.Val127Met) SNV Uncertain significance 887424 GRCh37: 16:31102568-31102568
GRCh38: 16:31091247-31091247
12 VKORC1 NM_024006.6(VKORC1):c.202C>T (p.His68Tyr) SNV Uncertain significance 887601 GRCh37: 16:31104714-31104714
GRCh38: 16:31093393-31093393
13 VKORC1 NM_024006.6(VKORC1):c.173+11G>T SNV Uncertain significance 887602 GRCh37: 16:31105867-31105867
GRCh38: 16:31094546-31094546
14 VKORC1 NM_024006.6(VKORC1):c.342C>G (p.Leu114=) SNV Uncertain significance 887599 GRCh37: 16:31102605-31102605
GRCh38: 16:31091284-31091284
15 VKORC1 NM_024006.6(VKORC1):c.129C>T (p.Cys43=) SNV Likely benign 791061 rs61742233 GRCh37: 16:31105922-31105922
GRCh38: 16:31094601-31094601
16 VKORC1 NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr) SNV Likely benign 2212 rs61742245 GRCh37: 16:31105945-31105945
GRCh38: 16:31094624-31094624
17 VKORC1 NM_024006.6(VKORC1):c.352G>C (p.Val118Leu) SNV Likely benign 887598 GRCh37: 16:31102595-31102595
GRCh38: 16:31091274-31091274
18 VKORC1 NM_024006.6(VKORC1):c.*243G>A SNV Likely benign 887420 GRCh37: 16:31102212-31102212
GRCh38: 16:31090891-31090891
19 VKORC1 NM_024006.6(VKORC1):c.36G>A (p.Arg12=) SNV Benign 318977 rs55894764 GRCh37: 16:31106015-31106015
GRCh38: 16:31094694-31094694
20 VKORC1 NM_024006.6(VKORC1):c.358C>T (p.Leu120=) SNV Benign 318975 rs7200749 GRCh37: 16:31102589-31102589
GRCh38: 16:31091268-31091268
21 VKORC1 NM_024006.6(VKORC1):c.*134G>A SNV Benign 226016 rs7294 GRCh37: 16:31102321-31102321
GRCh38: 16:31091000-31091000
22 VKORC1 NM_024006.6(VKORC1):c.196G>A (p.Val66Met) SNV Benign 692018 rs72547529 GRCh37: 16:31104720-31104720
GRCh38: 16:31093399-31093399
23 VKORC1 NM_024006.6(VKORC1):c.203A>G (p.His68Arg) SNV Benign 887600 GRCh37: 16:31104713-31104713
GRCh38: 16:31093392-31093392

UniProtKB/Swiss-Prot genetic disease variations for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2:

72
# Symbol AA change Variation ID SNP ID
1 VKORC1 p.Arg98Trp VAR_021824 rs72547528

Expression for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

Search GEO for disease gene expression data for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2.

Pathways for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

GO Terms for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

Sources for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

3 CDC
7 CNVD
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11 DGIdb
17 EFO
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