VKCFD2
MCID: VTM010
MIFTS: 16

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 58 30 13 6 74
Vkcfd2 58 76
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, Type 2 41
Combined Deficiency of Vitamin K-Dependent Clotting Factors 2 76

Characteristics:

HPO:

33
vitamin k-dependent clotting factors, combined deficiency of, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 607473
MedGen 43 C1843832
UMLS 74 C1843832

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

OMIM : 58 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)

MalaCards based summary : Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2, is also known as vkcfd2. 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 vii activity

UniProtKB/Swiss-Prot : 76 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

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:

33
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 33 HP:0001892
2 reduced factor vii activity 33 HP:0008169
3 reduced factor ix activity 33 HP:0011858
4 reduced factor x activity 33 HP:0008321
5 reduced prothrombin antigen 33 HP:0040250

Clinical features from OMIM:

607473

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

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 30 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:

# Title Authors Year
1
VKCFD2 - from clinical phenotype to molecular mechanism. ( 27824210 )
2016
2
The Arg98Trp mutation in human VKORC1 causing VKCFD2 disrupts a di-arginine-based ER retention motif. ( 24963046 )
2014
3
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. ( 14765194 )
2004
4
Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex. ( 11154138 )
2000

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

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

76
# Symbol AA change Variation ID SNP ID
1 VKORC1 p.Arg98Trp VAR_021824 rs72547528

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VKORC1 NM_024006.5(VKORC1): c.292C> T (p.Arg98Trp) single nucleotide variant Pathogenic rs72547528 GRCh37 Chromosome 16, 31102655: 31102655
2 VKORC1 NM_024006.5(VKORC1): c.292C> T (p.Arg98Trp) single nucleotide variant Pathogenic rs72547528 GRCh38 Chromosome 16, 31091334: 31091334

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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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