MCID: VTM010
MIFTS: 17

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

Categories: Genetic diseases, Blood 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 53 28 13 69
Vkcfd2 53 71
Combined Deficiency of Vitamin K-Dependent Clotting Factors 2 71

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 53 607473
MedGen 39 C1843832
UMLS 69 C1843832

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

OMIM : 53 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, also known as vkcfd2, is related to blood group--diego system, and has symptoms including abnormal bleeding, reduced factor vii activity and reduced factor x activity. An important gene associated with Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 is VKORC1 (Vitamin K Epoxide Reductase Complex Subunit 1).

UniProtKB/Swiss-Prot : 71 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 blood group--diego system 9.9

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

Clinical features from OMIM:

607473

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 vii activity 31 HP:0008169
3 reduced factor x activity 31 HP:0008321
4 reduced factor ix activity 31 HP:0011858
5 reduced prothrombin activity 31 HP:0012201

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 28 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

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:

71
# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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