MCID: VTM010
MIFTS: 16

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 57 29 13 6 73
Vkcfd2 57 75
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, Type 2 40
Combined Deficiency of Vitamin K-Dependent Clotting Factors 2 75

Characteristics:

HPO:

32
vitamin k-dependent clotting factors, combined deficiency of, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 607473
MedGen 42 C1843832
UMLS 73 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)

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 : 75 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

Clinical features from OMIM:

607473

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

32
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 32 HP:0001892
2 reduced factor vii activity 32 HP:0008169
3 reduced factor x activity 32 HP:0008321
4 reduced factor ix activity 32 HP:0011858
5 reduced prothrombin activity 32 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 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

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:

75
# 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 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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