MCID: HRD160
MIFTS: 15

Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors

Categories: Metabolic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting...

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

Name: Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors 59
Hereditary Combined Deficiency of Factors Ii, Vii, Ix and X 59

Characteristics:

Orphanet epidemiological data:

59
hereditary combined deficiency of vitamin k-dependent clotting factors
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA98434
UMLS via Orphanet 74 C1848534
ICD10 via Orphanet 34 D68.2

Summaries for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting...

MalaCards based summary : Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors, also known as hereditary combined deficiency of factors ii, vii, ix and x, is related to vitamin k deficiency hemorrhagic disease and pseudoxanthoma elasticum. An important gene associated with Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors is GGCX (Gamma-Glutamyl Carboxylase), and among its related pathways/superpathways are Ubiquinol biosynthesis and Warfarin Pathway, Pharmacodynamics.

Related Diseases for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting...

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

# Related Disease Score Top Affiliating Genes
1 vitamin k deficiency hemorrhagic disease 9.2 GGCX VKORC1
2 pseudoxanthoma elasticum 9.0 GGCX VKORC1

Symptoms & Phenotypes for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting...

Drugs & Therapeutics for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting...

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

Genetic Tests for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting...

Anatomical Context for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting...

Publications for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting...

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

# Title Authors Year
1
Effective hemostasis during minor surgery in a case of hereditary combined deficiency of vitamin K-dependent clotting factors. ( 19144654 )
2010
2
Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16. ( 12384421 )
2002

Variations for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting...

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GGCX NM_000821.6(GGCX): c.1181T> G (p.Leu394Arg) single nucleotide variant Pathogenic rs121909675 GRCh37 Chromosome 2, 85780168: 85780168
2 GGCX NM_000821.6(GGCX): c.1181T> G (p.Leu394Arg) single nucleotide variant Pathogenic rs121909675 GRCh38 Chromosome 2, 85553045: 85553045
3 GGCX NM_000821.6(GGCX): c.1502G> C (p.Trp501Ser) single nucleotide variant Pathogenic rs28928872 GRCh37 Chromosome 2, 85779042: 85779042
4 GGCX NM_000821.6(GGCX): c.1502G> C (p.Trp501Ser) single nucleotide variant Pathogenic rs28928872 GRCh38 Chromosome 2, 85551919: 85551919
5 GGCX NM_000821.6(GGCX): c.1454G> C (p.Arg485Pro) single nucleotide variant Pathogenic rs121909676 GRCh37 Chromosome 2, 85779090: 85779090
6 GGCX NM_000821.6(GGCX): c.1454G> C (p.Arg485Pro) single nucleotide variant Pathogenic rs121909676 GRCh38 Chromosome 2, 85551967: 85551967
7 GGCX NM_000821.6(GGCX): c.215-1G> T single nucleotide variant Pathogenic rs786205096 GRCh38 Chromosome 2, 85559076: 85559076
8 GGCX NM_000821.6(GGCX): c.215-1G> T single nucleotide variant Pathogenic rs786205096 GRCh37 Chromosome 2, 85786199: 85786199

Expression for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting...

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

Pathways for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting...

Pathways related to Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.32 GGCX VKORC1
2 9.8 GGCX VKORC1

GO Terms for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting...

Cellular components related to Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.62 GGCX VKORC1

Biological processes related to Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 8.96 GGCX VKORC1
2 peptidyl-glutamic acid carboxylation GO:0017187 8.62 GGCX VKORC1

Sources for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting...

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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