MCID: VTM009
MIFTS: 21

Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

MalaCards integrated aliases for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1:

Name: Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 57 29 6 73
Multiple Coagulation Factor Deficiency Iii 57 75
Vitamin K-Dependent Coagulation Defect 57 13
Vkcfd1 57 75
Mcfd3 57 75
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, Type 1 40
Combined Deficiency of Vitamin K-Dependent Clotting Factors 1 75
Familial Multiple Coagulation Factor Deficiency Iii 57
Factors Ii, Vii, Ix, and X, Combined Deficiency of 57
Multiple Coagulation Factor Deficiency Iii; Mcfd3 57
Glutamic Acid, Deficient Gamma-Carboxylation of 57
Fmfd Iii 57
Vkcfd 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
vitamin k-dependent clotting factors, combined deficiency of, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

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. Acquired forms of the disorder can be caused by intestinal malabsorption 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. The pathomechanism is based on a reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors, as well as the anticoagulant factors protein C (612283) and protein S (176880). Posttranslational gamma-carboxylation of proteins enables the calcium-dependent attachment of the proteins to the phospholipid bilayer of membranes, an essential prerequisite for blood coagulation. Vitamin K1 acts as a cofactor for the vitamin K-dependent carboxylase in liver microsomes, GGCX. (277450)

MalaCards based summary : Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1, also known as multiple coagulation factor deficiency iii, is related to vitamin k-dependent clotting factors, combined deficiency of, 2. An important gene associated with Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 is GGCX (Gamma-Glutamyl Carboxylase). Affiliated tissues include liver, and related phenotypes are short nose and abnormal bleeding

UniProtKB/Swiss-Prot : 75 Combined deficiency of vitamin K-dependent clotting factors 1: 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, 1

Diseases related to Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vitamin k-dependent clotting factors, combined deficiency of, 2 10.9

Symptoms & Phenotypes for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

Symptoms via clinical synopsis from OMIM:

57
Heme:
neonatal bleeding tendency

Nose:
nasal hypoplasia
epistaxis

Limbs:
distal phalangeal hypoplasia

Lab:
abnormal partial thromboplastin time
variably abnormal prothrombin time
deficiency of procoagulant factors ii, vii, ix, and x and natural anticoagulant proteins c and s
vitamin k-dependent gamma-carboxylation defect

Skin:
ecchymoses

Skel:
stippled epiphyses

Joints:
hemarthrosis


Clinical features from OMIM:

277450

Human phenotypes related to Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 short nose 32 HP:0003196
2 abnormal bleeding 32 HP:0001892
3 epiphyseal stippling 32 HP:0010655
4 epistaxis 32 HP:0000421
5 bruising susceptibility 32 HP:0000978
6 short distal phalanx of finger 32 HP:0009882
7 prolonged partial thromboplastin time 32 HP:0003645
8 joint hemorrhage 32 HP:0005261

Drugs & Therapeutics for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

Search Clinical Trials , NIH Clinical Center for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

Genetic Tests for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

Genetic tests related to Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1:

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

Anatomical Context for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

MalaCards organs/tissues related to Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1:

41
Liver

Publications for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

Variations for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

UniProtKB/Swiss-Prot genetic disease variations for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1:

75
# Symbol AA change Variation ID SNP ID
1 GGCX p.Leu394Arg VAR_005781 rs121909675
2 GGCX p.Trp501Ser VAR_015218 rs28928872
3 GGCX p.Arg485Pro VAR_021826 rs121909676

ClinVar genetic disease variations for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1:

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 Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

Search GEO for disease gene expression data for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1.

Pathways for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

GO Terms for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

Sources for Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

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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