VKCFD
MCID: HRD160
MIFTS: 25

Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors (VKCFD)

Categories: Blood diseases, Genetic diseases, Metabolic 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 12 58
Hereditary Combined Deficiency of Factors Ii, Vii, Ix and X 12 58
Vkcfd 12

Characteristics:

Orphanet epidemiological data:

58
hereditary combined deficiency of vitamin k-dependent clotting factors
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0112172
SNOMED-CT 67 724356003
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 71 C1848534
Orphanet 58 ORPHA98434
UMLS 70 C4510617

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

Disease Ontology : 12 A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has material basis in a heritable mutation.

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 coumarin resistance and vitamin k deficiency bleeding. 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 Biosynthesis of cofactors 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 coumarin resistance 30.0 VKORC1 GGCX
2 vitamin k deficiency bleeding 29.5 VKORC1 GGCX
3 vitamin k-dependent clotting factors, combined deficiency of, 2 11.6
4 vitamin k-dependent clotting factors, combined deficiency of, 1 11.6
5 rare hemorrhagic disorder 10.5
6 angioid streaks 9.7 VKORC1 GGCX
7 pseudoxanthoma elasticum 9.6 VKORC1 GGCX
8 osteoporosis 9.5 VKORC1 GGCX

Graphical network of the top 20 diseases related to Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors:



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

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 PMID Year
1
Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors. 6
15287948 2004
2
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 6
14765194 2004
3
Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex. 6
11154138 2000
4
Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors. 6
11071668 2000
5
Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase. 6
10934213 2000
6
A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors. 6
9845520 1998
7
Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. 6
2145029 1990
8
Effective hemostasis during minor surgery in a case of hereditary combined deficiency of vitamin K-dependent clotting factors. 61
19144654 2010
9
Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16. 61
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 (show top 50) (show all 211)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GGCX NM_000821.7(GGCX):c.1181T>G (p.Leu394Arg) SNV Pathogenic 16194 rs121909675 GRCh37: 2:85780168-85780168
GRCh38: 2:85553045-85553045
2 GGCX NM_000821.7(GGCX):c.1502G>C (p.Trp501Ser) SNV Pathogenic 16195 rs28928872 GRCh37: 2:85779042-85779042
GRCh38: 2:85551919-85551919
3 GGCX NM_000821.7(GGCX):c.1454G>C (p.Arg485Pro) SNV Pathogenic 16197 rs121909676 GRCh37: 2:85779090-85779090
GRCh38: 2:85551967-85551967
4 GGCX NM_000821.7(GGCX):c.215-1G>T SNV Pathogenic 16198 rs786205096 GRCh37: 2:85786199-85786199
GRCh38: 2:85559076-85559076
5 VKORC1 NM_024006.6(VKORC1):c.292C>T (p.Arg98Trp) SNV Pathogenic 2206 rs72547528 GRCh37: 16:31102655-31102655
GRCh38: 16:31091334-31091334
6 GGCX NM_000821.7(GGCX):c.773G>A (p.Gly258Asp) SNV Likely pathogenic 992373 GRCh37: 2:85781382-85781382
GRCh38: 2:85554259-85554259
7 GGCX NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter) SNV Likely pathogenic 992374 GRCh37: 2:85777775-85777775
GRCh38: 2:85550652-85550652
8 GGCX NM_000821.7(GGCX):c.57A>T (p.Lys19Asn) SNV Uncertain significance 896545 GRCh37: 2:85788095-85788095
GRCh38: 2:85560972-85560972
9 GGCX NM_000821.7(GGCX):c.26G>A (p.Arg9Gln) SNV Uncertain significance 896546 GRCh37: 2:85788526-85788526
GRCh38: 2:85561403-85561403
10 VKORC1 NM_024006.6(VKORC1):c.*245G>A SNV Uncertain significance 318973 rs886051932 GRCh37: 16:31102210-31102210
GRCh38: 16:31090889-31090889
11 GGCX , MAT2A NM_000821.7(GGCX):c.*4798G>A SNV Uncertain significance 898901 GRCh37: 2:85772259-85772259
GRCh38: 2:85545136-85545136
12 GGCX NM_000821.7(GGCX):c.*3841T>A SNV Uncertain significance 898974 GRCh37: 2:85773216-85773216
GRCh38: 2:85546093-85546093
13 GGCX NM_000821.7(GGCX):c.*3770T>C SNV Uncertain significance 898975 GRCh37: 2:85773287-85773287
GRCh38: 2:85546164-85546164
14 GGCX NM_000821.7(GGCX):c.*3756A>G SNV Uncertain significance 898976 GRCh37: 2:85773301-85773301
GRCh38: 2:85546178-85546178
15 GGCX NM_000821.7(GGCX):c.*3703C>T SNV Uncertain significance 898977 GRCh37: 2:85773354-85773354
GRCh38: 2:85546231-85546231
16 GGCX NM_000821.7(GGCX):c.745C>T (p.Leu249=) SNV Uncertain significance 899224 GRCh37: 2:85781410-85781410
GRCh38: 2:85554287-85554287
17 GGCX NM_000821.7(GGCX):c.654G>A (p.Lys218=) SNV Uncertain significance 899225 GRCh37: 2:85782678-85782678
GRCh38: 2:85555555-85555555
18 GGCX NM_000821.7(GGCX):c.614G>A (p.Gly205Asp) SNV Uncertain significance 899226 GRCh37: 2:85783309-85783309
GRCh38: 2:85556186-85556186
19 VKORC1 NM_024006.6(VKORC1):c.*172T>A SNV Uncertain significance 887421 GRCh37: 16:31102283-31102283
GRCh38: 16:31090962-31090962
20 VKORC1 NM_024006.6(VKORC1):c.*10C>G SNV Uncertain significance 887422 GRCh37: 16:31102445-31102445
GRCh38: 16:31091124-31091124
21 VKORC1 NM_024006.6(VKORC1):c.447T>C (p.Ser149=) SNV Uncertain significance 887423 GRCh37: 16:31102500-31102500
GRCh38: 16:31091179-31091179
22 VKORC1 NM_024006.6(VKORC1):c.379G>A (p.Val127Met) SNV Uncertain significance 887424 GRCh37: 16:31102568-31102568
GRCh38: 16:31091247-31091247
23 GGCX NM_000821.7(GGCX):c.1815C>G (p.Asn605Lys) SNV Uncertain significance 899167 GRCh37: 2:85778121-85778121
GRCh38: 2:85550998-85550998
24 GGCX NM_000821.7(GGCX):c.1994G>A (p.Arg665Lys) SNV Uncertain significance 899166 GRCh37: 2:85777768-85777768
GRCh38: 2:85550645-85550645
25 GGCX NM_000821.7(GGCX):c.2119A>C (p.Ile707Leu) SNV Uncertain significance 899165 GRCh37: 2:85777215-85777215
GRCh38: 2:85550092-85550092
26 GGCX NM_000821.7(GGCX):c.2254G>C (p.Asp752His) SNV Uncertain significance 899164 GRCh37: 2:85777080-85777080
GRCh38: 2:85549957-85549957
27 GGCX NM_000821.7(GGCX):c.*1712A>C SNV Uncertain significance 896361 GRCh37: 2:85775345-85775345
GRCh38: 2:85548222-85548222
28 GGCX NM_000821.7(GGCX):c.*1725C>A SNV Uncertain significance 896360 GRCh37: 2:85775332-85775332
GRCh38: 2:85548209-85548209
29 GGCX NM_000821.7(GGCX):c.*1727A>G SNV Uncertain significance 896359 GRCh37: 2:85775330-85775330
GRCh38: 2:85548207-85548207
30 VKORC1 NM_024006.6(VKORC1):c.267A>T (p.Thr89=) SNV Uncertain significance 318976 rs200133418 GRCh37: 16:31104649-31104649
GRCh38: 16:31093328-31093328
31 GGCX NM_000821.7(GGCX):c.269G>A (p.Arg90Gln) SNV Uncertain significance 895111 GRCh37: 2:85786144-85786144
GRCh38: 2:85559021-85559021
32 GGCX NM_000821.7(GGCX):c.271A>C (p.Lys91Gln) SNV Uncertain significance 895110 GRCh37: 2:85786142-85786142
GRCh38: 2:85559019-85559019
33 VKORC1 NM_024006.6(VKORC1):c.173+11G>T SNV Uncertain significance 887602 GRCh37: 16:31105867-31105867
GRCh38: 16:31094546-31094546
34 VKORC1 NM_024006.6(VKORC1):c.202C>T (p.His68Tyr) SNV Uncertain significance 887601 GRCh37: 16:31104714-31104714
GRCh38: 16:31093393-31093393
35 VKORC1 NM_024006.6(VKORC1):c.-45G>A SNV Uncertain significance 884455 GRCh37: 16:31106095-31106095
GRCh38: 16:31094774-31094774
36 VKORC1 NM_024006.6(VKORC1):c.-2T>C SNV Uncertain significance 884454 GRCh37: 16:31106052-31106052
GRCh38: 16:31094731-31094731
37 VKORC1 NM_024006.6(VKORC1):c.54G>T (p.Thr18=) SNV Uncertain significance 884453 GRCh37: 16:31105997-31105997
GRCh38: 16:31094676-31094676
38 VKORC1 NM_024006.6(VKORC1):c.342C>G (p.Leu114=) SNV Uncertain significance 887599 GRCh37: 16:31102605-31102605
GRCh38: 16:31091284-31091284
39 VKORC1 NM_024006.6(VKORC1):c.117C>T (p.Tyr39=) SNV Uncertain significance 884452 GRCh37: 16:31105934-31105934
GRCh38: 16:31094613-31094613
40 GGCX NM_000821.7(GGCX):c.849G>C (p.Val283=) SNV Uncertain significance 337269 rs149603998 GRCh37: 2:85781306-85781306
GRCh38: 2:85554183-85554183
41 GGCX NM_000821.7(GGCX):c.*4215G>A SNV Uncertain significance 337183 rs886056358 GRCh37: 2:85772842-85772842
GRCh38: 2:85545719-85545719
42 GGCX NM_000821.7(GGCX):c.*270T>G SNV Uncertain significance 337249 rs886056377 GRCh37: 2:85776787-85776787
GRCh38: 2:85549664-85549664
43 GGCX NM_000821.7(GGCX):c.*3924A>G SNV Uncertain significance 337186 rs886056359 GRCh37: 2:85773133-85773133
GRCh38: 2:85546010-85546010
44 GGCX NM_000821.7(GGCX):c.*2560A>G SNV Uncertain significance 337215 rs886056366 GRCh37: 2:85774497-85774497
GRCh38: 2:85547374-85547374
45 GGCX NM_000821.7(GGCX):c.*2304T>C SNV Uncertain significance 337218 rs886056367 GRCh37: 2:85774753-85774753
GRCh38: 2:85547630-85547630
46 GGCX NM_000821.7(GGCX):c.159C>A (p.Thr53=) SNV Uncertain significance 337278 rs61733104 GRCh37: 2:85787993-85787993
GRCh38: 2:85560870-85560870
47 GGCX NM_000821.7(GGCX):c.24G>A (p.Ala8=) SNV Uncertain significance 337281 rs371622780 GRCh37: 2:85788528-85788528
GRCh38: 2:85561405-85561405
48 GGCX NM_000821.7(GGCX):c.*106T>G SNV Uncertain significance 337255 rs530539627 GRCh37: 2:85776951-85776951
GRCh38: 2:85549828-85549828
49 GGCX NM_000821.7(GGCX):c.1107C>T (p.Leu369=) SNV Uncertain significance 337267 rs145056129 GRCh37: 2:85780403-85780403
GRCh38: 2:85553280-85553280
50 GGCX NM_000821.7(GGCX):c.-53C>T SNV Uncertain significance 337284 rs886056381 GRCh37: 2:85788604-85788604
GRCh38: 2:85561481-85561481

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
11.18 VKORC1 GGCX
2 9.8 VKORC1 GGCX

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 VKORC1 GGCX

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 VKORC1 GGCX
2 peptidyl-glutamic acid carboxylation GO:0017187 8.62 VKORC1 GGCX

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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