F5F8D2
MCID: FCT034
MIFTS: 36

Factor V and Factor Viii, Combined Deficiency of, 2 (F5F8D2)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Factor V and Factor Viii, Combined Deficiency of, 2

MalaCards integrated aliases for Factor V and Factor Viii, Combined Deficiency of, 2:

Name: Factor V and Factor Viii, Combined Deficiency of, 2 58 30 6 74
Factor V and Factor Viii, Combined Deficiency of 58 13 74
F5f8d2 58 76
F5f8d 60 56
Deficiency, Combined, Factor V and Factor Viii, Type 2 41
Combined Deficiency of Factor V and Factor Viii 60
Familial Multiple Coagulation Factor Deficiency 60
Factor V and Factor Viii Combined Deficiency 2 76
Multiple Coagulation Factor Deficiency 2 76
Fv and Fviii Combined Deficiency 60
Mcfd2 76

Characteristics:

Orphanet epidemiological data:

60
combined deficiency of factor v and factor viii
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

HPO:

33
factor v and factor viii, combined deficiency of, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613625
MeSH 45 D025861
ICD10 via Orphanet 35 D68.8
UMLS via Orphanet 75 C1856883
Orphanet 60 ORPHA35909
MedGen 43 C3150889

Summaries for Factor V and Factor Viii, Combined Deficiency of, 2

OMIM : 58 Combined deficiency of factor V (612309) and factor VIII (300841) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004). (613625)

MalaCards based summary : Factor V and Factor Viii, Combined Deficiency of, 2, also known as factor v and factor viii, combined deficiency of, is related to hemophilia and factor viii deficiency. An important gene associated with Factor V and Factor Viii, Combined Deficiency of, 2 is MCFD2 (Multiple Coagulation Factor Deficiency 2), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Affiliated tissues include testes, and related phenotypes are epistaxis and menorrhagia

UniProtKB/Swiss-Prot : 76 Factor V and factor VIII combined deficiency 2: A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal.

Related Diseases for Factor V and Factor Viii, Combined Deficiency of, 2

Diseases related to Factor V and Factor Viii, Combined Deficiency of, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 hemophilia 31.1 F8 LMAN1 MCFD2
2 factor viii deficiency 29.3 F5 F8 LMAN1 MCFD2
3 factor v and factor viii, combined deficiency of, 1 12.7
4 factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor 12.7
5 vitamin k-dependent clotting factors, combined deficiency of, 1 12.0
6 factor vii and factor viii, combined deficiency of 11.7
7 factor viii and factor ix, combined deficiency of 11.7
8 factor ix and factor xi, combined deficiency of 11.7
9 factors viii, ix and xi, combined deficiency of 11.6
10 vitamin k-dependent clotting factors, combined deficiency of, 2 11.3
11 coumarin resistance 11.2
12 epidermodysplasia verruciformis 1 10.1
13 ichthyosis 10.1
14 ichthyosis, acquired 10.1
15 acquired hemophilia 9.9 F5 F8
16 acquired hemophilia a 9.9 F5 F8
17 hemophilia a 9.9 F5 F8
18 thrombophlebitis 9.8 F5 F8
19 factor xiii deficiency 9.8 F5 F8
20 carotid artery occlusion 9.8 F5 F8
21 post-thrombotic syndrome 9.8 F5 F8
22 intracranial thrombosis 9.8 F5 F8
23 thrombosis 9.8 F5 F8
24 retinal artery occlusion 9.8 F5 F8
25 vein disease 9.8 F5 F8
26 blood coagulation disease 9.8 F5 F8
27 thrombophilia 9.8 F5 F8
28 thrombophilia due to activated protein c resistance 9.7 F5 F8
29 afibrinogenemia 9.7 F5 F8
30 von willebrand's disease 9.7 F5 F8
31 thrombophilia due to thrombin defect 9.6 F5 F8
32 hemorrhagic disease 9.5 F5 F8
33 factor v deficiency 9.2 F5 F8 LMAN1 MCFD2

Graphical network of the top 20 diseases related to Factor V and Factor Viii, Combined Deficiency of, 2:



Diseases related to Factor V and Factor Viii, Combined Deficiency of, 2

Symptoms & Phenotypes for Factor V and Factor Viii, Combined Deficiency of, 2

Human phenotypes related to Factor V and Factor Viii, Combined Deficiency of, 2:

33
# Description HPO Frequency HPO Source Accession
1 epistaxis 33 HP:0000421
2 menorrhagia 33 HP:0000132
3 persistent bleeding after trauma 33 HP:0001934
4 reduced factor viii activity 33 HP:0003125
5 reduced coagulation factor v activity 33 HP:0003225

Clinical features from OMIM:

613625

Drugs & Therapeutics for Factor V and Factor Viii, Combined Deficiency of, 2

Search Clinical Trials , NIH Clinical Center for Factor V and Factor Viii, Combined Deficiency of, 2

Genetic Tests for Factor V and Factor Viii, Combined Deficiency of, 2

Genetic tests related to Factor V and Factor Viii, Combined Deficiency of, 2:

# Genetic test Affiliating Genes
1 Factor V and Factor Viii, Combined Deficiency of, 2 30 MCFD2

Anatomical Context for Factor V and Factor Viii, Combined Deficiency of, 2

MalaCards organs/tissues related to Factor V and Factor Viii, Combined Deficiency of, 2:

42
Testes

Publications for Factor V and Factor Viii, Combined Deficiency of, 2

Articles related to Factor V and Factor Viii, Combined Deficiency of, 2:

# Title Authors Year
1
Successful Pregnancy in a Patient with Combined Deficiency of Factor V and Factor VIII. ( 24883216 )
2014
2
Genotype and phenotype report on patients with combined deficiency of factor V and factor VIII in Iran. ( 24389588 )
2014
3
Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII. ( 20138881 )
2010
4
A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII. ( 19787799 )
2009
5
Response to the DDAVP test in a patient with combined deficiency of factor V and factor VIII. ( 19432931 )
2009
6
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. ( 18391077 )
2008
7
Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. ( 16304051 )
2006
8
Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII. ( 9531348 )
1998
9
Congenital combined deficiency of factor V and factor VIII with acquired ichthyosis, epidermodysplasia verruciformis, and immunological abnormalities. ( 1503092 )
1992
10
[Management of cesarean section under replacement therapy with factor VIII concentrates in a pregnant case with congenital combined deficiency of factor V and factor VIII]. ( 1942544 )
1991

Variations for Factor V and Factor Viii, Combined Deficiency of, 2

UniProtKB/Swiss-Prot genetic disease variations for Factor V and Factor Viii, Combined Deficiency of, 2:

76
# Symbol AA change Variation ID SNP ID
1 MCFD2 p.Asp129Glu VAR_019076 rs137852913
2 MCFD2 p.Ile136Thr VAR_019077 rs137852914
3 MCFD2 p.Asp81His VAR_072245 rs78289603
4 MCFD2 p.Tyr135Asn VAR_072246 rs748641905

ClinVar genetic disease variations for Factor V and Factor Viii, Combined Deficiency of, 2:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 MCFD2 NM_001171507.2(MCFD2): c.149+5G> A single nucleotide variant Pathogenic rs387906286 GRCh37 Chromosome 2, 47136157: 47136157
2 MCFD2 NM_001171507.2(MCFD2): c.149+5G> A single nucleotide variant Pathogenic rs387906286 GRCh38 Chromosome 2, 46909018: 46909018
3 MCFD2 NM_001171507.2(MCFD2): c.309+1G> A single nucleotide variant Pathogenic rs387906287 GRCh37 Chromosome 2, 47134948: 47134948
4 MCFD2 NM_001171507.2(MCFD2): c.309+1G> A single nucleotide variant Pathogenic rs387906287 GRCh38 Chromosome 2, 46907809: 46907809
5 MCFD2 NM_001171506.2(MCFD2): c.103del (p.Gln35Asnfs) deletion Pathogenic GRCh37 Chromosome 2, 47136208: 47136208
6 MCFD2 NM_001171506.2(MCFD2): c.103del (p.Gln35Asnfs) deletion Pathogenic GRCh38 Chromosome 2, 46909069: 46909069
7 MCFD2 NM_001171506.2(MCFD2): c.249del (p.Asp83Glufs) deletion Pathogenic GRCh38 Chromosome 2, 46907870: 46907870
8 MCFD2 NM_001171506.2(MCFD2): c.249del (p.Asp83Glufs) deletion Pathogenic GRCh37 Chromosome 2, 47135009: 47135009
9 MCFD2 NM_001171506.2(MCFD2): c.265_272del (p.Asp89Argfs) deletion Pathogenic GRCh38 Chromosome 2, 46907847: 46907854
10 MCFD2 NM_001171506.2(MCFD2): c.265_272del (p.Asp89Argfs) deletion Pathogenic GRCh37 Chromosome 2, 47134986: 47134993
11 MCFD2 NM_001171507.2(MCFD2): c.387C> G (p.Asp129Glu) single nucleotide variant Pathogenic rs137852913 GRCh37 Chromosome 2, 47132656: 47132656
12 MCFD2 NM_001171507.2(MCFD2): c.387C> G (p.Asp129Glu) single nucleotide variant Pathogenic rs137852913 GRCh38 Chromosome 2, 46905517: 46905517
13 MCFD2 NM_001171507.2(MCFD2): c.407T> C (p.Ile136Thr) single nucleotide variant Pathogenic rs137852914 GRCh37 Chromosome 2, 47132636: 47132636
14 MCFD2 NM_001171507.2(MCFD2): c.407T> C (p.Ile136Thr) single nucleotide variant Pathogenic rs137852914 GRCh38 Chromosome 2, 46905497: 46905497
15 MCFD2 NM_001171507.2(MCFD2): c.241G> T (p.Asp81Tyr) single nucleotide variant Pathogenic rs78289603 GRCh37 Chromosome 2, 47135017: 47135017
16 MCFD2 NM_001171507.2(MCFD2): c.241G> T (p.Asp81Tyr) single nucleotide variant Pathogenic rs78289603 GRCh38 Chromosome 2, 46907878: 46907878

Expression for Factor V and Factor Viii, Combined Deficiency of, 2

Search GEO for disease gene expression data for Factor V and Factor Viii, Combined Deficiency of, 2.

Pathways for Factor V and Factor Viii, Combined Deficiency of, 2

GO Terms for Factor V and Factor Viii, Combined Deficiency of, 2

Cellular components related to Factor V and Factor Viii, Combined Deficiency of, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.46 F5 F8 LMAN1 MCFD2
2 endoplasmic reticulum lumen GO:0005788 9.4 F5 F8
3 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 9.37 LMAN1 MCFD2
4 platelet alpha granule lumen GO:0031093 9.32 F5 F8
5 ER to Golgi transport vesicle membrane GO:0012507 9.26 LMAN1 MCFD2
6 COPII-coated ER to Golgi transport vesicle GO:0030134 9.13 F5 F8 LMAN1
7 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 8.92 F5 F8 LMAN1 MCFD2

Biological processes related to Factor V and Factor Viii, Combined Deficiency of, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.37 LMAN1 MCFD2
2 blood coagulation GO:0007596 9.33 F5 F8 LMAN1
3 platelet degranulation GO:0002576 9.32 F5 F8
4 hemostasis GO:0007599 9.26 F5 F8
5 ER to Golgi vesicle-mediated transport GO:0006888 9.26 F5 F8 LMAN1 MCFD2
6 COPII vesicle coating GO:0048208 8.92 F5 F8 LMAN1 MCFD2

Molecular functions related to Factor V and Factor Viii, Combined Deficiency of, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.26 F5 F8 LMAN1 MCFD2
2 copper ion binding GO:0005507 8.62 F5 F8

Sources for Factor V and Factor Viii, Combined Deficiency of, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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