MCID: FCT034
MIFTS: 36

Factor V and Factor Viii, Combined Deficiency of, 2

Categories: Genetic diseases, Blood 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 57 29 6 73
Factor V and Factor Viii, Combined Deficiency of 57 13 73
F5f8d2 57 75
F5f8d 59 55
Deficiency, Combined, Factor V and Factor Viii, Type 2 40
Combined Deficiency of Factor V and Factor Viii 59
Familial Multiple Coagulation Factor Deficiency 59
Factor V and Factor Viii Combined Deficiency 2 75
Multiple Coagulation Factor Deficiency 2 75
Fv and Fviii Combined Deficiency 59
Mcfd2 75

Characteristics:

Orphanet epidemiological data:

59
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:

32
factor v and factor viii, combined deficiency of, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613625
Orphanet 59 ORPHA35909
ICD10 via Orphanet 34 D68.8
UMLS via Orphanet 74 C1856883
MedGen 42 C3150889
MeSH 44 D025861

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

OMIM : 57 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 menorrhagia and epistaxis

UniProtKB/Swiss-Prot : 75 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

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

Clinical features from OMIM:

613625

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

32
# Description HPO Frequency HPO Source Accession
1 menorrhagia 32 HP:0000132
2 epistaxis 32 HP:0000421
3 persistent bleeding after trauma 32 HP:0001934
4 reduced factor viii activity 32 HP:0003125
5 reduced coagulation factor v activity 32 HP:0003225

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 29 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:

41
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:

75
# 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 top 50) (show all 257)
# 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 MCFD2, 1-BP DEL, 103C deletion Pathogenic
6 MCFD2 MCFD2, 1-BP DEL, 249T deletion Pathogenic
7 MCFD2 MCFD2, 8-BP DEL, NT263 deletion Pathogenic
8 MCFD2 NM_001171507.2(MCFD2): c.387C> G (p.Asp129Glu) single nucleotide variant Pathogenic rs137852913 GRCh37 Chromosome 2, 47132656: 47132656
9 MCFD2 NM_001171507.2(MCFD2): c.387C> G (p.Asp129Glu) single nucleotide variant Pathogenic rs137852913 GRCh38 Chromosome 2, 46905517: 46905517
10 MCFD2 NM_001171507.2(MCFD2): c.407T> C (p.Ile136Thr) single nucleotide variant Pathogenic rs137852914 GRCh37 Chromosome 2, 47132636: 47132636
11 MCFD2 NM_001171507.2(MCFD2): c.407T> C (p.Ile136Thr) single nucleotide variant Pathogenic rs137852914 GRCh38 Chromosome 2, 46905497: 46905497
12 MCFD2 NM_001171507.2(MCFD2): c.241G> T (p.Asp81Tyr) single nucleotide variant Pathogenic rs78289603 GRCh37 Chromosome 2, 47135017: 47135017
13 MCFD2 NM_001171507.2(MCFD2): c.241G> T (p.Asp81Tyr) single nucleotide variant Pathogenic rs78289603 GRCh38 Chromosome 2, 46907878: 46907878
14 LMAN1 NM_005570.3(LMAN1): c.89dupG (p.Asp31Argfs) duplication Pathogenic rs869312030 GRCh38 Chromosome 18, 59359156: 59359156
15 LMAN1 NM_005570.3(LMAN1): c.89dupG (p.Asp31Argfs) duplication Pathogenic rs869312030 GRCh37 Chromosome 18, 57026388: 57026388
16 LMAN1 NM_005570.3(LMAN1): c.1149+2T> C single nucleotide variant Pathogenic rs869312031 GRCh38 Chromosome 18, 59338758: 59338758
17 LMAN1 NM_005570.3(LMAN1): c.1149+2T> C single nucleotide variant Pathogenic rs869312031 GRCh37 Chromosome 18, 57005990: 57005990
18 LMAN1 NM_005570.3(LMAN1): c.796delC (p.Gln266Serfs) deletion Pathogenic rs869312032 GRCh38 Chromosome 18, 59347539: 59347539
19 LMAN1 NM_005570.3(LMAN1): c.796delC (p.Gln266Serfs) deletion Pathogenic rs869312032 GRCh37 Chromosome 18, 57014771: 57014771
20 LMAN1 NM_005570.3(LMAN1): c.1356delC (p.Leu453Terfs) deletion Pathogenic rs869312033 GRCh38 Chromosome 18, 59333109: 59333109
21 LMAN1 NM_005570.3(LMAN1): c.1356delC (p.Leu453Terfs) deletion Pathogenic rs869312033 GRCh37 Chromosome 18, 57000341: 57000341
22 LMAN1 NM_005570.3(LMAN1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121909253 GRCh37 Chromosome 18, 57026475: 57026475
23 LMAN1 NM_005570.3(LMAN1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121909253 GRCh38 Chromosome 18, 59359243: 59359243
24 LMAN1 NM_005570.3(LMAN1): c.1228A> T (p.Met410Leu) single nucleotide variant Likely benign rs2298711 GRCh37 Chromosome 18, 57000469: 57000469
25 LMAN1 NM_005570.3(LMAN1): c.1228A> T (p.Met410Leu) single nucleotide variant Likely benign rs2298711 GRCh38 Chromosome 18, 59333237: 59333237
26 LMAN1 NM_005570.3(LMAN1): c.539+11_539+12delGT deletion Likely benign rs3835325 GRCh37 Chromosome 18, 57021739: 57021740
27 LMAN1 NM_005570.3(LMAN1): c.539+11_539+12delGT deletion Likely benign rs3835325 GRCh38 Chromosome 18, 59354507: 59354508
28 LMAN1 NM_005570.3(LMAN1): c.351A> G (p.Arg117=) single nucleotide variant Likely benign rs1127220 GRCh38 Chromosome 18, 59355522: 59355522
29 LMAN1 NM_005570.3(LMAN1): c.351A> G (p.Arg117=) single nucleotide variant Likely benign rs1127220 GRCh37 Chromosome 18, 57022754: 57022754
30 LMAN1 NM_005570.3(LMAN1): c.116T> C (p.Val39Ala) single nucleotide variant Likely benign rs33926449 GRCh38 Chromosome 18, 59359129: 59359129
31 LMAN1 NM_005570.3(LMAN1): c.116T> C (p.Val39Ala) single nucleotide variant Likely benign rs33926449 GRCh37 Chromosome 18, 57026361: 57026361
32 MCFD2 NM_139279.5(MCFD2): c.*3099G> A single nucleotide variant Uncertain significance rs886056106 GRCh37 Chromosome 2, 47129503: 47129503
33 MCFD2 NM_139279.5(MCFD2): c.*3099G> A single nucleotide variant Uncertain significance rs886056106 GRCh38 Chromosome 2, 46902364: 46902364
34 MCFD2 NM_139279.5(MCFD2): c.*2848C> T single nucleotide variant Uncertain significance rs142254354 GRCh37 Chromosome 2, 47129754: 47129754
35 MCFD2 NM_139279.5(MCFD2): c.*2848C> T single nucleotide variant Uncertain significance rs142254354 GRCh38 Chromosome 2, 46902615: 46902615
36 MCFD2 NM_139279.5(MCFD2): c.*2675C> G single nucleotide variant Likely benign rs17035884 GRCh37 Chromosome 2, 47129927: 47129927
37 MCFD2 NM_139279.5(MCFD2): c.*2675C> G single nucleotide variant Likely benign rs17035884 GRCh38 Chromosome 2, 46902788: 46902788
38 MCFD2 NM_139279.5(MCFD2): c.*2163A> G single nucleotide variant Likely benign rs140937815 GRCh37 Chromosome 2, 47130439: 47130439
39 MCFD2 NM_139279.5(MCFD2): c.*2163A> G single nucleotide variant Likely benign rs140937815 GRCh38 Chromosome 2, 46903300: 46903300
40 MCFD2 NM_139279.5(MCFD2): c.*1924T> C single nucleotide variant Likely benign rs6715391 GRCh38 Chromosome 2, 46903539: 46903539
41 MCFD2 NM_139279.5(MCFD2): c.*1924T> C single nucleotide variant Likely benign rs6715391 GRCh37 Chromosome 2, 47130678: 47130678
42 MCFD2 NM_139279.5(MCFD2): c.*1908G> C single nucleotide variant Likely benign rs6743994 GRCh38 Chromosome 2, 46903555: 46903555
43 MCFD2 NM_139279.5(MCFD2): c.*1908G> C single nucleotide variant Likely benign rs6743994 GRCh37 Chromosome 2, 47130694: 47130694
44 MCFD2 NM_139279.5(MCFD2): c.*1677T> G single nucleotide variant Likely benign rs28770495 GRCh38 Chromosome 2, 46903786: 46903786
45 MCFD2 NM_139279.5(MCFD2): c.*1677T> G single nucleotide variant Likely benign rs28770495 GRCh37 Chromosome 2, 47130925: 47130925
46 MCFD2 NM_139279.5(MCFD2): c.*1346G> T single nucleotide variant Likely benign rs111535939 GRCh38 Chromosome 2, 46904117: 46904117
47 MCFD2 NM_139279.5(MCFD2): c.*1346G> T single nucleotide variant Likely benign rs111535939 GRCh37 Chromosome 2, 47131256: 47131256
48 MCFD2 NM_139279.5(MCFD2): c.*1314C> T single nucleotide variant Uncertain significance rs150644996 GRCh38 Chromosome 2, 46904149: 46904149
49 MCFD2 NM_139279.5(MCFD2): c.*1314C> T single nucleotide variant Uncertain significance rs150644996 GRCh37 Chromosome 2, 47131288: 47131288
50 MCFD2 NM_139279.5(MCFD2): c.*892G> A single nucleotide variant Uncertain significance rs886056114 GRCh38 Chromosome 2, 46904571: 46904571

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-Golgi intermediate compartment GO:0005793 9.37 LMAN1 MCFD2
3 platelet alpha granule lumen GO:0031093 9.32 F5 F8
4 ER to Golgi transport vesicle membrane GO:0012507 9.26 LMAN1 MCFD2
5 COPII-coated ER to Golgi transport vesicle GO:0030134 9.13 F5 F8 LMAN1
6 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 9.4 LMAN1 MCFD2
2 platelet degranulation GO:0002576 9.37 F5 F8
3 blood coagulation GO:0007596 9.33 F5 F8 LMAN1
4 hemostasis GO:0007599 9.32 F5 F8
5 protein N-linked glycosylation via asparagine GO:0018279 9.26 LMAN1 MCFD2
6 ER to Golgi vesicle-mediated transport GO:0006888 9.26 F5 F8 LMAN1 MCFD2
7 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
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17 ExPASy
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74 UMLS via Orphanet
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