MCID: FCT029
MIFTS: 22

Factor V and Factor Viii, Combined Deficiency of, 1

Categories: Genetic diseases

Aliases & Classifications for Factor V and Factor Viii, Combined Deficiency of, 1

MalaCards integrated aliases for Factor V and Factor Viii, Combined Deficiency of, 1:

Name: Factor V and Factor Viii, Combined Deficiency of, 1 57
Combined Deficiency of Factor V and Factor Viii, 1 29 6
Familial Multiple Coagulation Factor Deficiency I 57 75
Multiple Coagulation Factor Deficiency I 57 75
Combined Factor V and Viii Deficiency 57 13
F5f8d1 57 75
Fmfd I 57 75
Fmfd1 57 75
Mcfd1 57 75
Familial Multiple Coagulation Factor Deficiency I; Fmfd1 57
Deficiency, Combined, Factor V and Factor Viii, Type 1 40
Factor V and Factor Viii, Combined Deficiency of 73
Multiple Coagulation Factor Deficiency I; Mcfd1 57
Factor V and Factor Viii Combined Deficiency 1 75
Combined Deficiency of Factors V and Viii 37
Multiple Coagulation Factor Deficiency 1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
factor v and factor viii, combined deficiency of, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 227300
MedGen 42 C1856883
MeSH 44 D025861
KEGG 37 H00221
UMLS 73 C1856883

Summaries for Factor V and Factor Viii, Combined Deficiency of, 1

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). (227300)

MalaCards based summary : Factor V and Factor Viii, Combined Deficiency of, 1, is also known as combined deficiency of factor v and factor viii, 1. An important gene associated with Factor V and Factor Viii, Combined Deficiency of, 1 is LMAN1 (Lectin, Mannose Binding 1), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. Affiliated tissues include bone, and related phenotypes are abnormal bleeding and reduced factor viii activity

UniProtKB/Swiss-Prot : 75 Factor V and factor VIII combined deficiency 1: 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, 1

Symptoms & Phenotypes for Factor V and Factor Viii, Combined Deficiency of, 1

Symptoms via clinical synopsis from OMIM:

57
Heme:
bleeding diathesis

Lab:
factor v deficiency
factor viii deficiency


Clinical features from OMIM:

227300

Human phenotypes related to Factor V and Factor Viii, Combined Deficiency of, 1:

32
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 32 HP:0001892
2 reduced factor viii activity 32 HP:0003125
3 reduced coagulation factor v activity 32 HP:0003225

Drugs & Therapeutics for Factor V and Factor Viii, Combined Deficiency of, 1

Search Clinical Trials , NIH Clinical Center for Factor V and Factor Viii, Combined Deficiency of, 1

Genetic Tests for Factor V and Factor Viii, Combined Deficiency of, 1

Genetic tests related to Factor V and Factor Viii, Combined Deficiency of, 1:

# Genetic test Affiliating Genes
1 Combined Deficiency of Factor V and Factor Viii, 1 29 LMAN1

Anatomical Context for Factor V and Factor Viii, Combined Deficiency of, 1

MalaCards organs/tissues related to Factor V and Factor Viii, Combined Deficiency of, 1:

41
Bone

Publications for Factor V and Factor Viii, Combined Deficiency of, 1

Articles related to Factor V and Factor Viii, Combined Deficiency of, 1:

(show all 14)
# Title Authors Year
1
Combined factor V and VIII deficiency in a young woman with abundant bleeding after tooth extraction. ( 27104197 )
2016
2
Combined factor V and VIII deficiency and pregnancy--need for an early protocol-based multidisciplinary management. ( 24161289 )
2013
3
Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency. ( 22535353 )
2012
4
Combined factor V and VIII deficiency and pregnancy. ( 23073620 )
2012
5
Clinical manifestations of combined factor V and VIII deficiency: a series of 37 cases from a single center in India. ( 20575023 )
2010
6
Successful Use of Factor VIII Concentrate and Fresh Frozen Plasma for Four Dental Extractions in an Individual with Combined Factor V and VIII Deficiency. ( 20823995 )
2009
7
Reduced bone density in individuals with combined factor V and VIII deficiency. ( 17498088 )
2007
8
Combined factors V and VIII deficiency (F5F8D) in a Chinese family due to compound heterozygosity for nonsense mutations of the LMAN1 gene. ( 17910641 )
2007
9
Combined factor V and VIII deficiency: a new family and their haemorrhagic manifestations. ( 16476092 )
2006
10
Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran. ( 15086326 )
2004
11
Combined factor V and VIII deficiency in Indian population. ( 11012693 )
2000
12
ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. ( 10090935 )
1999
13
Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. ( 9045860 )
1997
14
Decreased factor VIII clotting antigen levels in the combined factor V and VIII deficiency. ( 6420932 )
1984

Variations for Factor V and Factor Viii, Combined Deficiency of, 1

UniProtKB/Swiss-Prot genetic disease variations for Factor V and Factor Viii, Combined Deficiency of, 1:

75
# Symbol AA change Variation ID SNP ID
1 LMAN1 p.Trp67Ser VAR_071969

ClinVar genetic disease variations for Factor V and Factor Viii, Combined Deficiency of, 1:

6
(show top 50) (show all 244)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMAN1 NM_005570.3(LMAN1): c.89dupG (p.Asp31Argfs) duplication Pathogenic rs869312030 GRCh38 Chromosome 18, 59359156: 59359156
2 LMAN1 NM_005570.3(LMAN1): c.89dupG (p.Asp31Argfs) duplication Pathogenic rs869312030 GRCh37 Chromosome 18, 57026388: 57026388
3 LMAN1 NM_005570.3(LMAN1): c.1149+2T> C single nucleotide variant Pathogenic rs869312031 GRCh38 Chromosome 18, 59338758: 59338758
4 LMAN1 NM_005570.3(LMAN1): c.1149+2T> C single nucleotide variant Pathogenic rs869312031 GRCh37 Chromosome 18, 57005990: 57005990
5 LMAN1 NM_005570.3(LMAN1): c.796delC (p.Gln266Serfs) deletion Pathogenic rs869312032 GRCh38 Chromosome 18, 59347539: 59347539
6 LMAN1 NM_005570.3(LMAN1): c.796delC (p.Gln266Serfs) deletion Pathogenic rs869312032 GRCh37 Chromosome 18, 57014771: 57014771
7 LMAN1 NM_005570.3(LMAN1): c.1356delC (p.Leu453Terfs) deletion Pathogenic rs869312033 GRCh38 Chromosome 18, 59333109: 59333109
8 LMAN1 NM_005570.3(LMAN1): c.1356delC (p.Leu453Terfs) deletion Pathogenic rs869312033 GRCh37 Chromosome 18, 57000341: 57000341
9 LMAN1 NM_005570.3(LMAN1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121909253 GRCh37 Chromosome 18, 57026475: 57026475
10 LMAN1 NM_005570.3(LMAN1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121909253 GRCh38 Chromosome 18, 59359243: 59359243
11 LMAN1 NM_005570.3(LMAN1): c.1228A> T (p.Met410Leu) single nucleotide variant Likely benign rs2298711 GRCh37 Chromosome 18, 57000469: 57000469
12 LMAN1 NM_005570.3(LMAN1): c.1228A> T (p.Met410Leu) single nucleotide variant Likely benign rs2298711 GRCh38 Chromosome 18, 59333237: 59333237
13 LMAN1 NM_005570.3(LMAN1): c.539+11_539+12delGT deletion Likely benign rs3835325 GRCh37 Chromosome 18, 57021739: 57021740
14 LMAN1 NM_005570.3(LMAN1): c.539+11_539+12delGT deletion Likely benign rs3835325 GRCh38 Chromosome 18, 59354507: 59354508
15 LMAN1 NM_005570.3(LMAN1): c.351A> G (p.Arg117=) single nucleotide variant Likely benign rs1127220 GRCh38 Chromosome 18, 59355522: 59355522
16 LMAN1 NM_005570.3(LMAN1): c.351A> G (p.Arg117=) single nucleotide variant Likely benign rs1127220 GRCh37 Chromosome 18, 57022754: 57022754
17 LMAN1 NM_005570.3(LMAN1): c.116T> C (p.Val39Ala) single nucleotide variant Likely benign rs33926449 GRCh38 Chromosome 18, 59359129: 59359129
18 LMAN1 NM_005570.3(LMAN1): c.116T> C (p.Val39Ala) single nucleotide variant Likely benign rs33926449 GRCh37 Chromosome 18, 57026361: 57026361
19 MCFD2 NM_139279.5(MCFD2): c.*3099G> A single nucleotide variant Uncertain significance rs886056106 GRCh37 Chromosome 2, 47129503: 47129503
20 MCFD2 NM_139279.5(MCFD2): c.*3099G> A single nucleotide variant Uncertain significance rs886056106 GRCh38 Chromosome 2, 46902364: 46902364
21 MCFD2 NM_139279.5(MCFD2): c.*2848C> T single nucleotide variant Uncertain significance rs142254354 GRCh37 Chromosome 2, 47129754: 47129754
22 MCFD2 NM_139279.5(MCFD2): c.*2848C> T single nucleotide variant Uncertain significance rs142254354 GRCh38 Chromosome 2, 46902615: 46902615
23 MCFD2 NM_139279.5(MCFD2): c.*2675C> G single nucleotide variant Likely benign rs17035884 GRCh37 Chromosome 2, 47129927: 47129927
24 MCFD2 NM_139279.5(MCFD2): c.*2675C> G single nucleotide variant Likely benign rs17035884 GRCh38 Chromosome 2, 46902788: 46902788
25 MCFD2 NM_139279.5(MCFD2): c.*2163A> G single nucleotide variant Likely benign rs140937815 GRCh37 Chromosome 2, 47130439: 47130439
26 MCFD2 NM_139279.5(MCFD2): c.*2163A> G single nucleotide variant Likely benign rs140937815 GRCh38 Chromosome 2, 46903300: 46903300
27 MCFD2 NM_139279.5(MCFD2): c.*1924T> C single nucleotide variant Likely benign rs6715391 GRCh38 Chromosome 2, 46903539: 46903539
28 MCFD2 NM_139279.5(MCFD2): c.*1924T> C single nucleotide variant Likely benign rs6715391 GRCh37 Chromosome 2, 47130678: 47130678
29 MCFD2 NM_139279.5(MCFD2): c.*1908G> C single nucleotide variant Likely benign rs6743994 GRCh38 Chromosome 2, 46903555: 46903555
30 MCFD2 NM_139279.5(MCFD2): c.*1908G> C single nucleotide variant Likely benign rs6743994 GRCh37 Chromosome 2, 47130694: 47130694
31 MCFD2 NM_139279.5(MCFD2): c.*1677T> G single nucleotide variant Likely benign rs28770495 GRCh38 Chromosome 2, 46903786: 46903786
32 MCFD2 NM_139279.5(MCFD2): c.*1677T> G single nucleotide variant Likely benign rs28770495 GRCh37 Chromosome 2, 47130925: 47130925
33 MCFD2 NM_139279.5(MCFD2): c.*1346G> T single nucleotide variant Likely benign rs111535939 GRCh38 Chromosome 2, 46904117: 46904117
34 MCFD2 NM_139279.5(MCFD2): c.*1346G> T single nucleotide variant Likely benign rs111535939 GRCh37 Chromosome 2, 47131256: 47131256
35 MCFD2 NM_139279.5(MCFD2): c.*1314C> T single nucleotide variant Uncertain significance rs150644996 GRCh38 Chromosome 2, 46904149: 46904149
36 MCFD2 NM_139279.5(MCFD2): c.*1314C> T single nucleotide variant Uncertain significance rs150644996 GRCh37 Chromosome 2, 47131288: 47131288
37 MCFD2 NM_139279.5(MCFD2): c.*892G> A single nucleotide variant Uncertain significance rs886056114 GRCh38 Chromosome 2, 46904571: 46904571
38 MCFD2 NM_139279.5(MCFD2): c.*892G> A single nucleotide variant Uncertain significance rs886056114 GRCh37 Chromosome 2, 47131710: 47131710
39 MCFD2 NM_139279.5(MCFD2): c.*693G> C single nucleotide variant Likely benign rs28516550 GRCh38 Chromosome 2, 46904770: 46904770
40 MCFD2 NM_139279.5(MCFD2): c.*693G> C single nucleotide variant Likely benign rs28516550 GRCh37 Chromosome 2, 47131909: 47131909
41 MCFD2 NM_139279.5(MCFD2): c.*173G> T single nucleotide variant Uncertain significance rs886056116 GRCh37 Chromosome 2, 47132429: 47132429
42 MCFD2 NM_139279.5(MCFD2): c.*173G> T single nucleotide variant Uncertain significance rs886056116 GRCh38 Chromosome 2, 46905290: 46905290
43 MCFD2 NM_139279.5(MCFD2): c.416C> T (p.Ala139Val) single nucleotide variant Uncertain significance rs80294301 GRCh37 Chromosome 2, 47132627: 47132627
44 MCFD2 NM_139279.5(MCFD2): c.416C> T (p.Ala139Val) single nucleotide variant Uncertain significance rs80294301 GRCh38 Chromosome 2, 46905488: 46905488
45 MCFD2 NM_139279.5(MCFD2): c.106C> G (p.Pro36Ala) single nucleotide variant Uncertain significance rs756021929 GRCh37 Chromosome 2, 47136205: 47136205
46 MCFD2 NM_139279.5(MCFD2): c.106C> G (p.Pro36Ala) single nucleotide variant Uncertain significance rs756021929 GRCh38 Chromosome 2, 46909066: 46909066
47 MCFD2 NM_139279.5(MCFD2): c.-90_-89delCG deletion Uncertain significance rs886056120 GRCh37 Chromosome 2, 47142944: 47142945
48 MCFD2 NM_139279.5(MCFD2): c.-90_-89delCG deletion Uncertain significance rs886056120 GRCh38 Chromosome 2, 46915805: 46915806
49 MCFD2 NM_139279.5(MCFD2): c.*3354A> G single nucleotide variant Uncertain significance rs886056105 GRCh37 Chromosome 2, 47129248: 47129248
50 MCFD2 NM_139279.5(MCFD2): c.*3354A> G single nucleotide variant Uncertain significance rs886056105 GRCh38 Chromosome 2, 46902109: 46902109

Expression for Factor V and Factor Viii, Combined Deficiency of, 1

Search GEO for disease gene expression data for Factor V and Factor Viii, Combined Deficiency of, 1.

Pathways for Factor V and Factor Viii, Combined Deficiency of, 1

Pathways related to Factor V and Factor Viii, Combined Deficiency of, 1 according to KEGG:

37
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

GO Terms for Factor V and Factor Viii, Combined Deficiency of, 1

Sources for Factor V and Factor Viii, Combined Deficiency of, 1

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