F5F8D1
MCID: FCT029
MIFTS: 33

Factor V and Factor Viii, Combined Deficiency of, 1 (F5F8D1)

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 72
Multiple Coagulation Factor Deficiency I 57 72
Combined Factor V and Viii Deficiency 57 13
F5f8d1 57 72
Fmfd I 57 72
Fmfd1 57 72
Mcfd1 57 72
Familial Multiple Coagulation Factor Deficiency I; Fmfd1 57
Deficiency, Combined, Factor V and Factor Viii, Type 1 39
Factor V and Factor Viii, Combined Deficiency of 70
Multiple Coagulation Factor Deficiency I; Mcfd1 57
Factor V and Factor Viii Combined Deficiency 1 72
Combined Deficiency of Factors V and Viii 36
Multiple Coagulation Factor Deficiency 1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
factor v and factor viii, combined deficiency of, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 227300
KEGG 36 H00221
MeSH 44 D025861
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Factor V and Factor Viii, Combined Deficiency of, 1, also known as combined deficiency of factor v and factor viii, 1, is related to factor v and factor viii, combined deficiency of, 2 and factor v deficiency. 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 are Protein processing in endoplasmic reticulum and Transport to the Golgi and subsequent modification. Affiliated tissues include bone, and related phenotypes are abnormal bleeding and reduced factor viii activity

KEGG : 36 Combined deficiency of factors V and VIII (F5F8D) is caused by mutations in LMAN1 or MCFD2, which form a complex working as an cargo receptor for transport of coagulation factors V and VIII from ER to Golgi.

UniProtKB/Swiss-Prot : 72 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

Diseases related to Factor V and Factor Viii, Combined Deficiency of, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 factor v and factor viii, combined deficiency of, 2 29.8 MCFD2 LMAN1
2 factor v deficiency 29.6 MCFD2 LMAN1
3 factor viii deficiency 29.5 MCFD2 LMAN1
4 hemophilia a 10.2
5 hemophilia 10.2
6 autosomal recessive disease 10.1
7 amenorrhea 10.1
8 brachydactyly, type d 9.6 MCFD2 LMAN1

Graphical network of the top 20 diseases related to Factor V and Factor Viii, Combined Deficiency of, 1:



Diseases related to Factor V and Factor Viii, Combined Deficiency of, 1

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

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

31
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 31 HP:0001892
2 reduced factor viii activity 31 HP:0003125
3 reduced coagulation factor v activity 31 HP:0003225

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Heme:
bleeding diathesis

Lab:
factor viii deficiency
factor v deficiency

Clinical features from OMIM®:

227300 (Updated 05-Apr-2021)

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:

40
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 38)
# Title Authors PMID Year
1
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. 6 57
18391077 2008
2
Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. 57 6
9546392 1998
3
Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. 6 57
9045860 1997
4
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
5
Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. 57
16304051 2006
6
Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders. 57
15333032 2004
7
Combined factors V and VIII deficiency climbs onto the map. 57
9045852 1997
8
Evidence of normal functional levels of activated protein C inhibitor in combined Factor V/VIII deficiency disease. 57
6294139 1982
9
Combined factor V and factor VIII deficiency among non-Ashkenazi Jews. 57
6811896 1982
10
Combined congenital deficiency of factor V and factor VIII. 57
6817580 1982
11
Combined factor V-VIII deficiency: a case report with studies of factor V and VIII activation by thrombin. 57
6794678 1981
12
Familial multiple coagulation factor deficiencies. I. Review of the literature: Differentiation of single hereditary disorders associated with multiple factor deficiencies from coincidental concurrence of single factor deficiency states. 57
6794149 1981
13
Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease. 57
6253526 1980
14
Combined deficiency of factor V and factor VIII (antihaemophilic globulin). A report of three cases. 57
14452289 1962
15
Observations on hemophilia, parahemophilia, and coexistent hemophilia and parahemophilia; alterations in the platelets and the thromboplastin generation test. 57
13575936 1958
16
Combined Factor V and VIII Deficiency. 61
29896340 2018
17
Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions. 61
28388959 2017
18
Combined factor V and VIII deficiency in a young woman with abundant bleeding after tooth extraction. 61
27104197 2016
19
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review. 61
25275492 2014
20
Combined factor V and VIII deficiency and pregnancy--need for an early protocol-based multidisciplinary management. 61
24161289 2013
21
Developmental haemostasis for factor V and factor VIII levels in neonates: a case report of spontaneous cephalhaematoma. 61
22536947 2013
22
An investigation of the spectrum of common and rare inherited coagulation disorders in north-eastern Iran. 61
23114518 2013
23
Combined factor V and VIII deficiency and pregnancy. 61
23073620 2012
24
Investigation of disease-associated factors in haemophilia A patients without detectable mutations. 61
22221887 2012
25
Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency. 61
22535353 2012
26
Bleeding symptoms in heterozygous carriers of inherited coagulation disorders in southern Iran. 61
21451397 2011
27
Bleeding disorders and reduced bone density. 61
20505939 2011
28
Clinical manifestations of combined factor V and VIII deficiency: a series of 37 cases from a single center in India. 61
20575023 2010
29
[Inherited bleeding disorders common in Jews]. 61
20929069 2010
30
Reduced bone density in individuals with severe hemophilia B. 61
20374329 2009
31
Successful Use of Factor VIII Concentrate and Fresh Frozen Plasma for Four Dental Extractions in an Individual with Combined Factor V and VIII Deficiency. 61
20823995 2009
32
Reduced bone density in individuals with combined factor V and VIII deficiency. 61
17498088 2007
33
Combined factor V and VIII deficiency: a new family and their haemorrhagic manifestations. 61
16476092 2006
34
Identifying novel genetic determinants of hemostatic balance. 61
16102020 2005
35
Circumcision in a combined factor V and factor VIII deficiency using desmopressin (DDAVP). 61
12026204 2002
36
Combined factor V and VIII deficiency in Indian population. 61
11012693 2000
37
Decreased factor VIII clotting antigen levels in the combined factor V and VIII deficiency. 61
6420932 1984
38
[Congenital combined factor V and VIII deficiency. Presentation of 2 cases and analysis of the response to DDAVP administration]. 61
7167851 1982

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

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

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMAN1 NM_005570.4(LMAN1):c.89dup (p.Asp31fs) Duplication Pathogenic 8062 rs869312030 GRCh37: 18:57026387-57026388
GRCh38: 18:59359155-59359156
2 LMAN1 NM_005570.4(LMAN1):c.1149+2T>C SNV Pathogenic 8063 rs869312031 GRCh37: 18:57005990-57005990
GRCh38: 18:59338758-59338758
3 LMAN1 NM_005570.4(LMAN1):c.796del (p.Gln266fs) Deletion Pathogenic 8064 rs869312032 GRCh37: 18:57014771-57014771
GRCh38: 18:59347539-59347539
4 LMAN1 NM_005570.4(LMAN1):c.1356del (p.Asn452_Leu453insTer) Deletion Pathogenic 8065 rs869312033 GRCh37: 18:57000341-57000341
GRCh38: 18:59333109-59333109
5 LMAN1 NM_005570.4(LMAN1):c.2T>C (p.Met1Thr) SNV Pathogenic 8066 rs121909253 GRCh37: 18:57026475-57026475
GRCh38: 18:59359243-59359243
6 MCFD2 NM_001171506.2(MCFD2):c.149+5G>A SNV Likely pathogenic 2865 rs387906286 GRCh37: 2:47136157-47136157
GRCh38: 2:46909018-46909018
7 MCFD2 NM_001171506.2(MCFD2):c.375_376GA[4] (p.Asp127fs) Microsatellite Likely pathogenic 627205 rs1484184249 GRCh37: 2:47132662-47132663
GRCh38: 2:46905523-46905524
8 LMAN1 NM_005570.4(LMAN1):c.904A>T (p.Lys302Ter) SNV Likely pathogenic 627401 rs183873209 GRCh37: 18:57013202-57013202
GRCh38: 18:59345970-59345970
9 LMAN1 NM_005570.4(LMAN1):c.1411C>T (p.Pro471Ser) SNV Conflicting interpretations of pathogenicity 889986 GRCh37: 18:56998735-56998735
GRCh38: 18:59331503-59331503
10 LMAN1 NM_005570.4(LMAN1):c.1391C>G (p.Pro464Arg) SNV Uncertain significance 889987 GRCh37: 18:56998755-56998755
GRCh38: 18:59331523-59331523
11 LMAN1 NM_005570.4(LMAN1):c.1310T>C (p.Ile437Thr) SNV Uncertain significance 889988 GRCh37: 18:57000387-57000387
GRCh38: 18:59333155-59333155
12 LMAN1 NM_005570.4(LMAN1):c.*2670G>C SNV Uncertain significance 891408 GRCh37: 18:56995655-56995655
GRCh38: 18:59328423-59328423
13 LMAN1 NM_005570.4(LMAN1):c.*2637T>C SNV Uncertain significance 891409 GRCh37: 18:56995688-56995688
GRCh38: 18:59328456-59328456
14 LMAN1 NM_005570.4(LMAN1):c.*2541T>C SNV Uncertain significance 891410 GRCh37: 18:56995784-56995784
GRCh38: 18:59328552-59328552
15 LMAN1 NM_005570.4(LMAN1):c.*1271A>G SNV Uncertain significance 891476 GRCh37: 18:56997054-56997054
GRCh38: 18:59329822-59329822
16 LMAN1 NM_005570.4(LMAN1):c.*1164A>G SNV Uncertain significance 891477 GRCh37: 18:56997161-56997161
GRCh38: 18:59329929-59329929
17 LMAN1 NM_005570.4(LMAN1):c.*2099C>T SNV Uncertain significance 891657 GRCh37: 18:56996226-56996226
GRCh38: 18:59328994-59328994
18 LMAN1 NM_005570.4(LMAN1):c.*2021A>C SNV Uncertain significance 891658 GRCh37: 18:56996304-56996304
GRCh38: 18:59329072-59329072
19 LMAN1 NM_005570.4(LMAN1):c.*753T>C SNV Uncertain significance 891730 GRCh37: 18:56997572-56997572
GRCh38: 18:59330340-59330340
20 LMAN1 NM_005570.4(LMAN1):c.*652T>C SNV Uncertain significance 891731 GRCh37: 18:56997673-56997673
GRCh38: 18:59330441-59330441
21 LMAN1 NM_005570.4(LMAN1):c.*571T>C SNV Uncertain significance 891732 GRCh37: 18:56997754-56997754
GRCh38: 18:59330522-59330522
22 LMAN1 NM_005570.4(LMAN1):c.*492T>C SNV Uncertain significance 891733 GRCh37: 18:56997833-56997833
GRCh38: 18:59330601-59330601
23 LMAN1 NM_005570.4(LMAN1):c.*480A>G SNV Uncertain significance 891734 GRCh37: 18:56997845-56997845
GRCh38: 18:59330613-59330613
24 LMAN1 NM_005570.4(LMAN1):c.*416C>T SNV Uncertain significance 891735 GRCh37: 18:56997909-56997909
GRCh38: 18:59330677-59330677
25 LMAN1 NM_005570.4(LMAN1):c.638C>T (p.Thr213Ile) SNV Uncertain significance 891801 GRCh37: 18:57020435-57020435
GRCh38: 18:59353203-59353203
26 LMAN1 NM_005570.4(LMAN1):c.597T>C (p.Tyr199=) SNV Uncertain significance 891802 GRCh37: 18:57020476-57020476
GRCh38: 18:59353244-59353244
27 LMAN1 NM_005570.4(LMAN1):c.512A>G (p.Asn171Ser) SNV Uncertain significance 891803 GRCh37: 18:57021778-57021778
GRCh38: 18:59354546-59354546
28 LMAN1 NM_005570.4(LMAN1):c.477+10T>C SNV Uncertain significance 891804 GRCh37: 18:57022535-57022535
GRCh38: 18:59355303-59355303
29 LMAN1 NM_005570.4(LMAN1):c.463G>C (p.Asp155His) SNV Uncertain significance 891805 GRCh37: 18:57022559-57022559
GRCh38: 18:59355327-59355327
30 LMAN1 NM_005570.4(LMAN1):c.*794A>G SNV Uncertain significance 891479 GRCh37: 18:56997531-56997531
GRCh38: 18:59330299-59330299
31 LMAN1 NM_005570.4(LMAN1):c.*763T>A SNV Uncertain significance 891480 GRCh37: 18:56997562-56997562
GRCh38: 18:59330330-59330330
32 LMAN1 NM_005570.4(LMAN1):c.775G>A (p.Val259Ile) SNV Uncertain significance 891546 GRCh37: 18:57014792-57014792
GRCh38: 18:59347560-59347560
33 LMAN1 NM_005570.4(LMAN1):c.*2359A>G SNV Uncertain significance 891655 GRCh37: 18:56995966-56995966
GRCh38: 18:59328734-59328734
34 LMAN1 NM_005570.4(LMAN1):c.1178T>C (p.Val393Ala) SNV Uncertain significance 800356 rs374176132 GRCh37: 18:57005831-57005831
GRCh38: 18:59338599-59338599
35 LMAN1 NM_005570.4(LMAN1):c.*1390T>C SNV Uncertain significance 889924 GRCh37: 18:56996935-56996935
GRCh38: 18:59329703-59329703
36 LMAN1 NM_005570.4(LMAN1):c.*1300C>T SNV Uncertain significance 889925 GRCh37: 18:56997025-56997025
GRCh38: 18:59329793-59329793
37 LMAN1 NM_005570.4(LMAN1):c.1434G>A (p.Thr478=) SNV Uncertain significance 889984 GRCh37: 18:56998712-56998712
GRCh38: 18:59331480-59331480
38 LMAN1 NM_005570.4(LMAN1):c.1412C>T (p.Pro471Leu) SNV Uncertain significance 889985 GRCh37: 18:56998734-56998734
GRCh38: 18:59331502-59331502
39 LMAN1 NM_005570.4(LMAN1):c.*1862A>G SNV Uncertain significance 889247 GRCh37: 18:56996463-56996463
GRCh38: 18:59329231-59329231
40 LMAN1 NM_005570.4(LMAN1):c.*1631A>G SNV Uncertain significance 889248 GRCh37: 18:56996694-56996694
GRCh38: 18:59329462-59329462
41 LMAN1 NM_005570.4(LMAN1):c.*319A>G SNV Uncertain significance 889302 GRCh37: 18:56998006-56998006
GRCh38: 18:59330774-59330774
42 LMAN1 NM_005570.4(LMAN1):c.*210G>A SNV Uncertain significance 889303 GRCh37: 18:56998115-56998115
GRCh38: 18:59330883-59330883
43 LMAN1 NM_005570.4(LMAN1):c.*185A>T SNV Uncertain significance 889304 GRCh37: 18:56998140-56998140
GRCh38: 18:59330908-59330908
44 LMAN1 NM_005570.4(LMAN1):c.*21T>G SNV Uncertain significance 889305 GRCh37: 18:56998304-56998304
GRCh38: 18:59331072-59331072
45 LMAN1 NM_005570.4(LMAN1):c.1527C>A (p.Phe509Leu) SNV Uncertain significance 889306 GRCh37: 18:56998331-56998331
GRCh38: 18:59331099-59331099
46 LMAN1 NM_005570.4(LMAN1):c.169C>G (p.Leu57Val) SNV Uncertain significance 889361 GRCh37: 18:57026308-57026308
GRCh38: 18:59359076-59359076
47 LMAN1 NM_005570.4(LMAN1):c.106G>C (p.Asp36His) SNV Uncertain significance 889362 GRCh37: 18:57026371-57026371
GRCh38: 18:59359139-59359139
48 LMAN1 NM_005570.4(LMAN1):c.*1556C>G SNV Uncertain significance 889922 GRCh37: 18:56996769-56996769
GRCh38: 18:59329537-59329537
49 MCFD2 NM_001171506.2(MCFD2):c.*1289T>C SNV Uncertain significance 336359 rs527427772 GRCh37: 2:47131313-47131313
GRCh38: 2:46904174-46904174
50 LMAN1 NM_005570.4(LMAN1):c.846G>A (p.Ser282=) SNV Uncertain significance 327572 rs377676111 GRCh37: 18:57013260-57013260
GRCh38: 18:59346028-59346028

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

72
# Symbol AA change Variation ID SNP ID
1 LMAN1 p.Trp67Ser VAR_071969

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:

36
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

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

Cellular components related to Factor V and Factor Viii, Combined Deficiency of, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.32 MCFD2 LMAN1
2 Golgi membrane GO:0000139 9.26 MCFD2 LMAN1
3 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 9.16 MCFD2 LMAN1
4 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 8.96 MCFD2 LMAN1
5 ER to Golgi transport vesicle membrane GO:0012507 8.62 MCFD2 LMAN1

Biological processes related to Factor V and Factor Viii, Combined Deficiency of, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.32 MCFD2 LMAN1
2 vesicle-mediated transport GO:0016192 9.26 MCFD2 LMAN1
3 ER to Golgi vesicle-mediated transport GO:0006888 9.16 MCFD2 LMAN1
4 COPII vesicle coating GO:0048208 8.96 MCFD2 LMAN1
5 protein N-linked glycosylation via asparagine GO:0018279 8.62 MCFD2 LMAN1

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

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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