MCID: CMB005
MIFTS: 28

Combined Factor V and Viii Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Combined Factor V and Viii Deficiency

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Aliases & Descriptions for Combined Factor V and Viii Deficiency:

Name: Combined Factor V and Viii Deficiency 49 11
Combined Deficiency of Factor V and Factor Viii, 1 24
Familial Multiple Coagulation Factor Deficiency I 67
Factor V and Factor Viii Combined Deficiency 1 67
Multiple Coagulation Factor Deficiency 1 67
 
Multiple Coagulation Factor Deficiency I 67
Fmfd I 67
F5f8d1 67
Mcfd1 67
Fmfd1 67


Classifications:



External Ids:

OMIM49 227300
MedGen34 C1856883
MeSH36 D025861

Summaries for Combined Factor V and Viii Deficiency

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OMIM:49 Combined deficiency of factor V (612309) and factor VIII (300841) is characterized by bleeding symptoms similar to... (227300) more...

MalaCards based summary: Combined Factor V and Viii Deficiency, also known as combined deficiency of factor v and factor viii, 1, is related to hennekam lymphangiectasia-lymphedema syndrome 1 and factor v deficiency, and has symptoms including autosomal recessive inheritance, abnormal bleeding and reduced factor viii activity. An important gene associated with Combined Factor V and Viii Deficiency is LMAN1 (Lectin, Mannose-Binding, 1), and among its related pathways is Vesicle-mediated transport.

UniProtKB/Swiss-Prot:67 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 Combined Factor V and Viii Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1hennekam lymphangiectasia-lymphedema syndrome 19.8LMAN1, MCFD2
2factor v deficiency9.8LMAN1, MCFD2
3factor v and factor viii, combined deficiency of9.8LMAN1, MCFD2
4dubowitz syndrome9.7LMAN1, MCFD2

Symptoms for Combined Factor V and Viii Deficiency

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Symptoms by clinical synopsis from OMIM:

227300

Clinical features from OMIM:

227300

HPO human phenotypes related to Combined Factor V and Viii Deficiency:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 abnormal bleeding HP:0001892
3 reduced factor viii activity HP:0003125
4 reduced factor v activity HP:0003225

Drugs & Therapeutics for Combined Factor V and Viii Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Combined Factor V and Viii Deficiency

Genetic Tests for Combined Factor V and Viii Deficiency

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Genetic tests related to Combined Factor V and Viii Deficiency:

id Genetic test Affiliating Genes
1 Combined Deficiency of Factor V and Factor Viii, 124

Anatomical Context for Combined Factor V and Viii Deficiency

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Animal Models for Combined Factor V and Viii Deficiency or affiliated genes

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Publications for Combined Factor V and Viii Deficiency

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Articles related to Combined Factor V and Viii Deficiency:

idTitleAuthorsYear
1
Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency. (22535353)
2012
2
Combined factors V and VIII deficiency (F5F8D) in a Chinese family due to compound heterozygosity for nonsense mutations of the LMAN1 gene. (17910641)
2007
3
Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran. (15086326)
2004
4
ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. (10090935)
1999
5
Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. (9045860)
1997

Variations for Combined Factor V and Viii Deficiency

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

67
id Symbol AA change Variation ID SNP ID
1LMAN1p.Trp67SerVAR_071969

Clinvar genetic disease variations for Combined Factor V and Viii Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LMAN1LMAN1, 1-BP DEL, 795CdeletionPathogenic
2LMAN1LMAN1, 1-BP DEL, 1356CdeletionPathogenic
3LMAN1NM_005570.3(LMAN1): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs121909253GRCh37Chr 18, 57026475: 57026475

Expression for genes affiliated with Combined Factor V and Viii Deficiency

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

Pathways for genes affiliated with Combined Factor V and Viii Deficiency

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Pathways related to Combined Factor V and Viii Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1LMAN1, MCFD2

GO Terms for genes affiliated with Combined Factor V and Viii Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1ER to Golgi transport vesicle membraneGO:00125079.6LMAN1, MCFD2
2endoplasmic reticulum-Golgi intermediate compartment membraneGO:00331169.6LMAN1, MCFD2
3endoplasmic reticulum-Golgi intermediate compartmentGO:00057939.5LMAN1, MCFD2
4endoplasmic reticulum membraneGO:00057899.1LMAN1, MCFD2
5Golgi membraneGO:00001399.0LMAN1, MCFD2
6Golgi apparatusGO:00057948.8LMAN1, MCFD2

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

idNameGO IDScoreTop Affiliating Genes
1ER to Golgi vesicle-mediated transportGO:00068889.5LMAN1, MCFD2
2COPII vesicle coatingGO:00482089.5LMAN1, MCFD2
3membrane organizationGO:00610249.4LMAN1, MCFD2
4protein N-linked glycosylation via asparagineGO:00182799.2LMAN1, MCFD2
5cellular protein metabolic processGO:00442679.1LMAN1, MCFD2
6post-translational protein modificationGO:00436878.8LMAN1, MCFD2

Sources for Combined Factor V and Viii Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet