MCID: CMB005
MIFTS: 28

Combined Factor V and Viii Deficiency malady

Category: Genetic diseases (common)

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
Factor V and Factor Viii Combined Deficiency 1 67 24
Familial Multiple Coagulation Factor Deficiency I 67
Factor V and Factor Viii, Combined Deficiency of 65
Multiple Coagulation Factor Deficiency 1 67
 
Multiple Coagulation Factor Deficiency I 67
Fmfd I 67
F5f8d1 67
Mcfd1 67
Fmfd1 67

Characteristics:

HPO:

61
combined factor v and viii deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 227300
MedGen34 C1856883
MeSH36 D025861
UMLS65 C1856883

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 factor v and factor viii combined deficiency 1, is related to h. pylori infection and drug addiction, and has symptoms including reduced factor v activity, reduced factor viii activity and abnormal bleeding. 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
1h. pylori infection10.2
2drug addiction10.2
3urticaria10.2
4hennekam lymphangiectasia-lymphedema syndrome 19.7LMAN1, MCFD2
5factor v and factor viii, combined deficiency of9.7LMAN1, MCFD2
6factor v deficiency9.7LMAN1, MCFD2
7dysthymic disorder9.6LMAN1, MCFD2
8skeletal muscle regeneration9.5LMAN1, MCFD2

Graphical network of diseases related to Combined Factor V and Viii Deficiency:



Diseases related to combined factor v and viii deficiency

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 reduced factor v activity HP:0003225
2 reduced factor viii activity HP:0003125
3 abnormal bleeding HP:0001892

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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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
Regulators of apoptosis in cholangiocarcinoma. (15794670)
2005
2
Ultraviolet germicidal irradiation disinfection of Stachybotrys chartarum. (16391660)
2005
3
Natural history of rhizomelic chondrodysplasia punctata. (12687664)
2003
4
Single-minded regulation of genes in the embryonic midline of the Drosophila central nervous system. (8518191)
1993
5
The structure of human carbonmonoxy haemoglobin at 2.7-A resolution. (7373648)
1980

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
1LMAN1NM_005570.3(LMAN1): c.89dupG (p.Asp31Argfs)duplicationPathogenicrs869312030GRCh38Chr 18, 59359156: 59359156
2LMAN1NM_005570.3(LMAN1): c.1149+2T> Csingle nucleotide variantPathogenicrs869312031GRCh38Chr 18, 59338758: 59338758
3LMAN1NM_005570.3(LMAN1): c.796delC (p.Gln266Serfs)deletionPathogenicrs869312032GRCh38Chr 18, 59347539: 59347539
4LMAN1NM_005570.3(LMAN1): c.1356delC (p.Leu453Terfs)deletionPathogenicrs869312033GRCh38Chr 18, 59333109: 59333109
5LMAN1NM_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 pathwaysScoreTop 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
1endoplasmic reticulum-Golgi intermediate compartment membraneGO:00331169.1LMAN1, MCFD2

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

idNameGO IDScoreTop Affiliating Genes
1protein N-linked glycosylation via asparagineGO:00182799.2LMAN1, MCFD2
2post-translational protein modificationGO:00436879.1LMAN1, 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