MCID: CMB005
MIFTS: 26

Combined Factor V and Viii Deficiency malady

Genetic diseases, Blood diseases, Rare diseases categories

Summaries for Combined Factor V and Viii Deficiency

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48OMIM, 34MalaCards
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MalaCards: Combined Factor V and Viii Deficiency, also known as familial multiple coagulation factor deficiency, is related to factor viii deficiency and factor v and factor viii, combined deficiency of. An important gene associated with Combined Factor V and Viii Deficiency is LMAN1 (lectin, mannose-binding, 1), and among its related pathways is Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Description from OMIM:48 227300,227310,613625

Aliases & Classifications for Combined Factor V and Viii Deficiency

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48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

50
familial multiple coagulation factor deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

combined factor v and viii deficiency 48
familial multiple coagulation factor deficiency 50
combined deficiency of factor v and factor viii 50
fv and fviii combined deficiency 50
f5f8d 50


External Ids:

ICD10 via Orphanet27 D68.8

Related Diseases for Combined Factor V and Viii Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Combined Factor V and Viii Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1factor viii deficiency30.3LMAN1, MCFD2
2factor v and factor viii, combined deficiency of10.6
3epidermodysplasia verruciformis10.5
4vitamin k-dependent clotting factors, combined deficiency of, 210.3
5vitamin k-dependent coagulation defect10.3

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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48OMIM
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Symptoms by clinical synopsis from OMIM:

227300

Clinical features from OMIM:

227300,227310,613625

Drugs & Therapeutics for Combined Factor V and Viii Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Combined Factor V and Viii Deficiency

Drug clinical trials:

Search ClinicalTrials for Combined Factor V and Viii Deficiency

Search NIH Clinical Center for Combined Factor V and Viii Deficiency

Search CenterWatch 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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53PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Combined Factor V and Viii Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1LMAN1LMAN1, 1-BP DEL, 795CdeletionPathogenic/card/combined_factor_v_and_viii_deficiency
2LMAN1LMAN1, 1-BP DEL, 1356CdeletionPathogenic/card/combined_factor_v_and_viii_deficiency
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Combined Factor V and Viii Deficiency

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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51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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Compounds for genes affiliated with Combined Factor V and Viii Deficiency

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

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17Gene Ontology
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Cellular components related to Combined Factor V and Viii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum-Golgi intermediate compartmentGO:0057939.1LMAN1, MCFD2
2ER to Golgi transport vesicle membraneGO:0125078.8LMAN1, MCFD2

Biological processes related to Combined Factor V and Viii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular protein metabolic processGO:0442679.1LMAN1, MCFD2
2protein N-linked glycosylation via asparagineGO:0182799.0LMAN1, MCFD2
3post-translational protein modificationGO:0436878.8LMAN1, MCFD2

Products for genes affiliated with Combined Factor V and Viii Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Combined Factor V and Viii Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet