MCID: CMB005
MIFTS: 27

Combined Factor V and Viii Deficiency malady

Blood diseases, Genetic diseases categories

Summaries for Combined Factor V and Viii Deficiency

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46OMIM, 32MalaCards
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MalaCards: Combined Factor V and Viii Deficiency, also known as familial multiple coagulation factor deficiency, is related to factor v deficiency and factor viii deficiency. An important gene associated with Combined Factor V and Viii Deficiency is LMAN1 (lectin, mannose-binding, 1), and among its related pathways is N-glycan antennae elongation in the medial/trans-Golgi. The compounds polysaccharide and Antihemophilic Factor have been mentioned in the context of this disorder.

Description from OMIM:46 227300,227310,613625

Aliases & Classifications for Combined Factor V and Viii Deficiency

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46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
familial multiple coagulation factor deficiency 48
combined deficiency of factor v and factor viii 48
fv and fviii combined deficiency 48
f5f8d 48


External Ids:

ICD10 via Orphanet26 D68.8

Related Diseases for Combined Factor V and Viii Deficiency

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17GeneCards, 18GeneDecks
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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 v deficiency31.0F5
2factor viii deficiency31.0F5, LMAN1
3factor v and factor viii, combined deficiency of10.6
4epidermodysplasia verruciformis10.4
5vitamin k-dependent clotting factors, combined deficiency of, 210.2
6vitamin k-dependent coagulation defect10.2
7protein s deficiency10.0F5
8factor v leiden thrombophilia10.0F5, LMAN1

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



Diseases related to combined factor v and viii deficiency

Clinical Features for Combined Factor V and Viii Deficiency

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46OMIM
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Clinical features from OMIM:

227300,227310,613625

Clinical synopsis from OMIM:

227300

Drugs & Therapeutics for Combined Factor V and Viii Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Combined Factor V and Viii Deficiency

Drug clinical trials:

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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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Genetic Variations for Combined Factor V and Viii Deficiency

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Expression for genes affiliated with Combined Factor V and Viii Deficiency

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1BioGPS, 15Gene 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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53Reactome
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Pathways related to Combined Factor V and Viii Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.0LMAN1, MCFD2

Compounds for genes affiliated with Combined Factor V and Viii Deficiency

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Combined Factor V and Viii Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1polysaccharide449.3LMAN1, F5
2Antihemophilic Factor118.9LMAN1, MCFD2
3warfarin44 49 11 2411.8MCFD2, F5

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

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16Gene 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:0057939.0LMAN1, MCFD2
2ER to Golgi transport vesicle membraneGO:0125078.7LMAN1, MCFD2

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

idNameGO IDScoreTop Affiliating Genes
1protein N-linked glycosylation via asparagineGO:0182799.0LMAN1, MCFD2
2blood coagulationGO:0075969.0LMAN1, F5
3cellular protein metabolic processGO:0442679.0LMAN1, MCFD2
4post-translational protein modificationGO:0436878.9LMAN1, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet