MCID: CMB005
MIFTS: 26

Combined Factor V and Viii Deficiency malady

Genetic diseases, Blood diseases, Rare diseases categories
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Summaries for Combined Factor V and Viii Deficiency

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MalaCards based summary: Combined Factor V and Viii Deficiency, also known as f5f8d, is related to factor viii deficiency and factor v and factor viii, combined deficiency of, and has symptoms including 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.

Descriptions from OMIM:46 227300,227310,613625

Aliases & Classifications for Combined Factor V and Viii Deficiency

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Combined Factor V and Viii Deficiency, Aliases & Descriptions:

Name: Combined Factor V and Viii Deficiency 46
F5f8d 48 62
Familial Multiple Coagulation Factor Deficiency 48
 
Combined Deficiency of Factor V and Factor Viii 48
Fv and Fviii Combined Deficiency 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
f5f8d:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age


External Ids:

ICD10 via Orphanet26 D68.8

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1factor viii deficiency30.2LMAN1, 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 clotting factors, combined deficiency of, 110.3

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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Symptoms by clinical synopsis from OMIM:

227300

Clinical features from OMIM:

227300,227310,613625

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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Drug clinical trials:

Search ClinicalTrials for Combined Factor V and Viii Deficiency

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

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1MCFD2NM_001171507.2(MCFD2): c.149+5G> Asingle nucleotide variantPathogenicrs387906286GRCh37Chr 2, 47136157: 47136157
2MCFD2NM_001171507.2(MCFD2): c.309+1G> Asingle nucleotide variantPathogenicrs387906287GRCh37Chr 2, 47134948: 47134948
3MCFD2MCFD2, 1-BP DEL, 103CdeletionPathogenic
4MCFD2MCFD2, 1-BP DEL, 249TdeletionPathogenic
5MCFD2MCFD2, 8-BP DEL, NT263deletionPathogenic
6MCFD2NM_001171507.2(MCFD2): c.387C> G (p.Asp129Glu)single nucleotide variantPathogenicrs137852913GRCh37Chr 2, 47132656: 47132656
7MCFD2NM_001171507.2(MCFD2): c.407T> C (p.Ile136Thr)single nucleotide variantPathogenicrs137852914GRCh37Chr 2, 47132636: 47132636
8MCFD2NM_001171507.2(MCFD2): c.241G> T (p.Asp81Tyr)single nucleotide variantPathogenicrs78289603GRCh37Chr 2, 47135017: 47135017
9LMAN1LMAN1, 1-BP DEL, 795CdeletionPathogenic
10LMAN1LMAN1, 1-BP DEL, 1356CdeletionPathogenic
11LMAN1NM_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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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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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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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
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet