MCID: CMB005
MIFTS: 20

Combined Factor V and Viii Deficiency malady

Genetic diseases (common) category

Summaries for Combined Factor V and Viii Deficiency

About this section


OMIM:45 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 of, 1, is related to factor viii deficiency and factor v and factor viii, combined deficiency of, 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 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Aliases & Classifications for Combined Factor V and Viii Deficiency

About this section

Combined Factor V and Viii Deficiency, Aliases & Descriptions:

Name: Combined Factor V and Viii Deficiency 45 10
 
Factor V and Factor Viii, Combined Deficiency of, 1 45 22


Classifications:

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


External Ids:

OMIM45 227300

Related Diseases for Combined Factor V and Viii Deficiency

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1factor viii deficiency9.9LMAN1, MCFD2
2factor v and factor viii, combined deficiency of9.7LMAN1, MCFD2

Symptoms for Combined Factor V and Viii Deficiency

About this section

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

About this section

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

About this section

Genetic tests related to Combined Factor V and Viii Deficiency:

id Genetic test Affiliating Genes
1 Combined Deficiency of Factor V and Factor Viii, 122

Anatomical Context for Combined Factor V and Viii Deficiency

About this section

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

About this section

Publications for Combined Factor V and Viii Deficiency

About this section

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

About this section

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

62
id Symbol AA change Variation ID SNP ID
1LMAN1p.Trp67SerVAR_071969

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

6
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

About this section
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

About this section

Compounds for genes affiliated with Combined Factor V and Viii Deficiency

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum-Golgi intermediate compartmentGO:00057939.1LMAN1, MCFD2
2ER to Golgi transport vesicle membraneGO:00125078.8LMAN1, MCFD2

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

idNameGO IDScoreTop Affiliating Genes
1cellular protein metabolic processGO:00442679.1LMAN1, MCFD2
2protein N-linked glycosylation via asparagineGO:00182799.0LMAN1, MCFD2
3post-translational protein modificationGO:00436878.8LMAN1, MCFD2

Products for genes affiliated with Combined Factor V and Viii Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Combined Factor V and Viii Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet