MCID: CMB005
MIFTS: 29

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 50 12
Factor V and Factor Viii Combined Deficiency 1 68 25
Familial Multiple Coagulation Factor Deficiency I 68
Multiple Coagulation Factor Deficiency 1 68
Multiple Coagulation Factor Deficiency I 68
 
F5f8d1 68
Fmfd I 68
Mcfd1 68
Fmfd1 68

Characteristics:

HPO:

62
combined factor v and viii deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 227300
MedGen35 C1856883
MeSH37 D025861

Summaries for Combined Factor V and Viii Deficiency

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OMIM:50 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 multiple congenital anomalies-hypotonia-seizures syndrome 1 and factor v deficiency, and has symptoms including abnormal bleeding, reduced factor viii activity and reduced factor v activity. 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. Affiliated tissues include bone.

UniProtKB/Swiss-Prot:68 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
1multiple congenital anomalies-hypotonia-seizures syndrome 19.5LMAN1, MCFD2
2factor v deficiency9.5LMAN1, MCFD2
3factor v and factor viii, combined deficiency of9.4LMAN1, MCFD2
4tympanosclerosis9.2LMAN1, MCFD2

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

Drugs & Therapeutics for Combined Factor V and Viii Deficiency

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation of Clot Stability Induced by Solulin: Evaluation of New Solulin Mutants Lacking Protein C Activation CapacityCompletedNCT02911233

Search NIH Clinical Center for Combined Factor V and Viii Deficiency

Genetic Tests for Combined Factor V and Viii Deficiency

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Genetic tests related to Combined Factor V and Viii Deficiency:

id Genetic test Affiliating Genes
1 Combined Deficiency of Factor V and Factor Viii, 125

Anatomical Context for Combined Factor V and Viii Deficiency

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MalaCards organs/tissues related to Combined Factor V and Viii Deficiency:

34
Bone

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:

(show all 14)
idTitleAuthorsYear
1
Combined factor V and VIII deficiency in a young woman with abundant bleeding after tooth extraction. (27104197)
2016
2
Combined factor V and VIII deficiency and pregnancy--need for an early protocol-based multidisciplinary management. (24161289)
2013
3
Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency. (22535353)
2012
4
Combined factor V and VIII deficiency and pregnancy. (23073620)
2012
5
Clinical manifestations of combined factor V and VIII deficiency: a series of 37 cases from a single center in India. (20575023)
2010
6
Successful Use of Factor VIII Concentrate and Fresh Frozen Plasma for Four Dental Extractions in an Individual with Combined Factor V and VIII Deficiency. (20823995)
2009
7
Combined factors V and VIII deficiency (F5F8D) in a Chinese family due to compound heterozygosity for nonsense mutations of the LMAN1 gene. (17910641)
2007
8
Reduced bone density in individuals with combined factor V and VIII deficiency. (17498088)
2007
9
Combined factor V and VIII deficiency: a new family and their haemorrhagic manifestations. (16476092)
2006
10
Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran. (15086326)
2004
11
Combined factor V and VIII deficiency in Indian population. (11012693)
2000
12
ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. (10090935)
1999
13
Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. (9045860)
1997
14
Decreased factor VIII clotting antigen levels in the combined factor V and VIII deficiency. (6420932)
1984

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:

68
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 variantPathogenicrs869312031GRCh37Chr 18, 57005990: 57005990
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
1ER to Golgi transport vesicle membraneGO:00125079.7LMAN1, MCFD2
2endoplasmic reticulum-Golgi intermediate compartment membraneGO:00331169.6LMAN1, MCFD2
3Golgi membraneGO:00001399.3LMAN1, MCFD2
4endoplasmic reticulum membraneGO:00057899.1LMAN1, MCFD2

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

idNameGO IDScoreTop Affiliating Genes
1COPII vesicle coatingGO:00482089.4LMAN1, MCFD2
2ER to Golgi vesicle-mediated transportGO:00068889.1LMAN1, MCFD2
3protein N-linked glycosylation via asparagineGO:00182799.1LMAN1, MCFD2

Sources for Combined Factor V and Viii Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet