F5F8D1
MCID: CMB005
MIFTS: 30

Combined Factor V and Viii Deficiency (F5F8D1) malady

Categories: Genetic diseases

Aliases & Classifications for Combined Factor V and Viii Deficiency

Aliases & Descriptions for Combined Factor V and Viii Deficiency:

Name: Combined Factor V and Viii Deficiency 54 13
Factor V and Factor Viii Combined Deficiency 1 66 29
Familial Multiple Coagulation Factor Deficiency I 66
Factor V and Factor Viii, Combined Deficiency of 69
Multiple Coagulation Factor Deficiency 1 66
Multiple Coagulation Factor Deficiency I 66
Fmfd I 66
F5f8d1 66
Fmfd1 66
Mcfd1 66

Characteristics:

HPO:

32
combined factor v and viii deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 227300
MedGen 40 C1856883
MeSH 42 D025861

Summaries for Combined Factor V and Viii Deficiency

OMIM : 54 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 erythrocytosis, familial, 4 and multiple congenital anomalies-hypotonia-seizures syndrome 1, 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/superpathways is Transport to the Golgi and subsequent modification. The drug Protein C has been mentioned in the context of this disorder. Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 66 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

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

id Related Disease Score Top Affiliating Genes
1 erythrocytosis, familial, 4 9.8 LMAN1 MCFD2
2 multiple congenital anomalies-hypotonia-seizures syndrome 1 9.7 LMAN1 MCFD2

Symptoms & Phenotypes for Combined Factor V and Viii Deficiency

Symptoms by clinical synopsis from OMIM:

227300

Clinical features from OMIM:

227300

Human phenotypes related to Combined Factor V and Viii Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 abnormal bleeding 32 HP:0001892
2 reduced factor viii activity 32 HP:0003125
3 reduced factor v activity 32 HP:0003225

Drugs & Therapeutics for Combined Factor V and Viii Deficiency

Drugs for Combined Factor V and Viii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protein C

Interventional clinical trials:


id Name Status NCT ID Phase
1 Evaluation of Clot Stability Induced by Solulin: Evaluation of New Solulin Mutants Lacking Protein C Activation Capacity Completed NCT02911233

Search NIH Clinical Center for Combined Factor V and Viii Deficiency

Genetic Tests for Combined Factor V and Viii Deficiency

Genetic tests related to Combined Factor V and Viii Deficiency:

id Genetic test Affiliating Genes
1 Combined Deficiency of Factor V and Factor Viii, 1 29

Anatomical Context for Combined Factor V and Viii Deficiency

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

39
Bone

Publications for Combined Factor V and Viii Deficiency

Articles related to Combined Factor V and Viii Deficiency:

(show all 14)
id Title Authors Year
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
Combined factor V and VIII deficiency and pregnancy. ( 23073620 )
2012
4
Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency. ( 22535353 )
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
Reduced bone density in individuals with combined factor V and VIII deficiency. ( 17498088 )
2007
8
Combined factors V and VIII deficiency (F5F8D) in a Chinese family due to compound heterozygosity for nonsense mutations of the LMAN1 gene. ( 17910641 )
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

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

66
id Symbol AA change Variation ID SNP ID
1 LMAN1 p.Trp67Ser VAR_071969

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LMAN1 NM_005570.3(LMAN1): c.89dupG (p.Asp31Argfs) duplication Pathogenic rs869312030 GRCh38 Chromosome 18, 59359156: 59359156
2 LMAN1 NM_005570.3(LMAN1): c.1149+2T> C single nucleotide variant Pathogenic rs869312031 GRCh38 Chromosome 18, 59338758: 59338758
3 LMAN1 NM_005570.3(LMAN1): c.796delC (p.Gln266Serfs) deletion Pathogenic rs869312032 GRCh38 Chromosome 18, 59347539: 59347539
4 LMAN1 NM_005570.3(LMAN1): c.1356delC (p.Leu453Terfs) deletion Pathogenic rs869312033 GRCh38 Chromosome 18, 59333109: 59333109
5 LMAN1 NM_005570.3(LMAN1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121909253 GRCh37 Chromosome 18, 57026475: 57026475

Expression for Combined Factor V and Viii Deficiency

Search GEO for disease gene expression data for Combined Factor V and Viii Deficiency.

Pathways for Combined Factor V and Viii Deficiency

GO Terms for Combined Factor V and Viii Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.32 LMAN1 MCFD2
2 Golgi membrane GO:0000139 9.26 LMAN1 MCFD2
3 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 9.16 LMAN1 MCFD2
4 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 8.96 LMAN1 MCFD2
5 ER to Golgi transport vesicle membrane GO:0012507 8.62 LMAN1 MCFD2

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

id Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.32 LMAN1 MCFD2
2 vesicle-mediated transport GO:0016192 9.26 LMAN1 MCFD2
3 ER to Golgi vesicle-mediated transport GO:0006888 9.16 LMAN1 MCFD2
4 COPII vesicle coating GO:0048208 8.96 LMAN1 MCFD2
5 protein N-linked glycosylation via asparagine GO:0018279 8.62 LMAN1 MCFD2

Sources for Combined Factor V and Viii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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