Familial Multiple Coagulation Factor Deficiency I

Also Known As:

Combined Deficiency of Factor V and Factor VIII; F5F8D; FMFD I; FMFD1; Factor V And Factor VIII, Combined Deficiency Of; Factor V And Factor VIII, Combined Deficiency Of, With Normal Protein C And Protein C Inhibitor; MCFD1; Multiple Coagulation Factor Deficiency I

Networked: 46 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hemorrhage
2.	Disease Susceptibility (Diathesis)
3.	Hemophilia A (Haemophilia)
4.	Protein Deficiency
5.	Familial Multiple Coagulation Factor Deficiency I

Experts

1.	Zhang, Bin: 6 articles (11/2020 - 06/2003)
2.	Ginsburg, David: 5 articles (11/2020 - 06/2003)
3.	Zheng, Chunlei: 3 articles (09/2013 - 06/2008)
4.	Zhang, B: 3 articles (07/2013 - 09/2004)
5.	Kaufman, Randal J: 3 articles (09/2011 - 06/2003)
6.	Yamamoto, Kazuo: 3 articles (03/2010 - 02/2008)
7.	Peyvandi, Flora: 3 articles (06/2009 - 08/2005)
8.	Spreafico, Marta: 3 articles (06/2009 - 08/2005)
9.	Vasievich, Matthew P: 2 articles (07/2012 - 09/2011)
10.	Elgaaied, A: 2 articles (09/2011 - 09/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial Multiple Coagulation Factor Deficiency I:

1.	Factor V (Coagulation Factor V)IBA 09/01/2023 - "This case report delves into an uncommon coagulopathy recognized as factor V and VIII deficiency (F5F8D), which follows an autosomal recessive inheritance pattern. " 02/01/2010 - "Combined deficiency of factor V and VIII (F5F8D) is a rare, autosomal recessive disorder caused by mutations of either lman1 or mcfd2. " 07/01/2022 - "Factor V and VIII deficiency (F5F8D) is a rare coagulopathy; it's an autosomal recessive condition. This case report is about of 15-year-old unmarried Saudi female, who presented with a complaint of pain in the lower abdomen. " 01/01/2014 - "Inherited combined factor V and factor VIII deficiency (F5F8D) is autosomal recessive transmission disorder. " 02/01/2008 - "Combined factor V and factor VIII deficiency (F5F8D) is a rare, autosomal recessive coagulation disorder. "
2.	Factor VIII (Coagulation Factor VIII)IBA 09/01/1991 - "[Management of cesarean section under replacement therapy with factor VIII concentrates in a pregnant case with congenital combined deficiency of factor V and factor VIII]." 09/22/2011 - "Mutations in either LMAN1 or MCFD2 cause the combined deficiency of factor V (FV) and factor VIII (FVIII; F5F8D), suggesting an ER-to-Golgi cargo receptor function for the LMAN1-MCFD2 complex. " 06/01/2003 - "The latter model would be consistent with mutations in LMAN1 causing a selective block to export of factor V and factor VIII. But approximately 30% of individuals with F5F8D have normal levels of LMAN1, suggesting that mutations in another gene may also be associated with F5F8D. " 06/01/2003 - "2,3), suggesting that F5F8D could result from a defect in secretion of factor V and factor VIII (ref. " 09/01/2011 - "Combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) (F5F8D) is a rare autosomal recessive disorder characterized by mild-to-moderate bleeding and reduction in FV and FVIII levels in plasma. "
3.	Blood Coagulation Factors (Coagulation Factor)IBA 01/01/2021 - "Coagulation factor dosing showed combined deficiency of factor V and factor VIII as well as normal levels of other coagulation factors. " 03/05/2010 - "Together with the co-receptor MCFD2, it transports coagulation factors V and VIII. Mutations in LMAN1 and MCFD2 can cause combined deficiency of factors V and VIII (F5F8D). " 11/24/2020 - "Combined deficiency of coagulation factors V and VIII (F5F8D) is an autosomal recessive bleeding disorder caused by loss-of-function mutations in either LMAN1 or MCFD2. " 07/05/2012 - "Congenital dyserythropoietic anemia type II (CDAII) and combined deficiency of coagulation factors V and VIII (F5F8D) are the 2 known hematologic diseases that result from defects in the endoplasmic reticulum (ER)-to-Golgi transport system. " 09/01/2004 - "Combined deficiency of factor (F)V and FVIII (F5F8D) and combined deficiency of vitamin K-dependent clotting factors (VKCFD) comprise the vast majority of reported cases of familial multiple coagulation factor deficiencies. "
4.	Proteins (Proteins, Gene)FDA Link 09/01/2011 - "F5F8D is caused by mutations in one of two different genes, LMAN1 and MCFD2, which encode proteins that form a complex involved in the transport of FV and FVIII from the endoplasmic reticulum to the Golgi apparatus. " 09/01/2004 - "F5F8D is caused by mutations in two different genes (LMAN1 and MCFD2) that encode components of a stable protein complex. " 06/01/2003 - "Mutations in LMAN1 (also called ERGIC-53) result in combined deficiency of factor V and factor VIII (F5F8D), an autosomal recessive bleeding disorder characterized by coordinate reduction of both clotting proteins. " 04/01/2011 - "The combined deficiency of factor V and FVIII, commonly known as F5F8D, is a recessive disorder not attributable to the association of isolated factor V and FVIII deficiencies, but rather to defective intracellular processing of both proteins due to mutations involving the LMAN1 and MCFD2 genes, which encode two proteins forming an essential cargo receptor complex. " 09/12/2008 - "In order to facilitate understanding of the function of MCFD2 and the mechanism by which mutations in the protein cause F5F8D, we have determined the structure of human MCFD2 in solution by NMR. "
5.	Mannose-Binding Lectin (Mannan-Binding Lectin)IBA 11/01/2023 - "Mutations in lectin, mannose-binding 1 (LMAN1) and multiple coagulation factor deficiency protein 2 (MCFD2) cause the combined deficiency of factor V (FV) and FVIII (F5F8D). " 07/05/2012 - "F5F8D results from mutations in either LMAN1 (lectin mannose-binding protein 1) or MCFD2 (multiple coagulation factor deficiency protein 2), which encode the ER cargo receptor complex LMAN1-MCFD2. " 01/01/2018 - "Congenital combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) (F5F8D) is a rare autosomal recessive bleeding disorder caused by mutations in lectin mannose-binding type 1 (LMAN1) or multiple coagulation factor deficiency 2 (MCFD2) encoding chaperone molecules involved in the intracellular transport of FV and FVIII. " 06/01/2009 - "Combined deficiency of factor V (FV) and factor VIII (FVIII) (F5F8D, or FV+FVIII) is a autosomal recessive bleeding disorder caused by mutations in genes encoding two components of the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC-53), that is, lectin mannose binding protein ( LMAN1) and multiple coagulation factor deficiency 2 ( MCFD2), involved in the FV and FVIII intracellular transport rather than by DNA defects in the genes that encode the corresponding coagulation factors. "
6.	LectinsIBA 02/01/2008 - "F5F8D is genetically linked to mutations in the transmembrane lectin ERGIC-53 and its soluble interaction partner MCFD2. " 11/14/2019 - "Combined factor V (FV) and FVIII deficiency (F5F8D) is a rare autosomal-recessive bleeding disorder caused by mutations in lectin mannose binding-1 (LMAN1) and multiple coagulation factor deficiency-2 (MCFD2). " 03/02/2010 - "Combined deficiency of coagulation factors V and VIII (F5F8D), an autosomal recessive disorder characterized by coordinate reduction in the plasma levels of factor V (FV) and factor VIII (FVIII), is genetically linked to mutations in the transmembrane lectin ERGIC-53 and the soluble calcium-binding protein MCFD2. "
7.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2018 - "Whole-exome sequencing identified a previously reported homozygous nonsense mutation in LMAN1, revealing F5F8D in the proband. " 11/01/2007 - "Combined factors V and VIII deficiency (F5F8D) in a Chinese family due to compound heterozygosity for nonsense mutations of the LMAN1 gene." 02/01/2008 - "Here, we studied a F5F8D patient who was found to be a compound heterozygote for 2 novel mutations in MCFD2: a large deletion of 8.4 kb eliminating the 5'UTR of the gene and a nonsense mutation resulting in the deletion of only 3 amino acids (DeltaSLQ) from the C-terminus of MCFD2. "
8.	DNA (Deoxyribonucleic Acid)IBA 07/01/1997 - "The difference in clinical severity of the phenotype in unrelated families, as well as the failure to detect a specific haplotype of DNA polymorphisms in the consanguineous Iranian families, suggests the existence of different molecular defects in the F5F8D gene. " 11/01/2008 - "Among all the autosomal recessive rare bleeding disorders, which include afibrinogenaemia, factor (F) II, FV, FV + VIII, FVII, FX, FXI, FXIII, the combined deficiency of coagulation FV and FVIII (F5F8D or FV + FVIII) is exceptional because it is due to mutations in genes encoding proteins involved in the FV and FVIII intracellular transport (LMAN1 and MCFD2) rather than DNA defects in the genes that encode the corresponding coagulation factors. " 06/01/2009 - "Combined deficiency of factor V (FV) and factor VIII (FVIII) (F5F8D, or FV+FVIII) is a autosomal recessive bleeding disorder caused by mutations in genes encoding two components of the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC-53), that is, lectin mannose binding protein ( LMAN1) and multiple coagulation factor deficiency 2 ( MCFD2), involved in the FV and FVIII intracellular transport rather than by DNA defects in the genes that encode the corresponding coagulation factors. "
9.	MetalsIBA 01/01/2012 - "The V100D, one of the many MCFD2 mutations known to be associated to F5F8D, is difficult to be reconciled with the pathway model because it is located far from the metal sites and the MCFD2/LMAN1 interface. " 07/01/2013 - "A 68-year-old patient was admitted for urgent PCI with bare metal stent placement after the diagnosis of the F5F8D. "
10.	Mannose (D-Mannose)IBA 11/01/2009 - "Taken together, it was suggested that the p.Trp67Ser mutation might affect the molecular chaperone function of LMAN1, impairing affinity for D-mannose as well as for MCFD2, which may be responsible for F5F8D in the patient. " 11/14/2019 - "Combined factor V (FV) and FVIII deficiency (F5F8D) is a rare autosomal-recessive bleeding disorder caused by mutations in lectin mannose binding-1 (LMAN1) and multiple coagulation factor deficiency-2 (MCFD2). "

Therapies and Procedures

1.	Stents 07/01/2013 - "A 68-year-old patient was admitted for urgent PCI with bare metal stent placement after the diagnosis of the F5F8D. "
2.	Therapeutics 09/01/1991 - "[Management of cesarean section under replacement therapy with factor VIII concentrates in a pregnant case with congenital combined deficiency of factor V and factor VIII]."
3.	Cesarean Section (Caesarean Section) 09/01/1991 - "[Management of cesarean section under replacement therapy with factor VIII concentrates in a pregnant case with congenital combined deficiency of factor V and factor VIII]."