LMAN1, lectin, mannose binding 1, 3998

N. diseases: 30; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 Biomarker disease CLINGEN Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsin. 21795745 2011
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 GeneticVariation disease UNIPROT A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII. 19787799 2009
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 Biomarker disease GENOMICS_ENGLAND Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. 16304051 2006
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 Biomarker disease CLINGEN Combined factor V and factor VIII deficiency in a Thai patient: a case report of genotype and phenotype characteristics. 15876275 2005
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 Biomarker disease CLINGEN LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway. 15886209 2005
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 GeneticVariation disease UNIPROT ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. 10090935 1999
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 Biomarker disease CLINGEN Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. 10090934 1999
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 Biomarker disease CLINGEN Mannose-dependent endoplasmic reticulum (ER)-Golgi intermediate compartment-53-mediated ER to Golgi trafficking of coagulation factors V and VIII. 10551804 1999
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 Biomarker disease CLINGEN Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. 9546392 1998
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 CausalMutation disease CLINVAR
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 Biomarker disease CTD_human
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 Biomarker disease BEFREE On the contrary, thrombin generation in F5F8D platelet-rich plasma (PRP) was significantly lower than in normal controls (P < .05); however, it was fully corrected by normalizing FVIII or after 1-deamino-8-d-arginine vasopressin (DDAVP) infusion, indicating that the hypocoagulable state of F5F8D patients is associated with low FVIII levels. 31558466 2019
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GeneticVariation disease BEFREE We used PCI to treat the coronary artery disease in a patient with the combined deficiency of factor V and factor VIII (F5F8D) and analysed the molecular basis of the disorder for this patient. 23557496 2013
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GeneticVariation disease BEFREE The aim of this study was to determine the mutations of ERGIC-53 (endoplasmic reticulum [ER] to the ER-Golgi intermediate compartment) gene and combined F5F8D in a family. 20460353 2011
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GeneticVariation disease BEFREE Levels of plasma FV and FVIII, and platelet FV, are all reduced to ∼ 50% of wild-type in Lman1(-/-) mice, compared with the 5%-30% levels typically observed in human F5F8D patients. 21795745 2011
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 Biomarker disease BEFREE Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII. 20138881 2010
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GeneticVariation disease BEFREE A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII. 19787799 2009
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GeneticVariation disease BEFREE Measurement of platelet factor V (FV) levels in 7 F5F8D patients (4 with LMAN1 and 3 with MCFD2 mutations) demonstrated similar reductions to those observed for plasma FV. 18391077 2008
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 Biomarker disease BEFREE These results demonstrate that the binding of ERGIC-53 to sugar is enhanced by its interaction with MCFD2, and defects in this interaction in F5F8D patients may be the cause for reduced secretion of factors V and VIII. 18056485 2008
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GeneticVariation disease BEFREE F5F8D is genetically linked to mutations in the transmembrane lectin ERGIC-53 and its soluble interaction partner MCFD2. 17971482 2008
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GeneticVariation disease BEFREE Since the LMAN1 M1T mutation has been identified in most patients with F5F8D, we suggest that the search for this mutation should be the first step in the molecular characterization of patients from an Italian ethnic background. 17287640 2007
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GermlineCausalMutation disease ORPHANET Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. 16304051 2006
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GeneticVariation disease BEFREE Mutations in LMAN1 (ERGIC-53) or MCFD2 cause combined deficiency of factor V and factor VIII (F5F8D). 16304051 2006
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GeneticVariation disease BEFREE Thus, the compound heterozygote of these two mutations in LMAN1 cause combined F5F8D. 15876275 2005
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GeneticVariation disease BEFREE 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. 12717434 2003