FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.200 GeneticVariation disease BEFREE In our database, we discovered two families with hitherto unreported co-occurrence of FBN1/FBN2 variants causing phenotypes with mixed or modified MFS/CCA clinical features. 31506931 2020
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.200 Biomarker disease BEFREE The presence of fibrillin 2 in the murine zonule and an intact zonule in Fbn1-knockout mice may limit the utility of rodent models for studying ectopia lentis in MFS. 24265020 2013
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.200 GeneticVariation disease BEFREE Marfan's syndrome and congenital contractural arachnodactyly (CCA) result from dominant mutations in the genes FBN1 and FBN2 respectively. 20161761 2010
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.200 Biomarker disease BEFREE Mutational analysis of the FBN1 and FBN2 genes excluded Marfan syndrome and congenital contractural arachnodactyly. 20560960 2010
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.200 GeneticVariation disease BEFREE Their physiological importance is underscored by the complex spectrum of clinical manifestations associated with mutations of fibrillin-1 and fibrillin-2 in Marfan syndrome (MFS) and congenital contractural arachnodactyly, respectively. 17708531 2007
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.200 Biomarker disease BEFREE The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of FBN2 mutation. 16740166 2006
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.200 Biomarker disease LHGDN In order to evaluate the contribution of FBN1, FBN2, TGFBR1, and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. 16835936 2006
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.200 GeneticVariation disease BEFREE All the identified CCA mutations in FBN2 cluster in a limited region similar to where severe MFS mutations cluster in FBN1, specifically between exons 23 and 34. 11754102 2002
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.200 GeneticVariation disease BEFREE Impaired assembly potentially plays a role in the molecular pathogenesis of genetic disorders caused by mutations in fibrillin-1 (Marfan syndrome) and fibrillin-2 (congenital contractural arachnodactyly). 12399449 2002
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.200 GeneticVariation disease BEFREE The limited region of FBN2 that can be mutated to cause CCA may also help to explain the rarity of CCA compared to MFS. 9714438 1998
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.200 GeneticVariation disease BEFREE Previous studies have mapped the human genes for two fibrillins to chromosome bands 15q21 (FBN1) and 5q23-q31 (FBN2) and have demonstrated that FBN1 mutations are associated with Marfan syndrome, while FBN2 is linked to the gene for congenital contractural arachnodactyly. 8307578 1993
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.200 GeneticVariation disease CLINVAR