FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 GeneticVariation disease BEFREE Our report is the first atypical nMFS case with p.Glu1073Lys mutation of FBN1 in Korea and may help clinicians with the diagnosis and follow-up of atypical nMFS. 27914124 2017
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 GeneticVariation disease BEFREE An analysis of nMFS-associated mutations from the UMD-FBN1 database indicates that those de novo mutations altering disulfide bonds or Ca(2+) binding sites of the cbEGF domains encoded by exons 25-33, and a lack of phenotypic heterogeneity may be associated with an increased risk for nMFS. 27138491 2016
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 GeneticVariation disease BEFREE Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function. 21784848 2011
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 GermlineCausalMutation disease ORPHANET Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome. 20132243 2010
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 GeneticVariation disease BEFREE Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. 18377451 2008
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 GeneticVariation disease BEFREE Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia. 15666366 2005
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 GeneticVariation disease BEFREE Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. 11175294 2001
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 GeneticVariation disease BEFREE Interestingly, mutations described to date cluster in the fibrillin-2 region homologous to the so-called neonatal Marfan syndrome region of fibrillin-1. 10797416 2000
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 GeneticVariation disease BEFREE Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome. 10189088 1999
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 Biomarker disease BEFREE A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome. 8884270 1996
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 GeneticVariation disease BEFREE Here we describe the appearance of two FBN1 mutations in a single allele of an infant with nMFS. 8880577 1996
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 GeneticVariation disease BEFREE Here we report the recurrent mis-splicing of fibrillin (FBN1) exon 32, a precursor EGF-like calcium binding domain, in two unrelated infants with nMFS. 7633409 1995
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 GeneticVariation disease BEFREE Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's syndrome, ectopia lentis and neonatal Marfan's syndrome. 7870075 1994
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
0.500 CausalMutation disease CLINVAR