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: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 Biomarker disease BEFREE Congenital contractural arachnodactyly (Beals syndrome). 16740166 2006
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease CLINVAR Fibrillin-1 misfolding and disease. 16677079 2006
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 Biomarker disease BEFREE Cases 27, 44, and 84 had two silent mutations from GAC (Asp) to GAT (Asp) at codon 82, and from CCA (Pro) to CCT (Pro) at codon 132. 14719121 2004
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease UNIPROT Furthermore, analysis of the clinical data of the CCA patients with characterized FBN2 mutation indicate that CCA patients have aortic root dilatation and the vast majority lack evidence of congenital heart disease. 11754102 2002
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease BEFREE Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. 11754102 2002
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease BEFREE Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. 12383326 2002
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease BEFREE The second is a homozygous missense mutation in codon 222 [CCA (Pro) --> ACT (Thr) = P222T] in the gene identified from a female neonate with salt-wasting disorder. 12050213 2002
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease CLINVAR Furthermore, analysis of the clinical data of the CCA patients with characterized FBN2 mutation indicate that CCA patients have aortic root dilatation and the vast majority lack evidence of congenital heart disease. 11754102 2002
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 Biomarker 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: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 Biomarker disease MGD Regulation of limb patterning by extracellular microfibrils. 11470817 2001
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease CLINVAR Regulation of limb patterning by extracellular microfibrils. 11470817 2001
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease CLINVAR Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. 11285249 2001
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease BEFREE Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. 10797416 2000
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease BEFREE The gene for fibrillin-2 (FBN2) is highly homologous to FBN1, and mutations in FBN2 have been shown to cause a phenotypically related disorder termed congenital contractural arachnodactyly. 10633129 2000
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease UNIPROT Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. 10797416 2000
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease BEFREE Fibrillin-1 mutations result in the pleiotropic manifestations of Marfan syndrome, and fibrillin-2 alterations cause the overlapping phenotype of congenital contractural arachnodactyly. 10216958 1999
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease UNIPROT A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. 9737771 1998
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease UNIPROT FBN2 mRNA extracted from 12 unrelated CCA patient cell strains was screened for mutations, and FBN2 mutations were identified in six of these samples. 9714438 1998
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 AlteredExpression disease BEFREE FBN2 mRNA extracted from 12 unrelated CCA patient cell strains was screened for mutations, and FBN2 mutations were identified in six of these samples. 9714438 1998
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 Biomarker disease GENOMICS_ENGLAND Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. 9106527 1997
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 Biomarker disease BEFREE Previous studies demonstrated linkage of this family's CCA phenotype to FBN2. 9199560 1997
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 CausalMutation disease CLINVAR Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. 8900230 1996
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease BEFREE The evidence includes the identification of fibrillin 2, a microfibrillar component structurally related to fibrillin 1; the differential pattern of gene expression of the two fibrillin; and the association of fibrillin 2 mutations with congenital contractural arachnodactyly. 8791520 1996
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease BEFREE Our study provides final proof of the association between FBN2 mutations and CCA pathology, thus establishing the role of the fibrillin-2 in extracellular matrix physiology and pathology. 7493032 1995
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation disease UNIPROT Our study provides final proof of the association between FBN2 mutations and CCA pathology, thus establishing the role of the fibrillin-2 in extracellular matrix physiology and pathology. 7493032 1995