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43 Possible Causes for Caused by Mutation in the Fibrillin-2 Gene

  • Congenital Contractural Arachnodactyly

    Congenital contractural arachnodactyly (CCA) is caused by mutations within the fibrillin-2 gene (FBN2), which is crucial for microfibril structure.[ncbi.nlm.nih.gov] In many cases, the condition is caused by mutations in the fibrillin 2 gene (FBN2) with 26 mutations reported so far, all located in the middle region of the gene (exons 23[ncbi.nlm.nih.gov]

  • Cystocele

    Mutation of the Fibrillin-1 gene is the cause of Marfan syndrome, and POP is more prevalent in women with this disease [ 8 ].[ncbi.nlm.nih.gov] Fibrillins, which have three known forms Fibrillin-1, Fibrillin-2, and Fibrillin-3, are major structural elements of microfibrils [ 5 - 7 ].[ncbi.nlm.nih.gov]

  • Pulmonary Non-Tuberculous Mycobacterial Infection

    Congenital contractural arachnodactyly (CCA) is caused by mutations within the fibrillin-2 gene ( FBN2 ), which is crucial for microfibril structure.[ingentaconnect.com]

  • Marfan Syndrome

    It is caused by mutations in the FBN1 gene localised on chromosome 15q21, which encodes the matrix protein fibrillin 1.[doi.org] Marfan syndrome is an autosomal dominant disorder mainly caused by defects in FBN1 , the gene that codes for the protein fibrillin, although patients with mutations in other[pediatrics.aappublications.org] This figure does not appear to vary with ethnicity or geography. 2 Mutations in the gene ( FBN1 ) that encodes the extracellular matrix protein, fibrillin-1, cause classic[web.archive.org]

  • Acute Aortic Regurgitation

    1.Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15, which encodes the glycoprotein fibrillin-1, a component of the extracellular matrix. 2.Fibrillin[quizlet.com] *Congenital* Bicuspid valve. 2.*Aortopathy* - collagen disorders(marfan, ehlers danlos) 3.[quizlet.com]

  • Macular Degeneration, Early Onset

    Posted by and Miriam Garcia-Fernandez on Oct 7, 2013 in Hereditary diseases Comments Off on Mutation in the Exon 6 of Gene RDH12 Associated to Severe Early-onset Macular Degeneration Poster 4 Joaquin Castro Navarro Advantages: To show the clinical evolution of a child with a novel mutation in exon 6 of gene[…][evrs.eu]

  • Stiff Skin Syndrome

    It was first reported in 1971. 1 It is caused by pathogenic mutations in the Arg–Gly–Asp (RGD) sequence-encoding domain of fibrillin 1 ( FBN1 ) gene that mediates intergrin[ncbi.nlm.nih.gov] […] binding. 2 No previous descriptions of the ocular phenotype in SSS have been published and herein we report the ocular findings of an affected family.[ncbi.nlm.nih.gov]

  • Familial Bicuspid Aortic Valve

    Disease Entities Marfan Syndrome: Marfan syndrome (MFS), first described in 1896, is a genetic disorder caused by mutations in the fibrillin -1 ( FBN1 ) gene [ 2 ].[uscapknowledgehub.org]

  • Geleophysic Dysplasia

    Geleophysic dysplasia type 2 (MIM 614185) is autosomal dominant and is caused by heterozygous mutation in the fibrillin 1 (FBN1) gene.[ncbi.nlm.nih.gov] Several years ago, heterozygous mutations in the TGF beta 5 region of the fibrillin-1 (FBN1) gene were found to cause both geleophysic dysplasia 2 (GD2) and AD, but with a[karger.com] […] with thrombosponding repeats-like 2) gene.[ncbi.nlm.nih.gov]

  • Arthrogryposis Syndrome

    fibrillin-2 gene ( FBN2 ), which is crucial for microfibril structure.[bredagenetics.com] Due to its genetic etiology, it show some clinical overlap with Marfan syndrome, which is caused by mutation in the fibrillin-1 gene ( FBN1 ).[bredagenetics.com] Summary Distal arthrogryposis type 9 ( DA9 – also known as congenital contractural arachnodactyly or Beals / Beals-Hecht syndrome ) is caused by heterozygous mutation in the[bredagenetics.com]

Further symptoms