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Results 1 - 8 of 8 for FBN1
  1. Marfan syndrome 
    ... 1 in 5,000 worldwide. Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin- ...
    https://medlineplus.gov/genetics/condition/marfan-syndrome - Genetics
  2. Weill-Marchesani syndrome 
    ... 100,000 people. Mutations in the ADAMTS10 and FBN1 genes can cause Weill-Marchesani syndrome. The ADAMTS10 ... of Weill-Marchesani syndrome.A mutation in the FBN1 gene has also been found to cause Weill- ...
    https://medlineplus.gov/genetics/condition/weill-marchesani-syndrome - Genetics
  3. Acromicric dysplasia 
    ... Acromicric dysplasia is caused by mutations in the FBN1 gene, which provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells ...
    https://medlineplus.gov/genetics/condition/acromicric-dysplasia - Genetics
  4. Isolated ectopia lentis 
    ... about 75 percent) are syndromic. Mutations in the FBN1 or ADAMTSL4 gene cause isolated ectopia lentis. These ... in position by these filaments.Mutations in the FBN1 or ADAMTSL4 gene impair protein function and lead ...
    https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis - Genetics
  5. Congenital contractural arachnodactyly 
    ... The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to ... body.Mutations in the FBN2 gene can decrease fibrillin-2 production or result in the production of ...
    https://medlineplus.gov/.../congenital-contractural-arachnodactyly - Genetics
  6. Shprintzen-Goldberg syndrome 
    ... in some cases, the genetic cause is unknown. FBN1 SKI Shprintzen-Goldberg syndrome is described as autosomal ... Krause WL, McIntosh I, Dietz HC. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  7. Familial thoracic aortic aneurysm and dissection 
    ... identified, are also associated with familial TAAD. ACTA2 FBN1 MYH11 SMAD3 TGFBR1 TGFBR2 Additional Information from NCBI ... Franco LM, Coselli JS, Milewicz DM, Belmont JW. FBN1 mutations in patients with descending thoracic aortic dissections. ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics
  8. Geleophysic dysplasia 
    ... and the other features of this condition. ADAMTSL2 FBN1 This condition is inherited in an autosomal recessive ...
    https://medlineplus.gov/genetics/condition/geleophysic-dysplasia - Genetics