MeSH 搜索器

Marfan Syndrome

An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.
推出的年份: 1985
副标题
树号: C05.116.099.674, C14.240.400.725, C14.280.400.725, C16.131.077.550, C16.131.240.400.720, C16.320.540, C17.300.500
MeSH 单一 ID: D008382
进入的组:
  • Marfan's Syndrome
  • Marfans Syndrome
  • Marfan Syndrome Type 1
  • Marfan Syndrome, Type I
  • Marfan Syndrome Type 2
  • Marfan Syndrome, Type II
  • Marfan Like Connective Tissue Disorder

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