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Tuberous sclerosis 2

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Description

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical dysplasias, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Heterogeneous

VARIANTS

3,259

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Genes

External Links

  • OMIM

    613254

  • Orphanet
  • HPO
  • Medgen

    C1860707

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