Concept information
Término preferido
Tuberous Sclerosis
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Tipo
-
mesh:Descriptor
Definición
- Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease. Facial ANGIOFIBROMA in tuberous sclerosis
Concepto genérico
Etiquetas alternativas
- Bourneville Disease
- Bourneville Phakomatosis
- Bourneville Syndrome
- Bourneville-Pringle Disease
- Bourneville-Pringle's Disease
- Bourneville's Disease
- Bourneville's Syndrome
- Cerebral Sclerosis
- Epiloia
- Phacomatosis, Bourneville
- Phakomatosis, Bourneville
- Sclerosis Tuberosa
- Tuberose Sclerosis
- Tuberous Sclerosis Complex
En otras lenguas
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francés
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Epilepsy-low intelligence-adenoma sebaceum
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Epiloïa
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Maladie de Bourneville
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Maladie de Bourneville-Pringle
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Phacomatose de Bourneville
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Sclérose tubéreuse de Bourneville
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Sclérose tubéreuse du cerveau
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STB (Sclérose Tubéreuse de Bourneville)
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Syndrome de Bourneville
URI
http://data.loterre.fr/ark:/67375/JVR-WLDDD91P-J
Conceptos equivalentes
id.nlm.nih.gov
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