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Disease Tuberous Sclerosis

Name Tuberous Sclerosis
Synonyms Adenoma Sebaceum | Bourneville Disease | Bourneville Phacomatosis | Bourneville Phakomatosis | Bourneville Pringle Disease | Bourneville-Pringle Disease | Bourneville Pringle's Disease | Bourneville-Pringle's Disease | Bourneville-Pringles Disease | Bourneville's Disease | Bourneville's Syndrome | Bourneville Syndrome | Cerebral Scleroses | Cerebral Sclerosis | Disease, Bourneville-Pringle | Disease, Bourneville-Pringle's | Epiloia | Phacomatosis, Bourneville | Phakomatosis, Bourneville | Sclerosis, Cerebral | Sclerosis Tuberosa | Sclerosis, Tuberose | Sclerosis, Tuberous | Syndrome, Bourneville | Syndrome, Bourneville's | Tuberose Sclerosis | Tuberous Sclerosis Complex
Definition 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.
Categories Cancer | Congenital abnormality | Genetic disease (inborn) | Nervous system disease
MeSH® ID D014402
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Top ↑ Ancestors

1. DiseasesNeoplasms Has associated chemicals Has associated genes Has associated exposure references Hamartoma Has associated chemicals Has associated genes Tuberous Sclerosis Has associated chemicals Has associated genes
2. DiseasesNeoplasms Has associated chemicals Has associated genes Has associated exposure references Neoplasms, Multiple Primary Has associated chemicals Has associated genes Tuberous Sclerosis Has associated chemicals Has associated genes
3. DiseasesNeoplasms Has associated chemicals Has associated genes Has associated exposure references Neoplastic Syndromes, Hereditary Has associated chemicals Has associated genes Has associated exposure references Tuberous Sclerosis Has associated chemicals Has associated genes
4. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group I Has associated chemicals Has associated genes Tuberous Sclerosis Has associated chemicals Has associated genes
5. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurocutaneous Syndromes Has associated chemicals Has associated genes Tuberous Sclerosis Has associated chemicals Has associated genes
6. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Tuberous Sclerosis Has associated chemicals Has associated genes
7. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group I Has associated chemicals Has associated genes Tuberous Sclerosis Has associated chemicals Has associated genes
8. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Tuberous Sclerosis Has associated chemicals Has associated genes
9. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Neoplastic Syndromes, Hereditary Has associated chemicals Has associated genes Has associated exposure references Tuberous Sclerosis Has associated chemicals Has associated genes

Top ↑ Descendants

Tuberous Sclerosis Has associated chemicals Has associated genes
  Polycystic kidneys, severe infantile with tuberous sclerosis Has associated genes
  Tsc2 Angiomyolipomas, Renal, Modifier Of
  Tuberous Sclerosis 1 Has associated chemicals Has associated genes
  Tuberous Sclerosis 2 Has associated chemicals Has associated genes