Related MeSH Hierarchy (9)
Diseases [C] » Neoplasms [C04] » Neoplasms, Multiple Primary » Tuberous Sclerosis
Diseases [C] » Neoplasms [C04] » Neoplastic Syndromes, Hereditary » Tuberous Sclerosis
Diseases [C] » Nervous System Diseases [C10] » Nervous System Malformations » Malformations of Cortical Development » Malformations of Cortical Development, Group I » Tuberous Sclerosis
Diseases [C] » Nervous System Diseases [C10] » Neurocutaneous Syndromes » Tuberous Sclerosis
Diseases [C] » Nervous System Diseases [C10] » Neurodegenerative Diseases » Heredodegenerative Disorders, Nervous System » Tuberous Sclerosis
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Nervous System Malformations » Malformations of Cortical Development » Malformations of Cortical Development, Group I » Tuberous Sclerosis
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Tuberous Sclerosis
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Neoplastic Syndromes, Hereditary » Tuberous Sclerosis
Description
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. MeSH
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Approved Indicated Drugs (2)
Phase 4 Indicated Drugs (1)
Phase 3 Indicated Drugs (2)
Phase 2 Indicated Drugs (5)
Phase 1 Indicated Drugs (2)
Other Experimental Indicated Drugs (1)
Organization Involved with Phase 4 Indications (5)
Organization Involved with Phase 3 Indications (8)
Organization Involved with Phase 2 Indications (21)
Organization Involved with Phase 1 Indications (2)
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UMLS Data
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