Tuberous Sclerosis

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.

Also Known As:

Bourneville's Disease; Bourneville Phakomatosis; Bourneville Disease; Epiloia; Adenoma Sebaceum; Bourneville Syndrome; Bourneville's Syndrome; Bourneville-Pringle Disease; Bourneville-Pringle's Disease; Cerebral Sclerosis; Phacomatosis, Bourneville; Sclerosis Tuberosa; Tuberose Sclerosis; Tuberous Sclerosis Complex; Bourneville Phacomatosis; Bourneville Pringle Disease; Bourneville Pringle's Disease; Bourneville-Pringles Disease; Cerebral Scleroses; Disease, Bourneville-Pringle; Disease, Bourneville-Pringle's; Sclerosis, Cerebral; Sclerosis, Tuberose; Sclerosis, Tuberous; Syndrome, Bourneville; Syndrome, Bourneville's; Phakomatosis, Bourneville

Neoplasms: 1361496
- Hamartoma: 1358
  - Tuberous Sclerosis: 4539
- Hereditary Neoplastic Syndromes: 115
  - Tuberous Sclerosis: 4539
- Multiple Primary Neoplasms: 24
  - Tuberous Sclerosis: 4539
Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Tuberous Sclerosis: 4539
- Neurocutaneous Syndromes: 269
  - Tuberous Sclerosis: 4539
- Nervous System Malformations: 36
  - Malformations of Cortical Development: 383
    - Group I Malformations of Cortical Development
      - Tuberous Sclerosis: 4539
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Nervous System Malformations: 36
    - Malformations of Cortical Development: 383
      - Group I Malformations of Cortical Development
        Tuberous Sclerosis: 4539
- Inborn Genetic Diseases: 12342
  - Hereditary Neoplastic Syndromes: 115
    - Tuberous Sclerosis: 4539
  - Nervous System Heredodegenerative Disorders: 62
    - Tuberous Sclerosis: 4539

C D M van Karnebeek Selected Research

C D M van Karnebeek Research Topics

Disease

Drug/Important Bio-Agent (IBA)