Number of the records: 1
skleróza tuberózna
Record number d014402 Date 06.06.2025 Type M - MESH Topical term skleróza tuberózna Other term English (Pseudonym) Bourneville Disease
English (Pseudonym) Epiloia
English (Pseudonym) Phakomatosis, Bourneville
Slovak (Pseudonym) Bournevilleov syndróm
Slovak (Pseudonym) Bournevillov syndróm
Slovak (Pseudonym) Bournevilleov-Pringleov syndróm
Slovak (Pseudonym) Bournevillov-Pringleov syndróm
Slovak (Pseudonym) Bournevilleova-Pringleova choroba
Slovak (Pseudonym) Bournevillova-Pringleova choroba
Slovak (Pseudonym) Bournevilleova choroba
Slovak (Pseudonym) Bournevillova choroba
Slovak (Pseudonym) epiloia
Slovak (Pseudonym) Bournevilleova fakomatóza
Slovak (Pseudonym) skleróza mozgová
Slovak (Pseudonym) sclerosis tuberosa
Slovak (Pseudonym) komplex tuberóznej sklerózy
Slovak (Pseudonym) adenoma sebaceum
Slovak (Pseudonym) skleróza cerebrálna
See also (Later heading) fibróm
UDC C04.445.810C04.651.800C04.700.700C10.500.507.400.750C10.562.850C10.574.500.865C16.131.666.507.400.750C16.320.400.880C16.320.700.700 Note 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. 
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Number of the records: 1