Tuberous Sclerosis [tuberózní skleróza]

topical
143
Terms

adenom z mazových žláz v obličeji
adenoma sebaceum
Bournevilleova choroba
Bournevilleova nemoc
Bournevilleova-Pringleova nemoc
Pringleova nemoc
Pringleův adenom
Pringleův-Bournevilleův syndrom
tuberskleróza

 

Adenoma Sebaceum
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

Persistent link   https://www.medvik.cz/link/D014402
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.

DUI
D014402 MeSH Browser
CUI
M0022136

Allowable subheadings

BL
blood 1
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications 46
CN
congenital 2
DI
diagnosis 62
DG
diagnostic imaging 6
DH
diet therapy
DT
drug therapy 14
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology 2
EH
ethnology
ET
etiology 24
GE
genetics 55
HI
history 1
IM
immunology
ME
metabolism 4
MI
microbiology
MO
mortality 1
NU
nursing
PS
parasitology
PA
pathology 28
PP
physiopathology 14
PC
prevention & control 2
PX
psychology 4
RT
radiotherapy
RH
rehabilitation
SU
surgery 4
TH
therapy 18
UR
urine
VE
veterinary
VI
virology

C Diseases
C04 Neoplasms 12 814
C04.445 Hamartoma 128
C04.445.435 Hamartoma Syndrome, Multiple 25
C04.445.622 Pallister-Hall Syndrome
C04.445.810 Tuberous Sclerosis 143
C04.651 Neoplasms, Multiple Primary 159
C04.651.435 Hamartoma Syndrome, Multiple 25
C04.651.600 Multiple Endocrine Neoplasia 33
C04.651.800 Tuberous Sclerosis 143
C04.700 Neoplastic Syndromes, Hereditary 144
C04.700.100 Adenomatous Polyposis Coli 92
C04.700.175 Basal Cell Nevus Syndrome 33
C04.700.212 Birt-Hogg-Dube Syndrome 8
C04.700.250 Colorectal Neoplasms, Hereditary Nonpolyposis 114
C04.700.305 Dysplastic Nevus Syndrome 17
C04.700.330 Exostoses, Multiple Hereditary 12
C04.700.435 Hamartoma Syndrome, Multiple 25
C04.700.517 Hereditary Breast and Ovarian Cancer Syndrome 53
C04.700.600 Li-Fraumeni Syndrome 39
C04.700.630 Multiple Endocrine Neoplasia 33
C04.700.631 Neurofibromatoses 28
C04.700.633 Peutz-Jeghers Syndrome 37
C04.700.700 Tuberous Sclerosis 143
C04.700.900 Wilms Tumor 112
C10 Nervous System Diseases 1 879
C10.500 Nervous System Malformations 80
C10.500.507 Malformations of Cortical Development 50
C10.500.507.400 Malformations of Cortical Development, Group I 1
C10.500.507.400.125 Focal Cortical Dysplasia 12
C10.500.507.400.187 Hippocampal Sclerosis 1
C10.500.507.400.249 Megalencephaly 7
C10.500.507.400.500 Microcephaly 78
C10.500.507.400.750 Tuberous Sclerosis 143
C10.562 Neurocutaneous Syndromes 29
C10.562.100 Ataxia Telangiectasia 47
C10.562.600 Neurofibromatoses 28
C10.562.700 Nevus, Sebaceous of Jadassohn 7
C10.562.800 Sturge-Weber Syndrome 25
C10.562.850 Tuberous Sclerosis 143
C10.562.925 von Hippel-Lindau Disease 56
C10.574 Neurodegenerative Diseases 643
C10.574.500 Heredodegenerative Disorders, Nervous System 45
C10.574.500.024 Alexander Disease 6
C10.574.500.050 Amyloid Neuropathies, Familial 21
C10.574.500.175 Bulbo-Spinal Atrophy, X-Linked 8
C10.574.500.300 Canavan Disease 9
C10.574.500.362 Cockayne Syndrome 4
C10.574.500.393 Dystonia Musculorum Deformans 3
C10.574.500.425 Gerstmann-Straussler-Scheinker Disease 22
C10.574.500.487 Hepatolenticular Degeneration 243
C10.574.500.490 Hereditary Central Nervous System Demyelinating Diseases 11
C10.574.500.493 Hereditary Sensory and Autonomic Neuropathies 26
C10.574.500.495 Hereditary Sensory and Motor Neuropathy 71
C10.574.500.497 Huntington Disease 325
C10.574.500.529 Lafora Disease 1
C10.574.500.545 Myotonia Congenita 17
C10.574.500.547 Myotonic Dystrophy 95
C10.574.500.549 Neurofibromatoses 28
C10.574.500.550 Neuronal Ceroid-Lipofuscinoses 29
C10.574.500.662 Optic Atrophies, Hereditary 5
C10.574.500.700 Pantothenate Kinase-Associated Neurodegeneration 17
C10.574.500.812 Spinal Muscular Atrophies of Childhood 59
C10.574.500.825 Spinocerebellar Degenerations 30
C10.574.500.850 Tourette Syndrome 86
C10.574.500.865 Tuberous Sclerosis 143
C10.574.500.875 Unverricht-Lundborg Syndrome 1
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 749
C16.131.666 Nervous System Malformations 80
C16.131.666.507 Malformations of Cortical Development 50
C16.131.666.507.400 Malformations of Cortical Development, Group I 1
C16.131.666.507.400.125 Focal Cortical Dysplasia 12
C16.131.666.507.400.187 Hippocampal Sclerosis 1
C16.131.666.507.400.249 Megalencephaly 7
C16.131.666.507.400.500 Microcephaly 78
C16.131.666.507.400.750 Tuberous Sclerosis 143
C16.320 Genetic Diseases, Inborn 1 214
C16.320.400 Heredodegenerative Disorders, Nervous System 45
C16.320.400.024 Alexander Disease 6
C16.320.400.050 Amyloid Neuropathies, Familial 21
C16.320.400.100 Bulbo-Spinal Atrophy, X-Linked 8
C16.320.400.150 Canavan Disease 9
C16.320.400.200 Cockayne Syndrome 4
C16.320.400.330 Dystonia Musculorum Deformans 3
C16.320.400.350 Gerstmann-Straussler-Scheinker Disease 22
C16.320.400.361 Hepatolenticular Degeneration 243
C16.320.400.367 Hereditary Central Nervous System Demyelinating Diseases 11
C16.320.400.375 Hereditary Sensory and Motor Neuropathy 71
C16.320.400.415 Hereditary Sensory and Autonomic Neuropathies 26
C16.320.400.430 Huntington Disease 325
C16.320.400.480 Lafora Disease 1
C16.320.400.525 X-Linked Intellectual Disability 18
C16.320.400.540 Myotonia Congenita 17
C16.320.400.542 Myotonic Dystrophy 95
C16.320.400.550 Neuroacanthocytosis 6
C16.320.400.560 Neurofibromatoses 28
C16.320.400.600 Neuronal Ceroid-Lipofuscinoses 29
C16.320.400.630 Optic Atrophies, Hereditary 5
C16.320.400.650 Pantothenate Kinase-Associated Neurodegeneration 17
C16.320.400.765 Spinal Muscular Atrophies of Childhood 59
C16.320.400.780 Spinocerebellar Degenerations 30
C16.320.400.820 Tourette Syndrome 86
C16.320.400.880 Tuberous Sclerosis 143
C16.320.400.940 Unverricht-Lundborg Syndrome 1
C16.320.700 Neoplastic Syndromes, Hereditary 144
C16.320.700.100 Adenomatous Polyposis Coli 92
C16.320.700.175 Basal Cell Nevus Syndrome 33
C16.320.700.212 Birt-Hogg-Dube Syndrome 8
C16.320.700.250 Colorectal Neoplasms, Hereditary Nonpolyposis 114
C16.320.700.305 Dysplastic Nevus Syndrome 17
C16.320.700.330 Exostoses, Multiple Hereditary 12
C16.320.700.435 Hamartoma Syndrome, Multiple 25
C16.320.700.517 Hereditary Breast and Ovarian Cancer Syndrome 53
C16.320.700.600 Li-Fraumeni Syndrome 39
C16.320.700.630 Multiple Endocrine Neoplasia 33
C16.320.700.633 Neurofibromatoses 28
C16.320.700.667 Peutz-Jeghers Syndrome 37
C16.320.700.700 Tuberous Sclerosis 143
C16.320.700.900 Wilms Tumor 112

Polycystic kidneys, severe infantile with tuberous sclerosis Disease MeSH Browser

Tsc2 Angiomyolipomas, Renal, Modifier Of Disease MeSH Browser

Tuberous Sclerosis 1 Disease MeSH Browser

Tuberous Sclerosis 2 Disease MeSH Browser

Add