Hepatolenticular Degeneration [hepatolentikulární degenerace]

topical
243
Terms

jaterní forma Wilsonovy nemoci
progresivní lentikulární degenerace
pseudoskleróza
Westfal-Strümpellova pseudoskleróza
Westphalova-Strümpellova pseudoskleróza
Wilsonova choroba
Wilsonova choroba - jaterní forma
Wilsonova nemoc

 

Cerebral Pseudosclerosis
Copper Storage Disease
Hepatic Form of Wilson Disease
Hepato-Neurologic Wilson Disease
Hepatocerebral Degeneration
Hepatolenticular Degeneration Syndrome
Kinnier-Wilson Disease
Neurohepatic Degeneration
Progressive Lenticular Degeneration
Pseudosclerosis
Westphal-Strumpell Syndrome
Wilson Disease
Wilson Disease, Hepatic Form
Wilson's Disease

Persistent link   https://www.medvik.cz/link/D006527
Definition

A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.

Annotation
lenticular refers to the lenticular nucleus in the brain
lentikulární se vztahuje k čočkovitému jádru v mozku (nucleus lentiformis)
DUI
D006527 MeSH Browser
CUI
M0010235
History note
1964(1963)
Public note
1964; see HEPATO-LENTICULAR DEGENERATION 1963

Allowable subheadings

BL
blood 10
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 3
CO
complications 36
DI
diagnosis 115
DG
diagnostic imaging 12
DH
diet therapy 2
DT
drug therapy 57
EC
economics
EM
embryology
EN
enzymology 2
EP
epidemiology 2
EH
ethnology
ET
etiology 44
GE
genetics 43
HI
history 1
IM
immunology 1
ME
metabolism 18
MI
microbiology
MO
mortality 4
NU
nursing 1
PS
parasitology
PA
pathology 24
PP
physiopathology 20
PC
prevention & control 1
PX
psychology 4
RT
radiotherapy
RH
rehabilitation
SU
surgery 7
TH
therapy 47
UR
urine 4
VE
veterinary
VI
virology

C Diseases
C06 Digestive System Diseases 673
C06.552 Liver Diseases 3 016
C06.552.074 alpha 1-Antitrypsin Deficiency 83
C06.552.100 Chemical and Drug Induced Liver Injury 269
C06.552.150 Cholestasis, Intrahepatic 163
C06.552.241 Fatty Liver 368
C06.552.270 Focal Nodular Hyperplasia 18
C06.552.289 Hepatic Infarction
C06.552.308 Hepatic Insufficiency 39
C06.552.347 Budd-Chiari Syndrome 45
C06.552.360 Hepatic Veno-Occlusive Disease 23
C06.552.380 Hepatitis 734
C06.552.413 Hepatolenticular Degeneration 243
C06.552.416 Hepatomegaly 116
C06.552.455 Hepatopulmonary Syndrome 8
C06.552.465 Hepatorenal Syndrome 91
C06.552.494 Hypertension, Portal 647
C06.552.597 Liver Abscess 50
C06.552.630 Liver Cirrhosis 1 534
C06.552.645 Liver Diseases, Alcoholic 94
C06.552.664 Liver Diseases, Parasitic 56
C06.552.697 Liver Neoplasms 1 658
C06.552.802 Peliosis Hepatis
C06.552.830 Porphyrias, Hepatic 26
C06.552.933 Tuberculosis, Hepatic 9
C06.552.970 Zellweger Syndrome 10
C10 Nervous System Diseases 1 878
C10.228 Central Nervous System Diseases 808
C10.228.140 Brain Diseases 1 178
C10.228.140.079 Basal Ganglia Diseases 100
C10.228.140.079.127 Basal Ganglia Cerebrovascular Disease 8
C10.228.140.079.294 Chorea Gravidarum 2
C10.228.140.079.357 Dystonia Musculorum Deformans 3
C10.228.140.079.493 Hepatolenticular Degeneration 243
C10.228.140.079.545 Huntington Disease 322
C10.228.140.079.590 Meige Syndrome 9
C10.228.140.079.612 Multiple System Atrophy 56
C10.228.140.079.737 Neuroleptic Malignant Syndrome 46
C10.228.140.079.800 Pantothenate Kinase-Associated Neurodegeneration 17
C10.228.140.079.862 Parkinsonian Disorders 301
C10.228.140.079.882 Supranuclear Palsy, Progressive 50
C10.228.140.079.898 Tourette Syndrome 86
C10.228.140.163 Brain Diseases, Metabolic 84
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 26
C10.228.140.163.100.084 Adrenoleukodystrophy 41
C10.228.140.163.100.168 Cerebral Amyloid Angiopathy, Familial 1
C10.228.140.163.100.320 Galactosemias 44
C10.228.140.163.100.355 Hartnup Disease 2
C10.228.140.163.100.360 Hepatolenticular Degeneration 243
C10.228.140.163.100.362 Hereditary Central Nervous System Demyelinating Diseases 11
C10.228.140.163.100.365 Homocystinuria 107
C10.228.140.163.100.375 Hyperglycinemia, Nonketotic 7
C10.228.140.163.100.380 Hyperlysinemias
C10.228.140.163.100.412 Leigh Disease 26
C10.228.140.163.100.425 Lesch-Nyhan Syndrome 20
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 13
C10.228.140.163.100.520 Maple Syrup Urine Disease 8
C10.228.140.163.100.535 MELAS Syndrome 17
C10.228.140.163.100.540 Menkes Kinky Hair Syndrome 12
C10.228.140.163.100.545 MERRF Syndrome 4
C10.228.140.163.100.593 Mevalonate Kinase Deficiency 16
C10.228.140.163.100.640 Oculocerebrorenal Syndrome 9
C10.228.140.163.100.687 Phenylketonurias 285
C10.228.140.163.100.725 Pyruvate Carboxylase Deficiency Disease
C10.228.140.163.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C10.228.140.163.100.813 Refsum Disease 6
C10.228.140.163.100.844 Refsum Disease, Infantile
C10.228.140.163.100.875 Tyrosinemias 18
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn 7
C10.228.140.163.100.968 Zellweger Syndrome 10
C10.228.662 Movement Disorders 914
C10.228.662.037 Akathisia, Drug-Induced 29
C10.228.662.075 Angelman Syndrome 35
C10.228.662.262 Dyskinesias 88
C10.228.662.300 Dystonic Disorders 81
C10.228.662.350 Essential Tremor 55
C10.228.662.400 Hepatolenticular Degeneration 243
C10.228.662.550 Multiple System Atrophy 56
C10.228.662.575 Pantothenate Kinase-Associated Neurodegeneration 17
C10.228.662.600 Parkinsonian Disorders 301
C10.228.662.700 Supranuclear Palsy, Progressive 50
C10.228.662.825 Tic Disorders 25
C10.574 Neurodegenerative Diseases 641
C10.574.500 Heredodegenerative Disorders, Nervous System 45
C10.574.500.024 Alexander Disease 6
C10.574.500.050 Amyloid Neuropathies, Familial 20
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 322
C10.574.500.529 Lafora Disease 1
C10.574.500.545 Myotonia Congenita 17
C10.574.500.547 Myotonic Dystrophy 94
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 141
C10.574.500.875 Unverricht-Lundborg Syndrome 1
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.400 Heredodegenerative Disorders, Nervous System 45
C16.320.400.024 Alexander Disease 6
C16.320.400.050 Amyloid Neuropathies, Familial 20
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 322
C16.320.400.480 Lafora Disease 1
C16.320.400.525 X-Linked Intellectual Disability 17
C16.320.400.540 Myotonia Congenita 17
C16.320.400.542 Myotonic Dystrophy 94
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 141
C16.320.400.940 Unverricht-Lundborg Syndrome 1
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.189 Brain Diseases, Metabolic, Inborn 26
C16.320.565.189.084 Adrenoleukodystrophy 41
C16.320.565.189.168 Cerebral Amyloid Angiopathy, Familial 1
C16.320.565.189.320 Galactosemias 44
C16.320.565.189.355 Hartnup Disease 2
C16.320.565.189.360 Hepatolenticular Degeneration 243
C16.320.565.189.362 Hereditary Central Nervous System Demyelinating Diseases 11
C16.320.565.189.365 Homocystinuria 107
C16.320.565.189.375 Hyperglycinemia, Nonketotic 7
C16.320.565.189.380 Hyperlysinemias
C16.320.565.189.412 Leigh Disease 26
C16.320.565.189.425 Lesch-Nyhan Syndrome 20
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.189.520 Maple Syrup Urine Disease 8
C16.320.565.189.535 MELAS Syndrome 17
C16.320.565.189.540 Menkes Kinky Hair Syndrome 12
C16.320.565.189.545 MERRF Syndrome 4
C16.320.565.189.593 Mevalonate Kinase Deficiency 16
C16.320.565.189.640 Oculocerebrorenal Syndrome 9
C16.320.565.189.687 Phenylketonurias 285
C16.320.565.189.725 Pyruvate Carboxylase Deficiency Disease
C16.320.565.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C16.320.565.189.813 Refsum Disease 6
C16.320.565.189.844 Refsum Disease, Infantile
C16.320.565.189.875 Tyrosinemias 18
C16.320.565.189.937 Urea Cycle Disorders, Inborn 7
C16.320.565.189.968 Zellweger Syndrome 10
C16.320.565.618 Metal Metabolism, Inborn Errors 16
C16.320.565.618.337 Hemochromatosis 198
C16.320.565.618.403 Hepatolenticular Degeneration 243
C16.320.565.618.482 Hypophosphatasia 16
C16.320.565.618.544 Hypophosphatemia, Familial 12
C16.320.565.618.590 Menkes Kinky Hair Syndrome 12
C16.320.565.618.711 Paralyses, Familial Periodic 7
C16.320.565.618.815 Pseudohypoparathyroidism 31
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.132 Brain Diseases, Metabolic 84
C18.452.132.100 Brain Diseases, Metabolic, Inborn 26
C18.452.132.100.084 Adrenoleukodystrophy 41
C18.452.132.100.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.132.100.320 Galactosemias 44
C18.452.132.100.355 Hartnup Disease 2
C18.452.132.100.360 Hepatolenticular Degeneration 243
C18.452.132.100.362 Hereditary Central Nervous System Demyelinating Diseases 11
C18.452.132.100.365 Homocystinuria 107
C18.452.132.100.375 Hyperglycinemia, Nonketotic 7
C18.452.132.100.380 Hyperlysinemias
C18.452.132.100.412 Leigh Disease 26
C18.452.132.100.425 Lesch-Nyhan Syndrome 20
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.132.100.520 Maple Syrup Urine Disease 8
C18.452.132.100.535 MELAS Syndrome 17
C18.452.132.100.540 Menkes Kinky Hair Syndrome 12
C18.452.132.100.545 MERRF Syndrome 4
C18.452.132.100.593 Mevalonate Kinase Deficiency 16
C18.452.132.100.640 Oculocerebrorenal Syndrome 9
C18.452.132.100.687 Phenylketonurias 285
C18.452.132.100.725 Pyruvate Carboxylase Deficiency Disease
C18.452.132.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.132.100.813 Refsum Disease 6
C18.452.132.100.844 Refsum Disease, Infantile
C18.452.132.100.875 Tyrosinemias 18
C18.452.132.100.937 Urea Cycle Disorders, Inborn 7
C18.452.132.100.968 Zellweger Syndrome 10
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.189 Brain Diseases, Metabolic, Inborn 26
C18.452.648.189.084 Adrenoleukodystrophy 41
C18.452.648.189.168 Cerebral Amyloid Angiopathy, Familial 1
C18.452.648.189.320 Galactosemias 44
C18.452.648.189.355 Hartnup Disease 2
C18.452.648.189.360 Hepatolenticular Degeneration 243
C18.452.648.189.362 Hereditary Central Nervous System Demyelinating Diseases 11
C18.452.648.189.365 Homocystinuria 107
C18.452.648.189.375 Hyperglycinemia, Nonketotic 7
C18.452.648.189.380 Hyperlysinemias
C18.452.648.189.412 Leigh Disease 26
C18.452.648.189.425 Lesch-Nyhan Syndrome 20
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.189.520 Maple Syrup Urine Disease 8
C18.452.648.189.535 MELAS Syndrome 17
C18.452.648.189.540 Menkes Kinky Hair Syndrome 12
C18.452.648.189.545 MERRF Syndrome 4
C18.452.648.189.593 Mevalonate Kinase Deficiency 16
C18.452.648.189.640 Oculocerebrorenal Syndrome 9
C18.452.648.189.687 Phenylketonurias 285
C18.452.648.189.725 Pyruvate Carboxylase Deficiency Disease
C18.452.648.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C18.452.648.189.813 Refsum Disease 6
C18.452.648.189.844 Refsum Disease, Infantile
C18.452.648.189.875 Tyrosinemias 18
C18.452.648.189.937 Urea Cycle Disorders, Inborn 7
C18.452.648.189.968 Zellweger Syndrome 10
C18.452.648.618 Metal Metabolism, Inborn Errors 16
C18.452.648.618.337 Hemochromatosis 198
C18.452.648.618.403 Hepatolenticular Degeneration 243
C18.452.648.618.482 Hypophosphatasia 16
C18.452.648.618.544 Hypophosphatemia, Familial 12
C18.452.648.618.590 Menkes Kinky Hair Syndrome 12
C18.452.648.618.711 Paralyses, Familial Periodic 7
C18.452.648.618.815 Pseudohypoparathyroidism 31

Copper-Overload Cirrhosis Disease MeSH Browser

Westphal disease Disease MeSH Browser

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