Neuronal Ceroid-Lipofuscinoses [neuronální ceroidlipofuscinózy]

topical
29
Terms

adultní neuronální ceroidlipofuscinóza
adultní neuronová ceroidlipofuscinóza
autozomálně dominantní Kufsova nemoc
Battenova nemoc
Battenova-Mayouova choroba
Battenova-Spielmeyerova-Vogtova nemoc
CLN4A
CLN4B
infantilní neuronální ceroidlipofuscinóza
infantilní neuronová ceroidlipofuscinóza
Janského-Bielschowského nemoc
juvenilní neuronální ceroidlipofuscinóza
juvenilní neuronová ceroidlipofuscinóza
Kufsova nemoc
neuronální ceroidní lipofuscinóza
neuronální lipofuscinóza s ceroidózou
neuronální lipofuscinózy s ceroidózou
neuronová ceroidlipofuscinóza
neuronová ceroidlipofuscinóza v dospělosti
neuronové ceroidlipofuscinózy
pozdní infantilní neuronální ceroidlipofuscinóza
pozdní infantilní neuronová ceroidlipofuscinóza
Santavuoriova-Haltiova nemoc
Spielmeyerova-Vogtova choroba
Vogtova-Spielmeyerova choroba

 

Adult Neuronal Ceroid Lipofuscinosis
Amaurotic Idiocy, Adult Type
Batten Disease
Batten-Mayou Disease
Batten-Spielmeyer-Vogt Disease
Ceroid Lipofuscinosis, Neuronal 3, Juvenile
Ceroid Lipofuscinosis, Neuronal 4
Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive
Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant
Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Storage Disease
Ceroid-Lipofuscinosis, Neuronal
CLN3-Related Neuronal Ceroid-Lipofuscinosis
CLN4A
CLN4B
Infantile Neuronal Ceroid Lipofuscinosis
Jansky-Bielschowsky Disease
Juvenile Batten Disease
Juvenile Cerebroretinal Degeneration
Juvenile Neuronal Ceroid Lipofuscinosis
Kuf's Disease
Kufs Disease
Kufs Disease Autosomal Recessive
Kufs Disease, Autosomal Dominant
Kufs Disease, Autosomal Recessive
Kufs Type Neuronal Ceroid Lipofuscinosis
Late-Infantile Neuronal Ceroid Lipofuscinosis
Lipofuscin Storage Disease
Lipofuscinosis, Neuronal Ceroid
Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis Juvenile Type
Neuronal Ceroid Lipofuscinosis, Adult
Neuronal Ceroid Lipofuscinosis, Adult Type
Neuronal Ceroid Lipofuscinosis, Infantile
Neuronal Ceroid Lipofuscinosis, Juvenile
Neuronal Ceroid Lipofuscinosis, Late Infantile
Neuronal Ceroid Lipofuscinosis, Late-Infantile
Neuronal Ceroid-Lipofuscinosis
Santavuori-Haltia Disease
Spielmeyer-Sjogren Disease
Spielmeyer-Vogt Disease
Vogt Spielmeyer Disease
Vogt-Spielmeyer Disease

Persistent link   https://www.medvik.cz/link/D009472
Definition

A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.

DUI
D009472 MeSH Browser
CUI
M0014734
Previous indexing
Ceroid (1975-1982); Lipofuscin (1975-1982); Lipoidosis (1966-1982); Pigments (1966-1982)
History note
2007 (1983)
Public note
2007; see NEURONAL CEROID-LIPOFUSCINOSIS 1983-2006

C Diseases
C10.574.500.024 Alexander Disease 6
C10.574.500.300 Canavan Disease 9
C10.574.500.362 Cockayne Syndrome 4
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
C10.574.500.850 Tourette Syndrome 86
C10.574.500.865 Tuberous Sclerosis 141
C16.320.400.024 Alexander Disease 6
C16.320.400.150 Canavan Disease 9
C16.320.400.200 Cockayne Syndrome 4
C16.320.400.430 Huntington Disease 322
C16.320.400.480 Lafora Disease 1
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
C16.320.400.820 Tourette Syndrome 86
C16.320.400.880 Tuberous Sclerosis 141
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.641.201 Cholesterol Ester Storage Disease 13
C16.320.565.398.641.509 Neuronal Ceroid-Lipofuscinoses 29
C16.320.565.398.641.723 Sjogren-Larsson Syndrome 4
C16.320.565.398.641.803 Sphingolipidoses 12
C18.452 Metabolic Diseases 1 196
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.641.201 Cholesterol Ester Storage Disease 13
C18.452.584.563.641.509 Neuronal Ceroid-Lipofuscinoses 29
C18.452.584.563.641.723 Sjogren-Larsson Syndrome 4
C18.452.584.563.641.803 Sphingolipidoses 12
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.641.201 Cholesterol Ester Storage Disease 13
C18.452.648.398.641.509 Neuronal Ceroid-Lipofuscinoses 29
C18.452.648.398.641.723 Sjogren-Larsson Syndrome 4
C18.452.648.398.641.803 Sphingolipidoses 12