| Descriptor English: | Neuronal Ceroid-Lipofuscinoses | ||||||
| Descriptor Spanish: |
Lipofuscinosis Ceroideas Neuronales
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| Descriptor Portuguese: | Lipofuscinoses Ceroides Neuronais | ||||||
| Descriptor French: | Céroïdes-lipofuscinoses neuronales | ||||||
| Entry term(s): |
Adult Neuronal Ceroid Lipofuscinosis Amaurotic Idiocy, Adult Type Batten Disease Batten Disease, Juvenile Batten Diseases, Juvenile Batten Mayou Disease Batten Spielmeyer Vogt Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease CLN3 Related Neuronal Ceroid Lipofuscinosis CLN3-Related Neuronal Ceroid-Lipofuscinoses CLN3-Related Neuronal Ceroid-Lipofuscinosis CLN4A CLN4As CLN4B Cerebroretinal Degeneration, Juvenile Cerebroretinal Degenerations, Juvenile Ceroid Lipofuscinosis, Neuronal 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 Storage Diseases Ceroid-Lipofuscinoses, CLN3-Related Neuronal Ceroid-Lipofuscinosis, CLN3-Related Neuronal Ceroid-Lipofuscinosis, Neuronal Disease, Ceroid Storage Disease, Juvenile Batten Disease, Kuf's Disease, Lipofuscin Storage Disease, Spielmeyer-Sjogren Disease, Vogt Spielmeyer Disease, Vogt-Spielmeyer Diseases, Ceroid Storage Diseases, Juvenile Batten Diseases, Lipofuscin Storage Infantile Neuronal Ceroid Lipofuscinosis Jansky Bielschowsky Disease Jansky-Bielschowsky Disease Juvenile Batten Disease Juvenile Batten Diseases Juvenile Cerebroretinal Degeneration Juvenile Cerebroretinal Degenerations Juvenile Neuronal Ceroid Lipofuscinosis Kuf Disease 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 Lipofuscin Storage Diseases Lipofuscinosis, Neuronal Ceroid Neuronal Ceroid Lipofuscinoses 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-Lipofuscinoses, CLN3-Related Neuronal Ceroid-Lipofuscinosis Neuronal Ceroid-Lipofuscinosis, CLN3-Related Santavuori Haltia Disease Santavuori-Haltia Disease Spielmeyer Disease, Vogt Spielmeyer Sjogren Disease Spielmeyer Vogt Disease Spielmeyer-Sjogren Disease Spielmeyer-Vogt Disease Storage Disease, Ceroid Storage Disease, Lipofuscin Storage Diseases, Ceroid Storage Diseases, Lipofuscin Vogt Spielmeyer Disease Vogt-Spielmeyer Disease |
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| Tree number(s): |
C10.574.500.550 C16.320.400.600 C16.320.565.398.641.509 C18.452.584.563.641.509 C18.452.648.398.641.509 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D009472 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Ceroid (1975-1982) Lipofuscin (1975-1982) Lipoidosis (1966-1982) Pigments (1966-1982) |
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| Public MeSH Note: | 2007; see NEURONAL CEROID-LIPOFUSCINOSIS 1983-2006 |
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| History Note: | 2007 (1983) |
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| DeCS ID: | 9664 | ||||||
| Unique ID: | D009472 | ||||||
| NLM Classification: | WD 205.5.L5 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1983/01/01 | ||||||
| Date of Entry: | 1982/04/28 | ||||||
| Revision Date: | 2018/06/29 |
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Neuronal Ceroid-Lipofuscinoses
- Preferred
Infantile Neuronal Ceroid Lipofuscinosis
- Narrower
Juvenile Neuronal Ceroid Lipofuscinosis
- Narrower
Adult Neuronal Ceroid Lipofuscinosis
- Narrower
Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant
- Narrower
Late-Infantile Neuronal Ceroid Lipofuscinosis
- Narrower
Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive
- Narrower
| Concept UI |
M0014734 |
| Scope note | 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. |
| Preferred term | Neuronal Ceroid-Lipofuscinoses |
| Entry term(s) |
Ceroid Lipofuscinosis, Neuronal Ceroid Storage Disease Ceroid Storage Diseases Ceroid-Lipofuscinosis, Neuronal Disease, Ceroid Storage Disease, Lipofuscin Storage Diseases, Ceroid Storage Diseases, Lipofuscin Storage Lipofuscin Storage Disease Lipofuscin Storage Diseases Lipofuscinosis, Neuronal Ceroid Neuronal Ceroid Lipofuscinoses Neuronal Ceroid Lipofuscinosis Neuronal Ceroid-Lipofuscinosis Storage Disease, Ceroid Storage Disease, Lipofuscin Storage Diseases, Ceroid Storage Diseases, Lipofuscin |
| Concept UI |
M0337073 |
| Scope note | This type is caused by mutation in the gene (CLN1or PPT1) encoding palmitoyl-protein thioesterase (THIOLESTER HYDROLASES), an enzyme involved in catabolism of lipid-modified proteins. |
| Preferred term | Infantile Neuronal Ceroid Lipofuscinosis |
| Entry term(s) |
Neuronal Ceroid Lipofuscinosis, Infantile Santavuori Haltia Disease Santavuori-Haltia Disease |
| Concept UI |
M0014731 |
| Scope note | This type is caused by mutation in the CLN3 gene encoding a lysosomal integral membrane protein (Battenin). |
| Preferred term | Juvenile Neuronal Ceroid Lipofuscinosis |
| Entry term(s) |
Batten Disease Batten Disease, Juvenile Batten Diseases, Juvenile Batten Mayou Disease Batten Spielmeyer Vogt Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease CLN3 Related Neuronal Ceroid Lipofuscinosis CLN3-Related Neuronal Ceroid-Lipofuscinoses CLN3-Related Neuronal Ceroid-Lipofuscinosis Cerebroretinal Degeneration, Juvenile Cerebroretinal Degenerations, Juvenile Ceroid Lipofuscinosis, Neuronal 3, Juvenile Ceroid Lipofuscinosis, Neuronal, 3 Ceroid-Lipofuscinoses, CLN3-Related Neuronal Ceroid-Lipofuscinosis, CLN3-Related Neuronal Disease, Juvenile Batten Disease, Spielmeyer-Sjogren Disease, Vogt Spielmeyer Disease, Vogt-Spielmeyer Diseases, Juvenile Batten Juvenile Batten Disease Juvenile Batten Diseases Juvenile Cerebroretinal Degeneration Juvenile Cerebroretinal Degenerations Neuronal Ceroid Lipofuscinosis Juvenile Type Neuronal Ceroid Lipofuscinosis, Juvenile Neuronal Ceroid-Lipofuscinoses, CLN3-Related Neuronal Ceroid-Lipofuscinosis, CLN3-Related Spielmeyer Disease, Vogt Spielmeyer Sjogren Disease Spielmeyer Vogt Disease Spielmeyer-Sjogren Disease Spielmeyer-Vogt Disease Vogt Spielmeyer Disease Vogt-Spielmeyer Disease |
| Concept UI |
M0014733 |
| Preferred term | Adult Neuronal Ceroid Lipofuscinosis |
| Entry term(s) |
Amaurotic Idiocy, Adult Type Ceroid Lipofuscinosis, Neuronal 4 Disease, Kuf's Kuf Disease Kuf's Disease Kufs Disease Kufs Type Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Adult Neuronal Ceroid Lipofuscinosis, Adult Type |
| Concept UI |
M0563818 |
| Preferred term | Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant |
| Entry term(s) |
CLN4B Ceroid Lipofuscinosis, Neuronal, Parry Type Kufs Disease, Autosomal Dominant |
| Concept UI |
M0014732 |
| Scope note | This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease. |
| Preferred term | Late-Infantile Neuronal Ceroid Lipofuscinosis |
| Entry term(s) |
Jansky Bielschowsky Disease Jansky-Bielschowsky Disease Neuronal Ceroid Lipofuscinosis, Late Infantile Neuronal Ceroid Lipofuscinosis, Late-Infantile |
| Concept UI |
M000748665 |
| Preferred term | Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive |
| Entry term(s) |
CLN4A CLN4As Kufs Disease Autosomal Recessive Kufs Disease, Autosomal Recessive |
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