Neuronal ceroid lipofuscinosis
Synonyms: CLN disease · NCL · NCL disease
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neuronal ceroid lipofuscinosis | CLN disease · NCL · NCL disease |
| fr | Céroïde-lipofuscinose neuronale | CLN · NCL |
| de | Ceroid-Lipofuszinose, neuronale | CLN-Krankheit · NCL |
| es | Lipofuscinosis ceroidea neuronal | Enfermedad CLN · Enfermedad NCL · NCL |
| it | Ceroidolipofuscinosi neuronale | Malattia CLN · Malattia NCL · NCL |
| nl | Neuronale ceroïdlipofuscinose | CLN-ziekte · NCL · NCL-ziekte |
| pt | Lipofuscinose ceróide neuronal | Doença CLN · Doença NCL · NCL |
| pl | Neuronalna lipofuscynoza ceroidowa | NCL · Neuronalna ceroidolipofuscynoza |
| cs | Neuronální ceroid lipofuscinóza | NCL |
| uk | Нейрональний цероїдний ліпофусциноз | Хвороба CLN · NCL · Хвороба NCL |
| zh | 神经元蜡样质脂褐质沉积病 | NCL |
| tr | Nöronal seroid lipofusinoz | NCL |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E75.4 | E | specific | validated |
| ICD-11 | 5C56.1 | E | specific | validated |
| MONDO | 0016295 | E | validated | |
| MONDO | 16295 | E | validated | |
| MeSH | D009472 | E | validated | |
| UMLS | C0027877 | E | validated | |
| GARD | 10739 | E | validated | |
| MedDRA | 10074607 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:68366Lysosomal disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225681Lysosomal disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:98543Metabolic disease with dementia
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
Children (13):
- ORPHA:228329CLN1 disease
- ORPHA:228337CLN10 disease
- ORPHA:314629CLN11 disease
- ORPHA:314632CLN12 disease
- ORPHA:352709CLN13 disease
- ORPHA:699708CLN14 disease
- ORPHA:228349CLN2 disease
- ORPHA:228346CLN3 disease
- ORPHA:228343CLN4 disease
- ORPHA:228360CLN5 disease
- ORPHA:228363CLN6 disease
- ORPHA:228366CLN7 disease
- ORPHA:228354CLN8 disease
Codes that Orphanet moved or referred to this one:
- ORPHA:79262OBSOLETE: Adult neuronal ceroid lipofuscinosis referred to · inactive
- ORPHA:79263OBSOLETE: Infantile neuronal ceroid lipofuscinosis referred to · inactive
- ORPHA:79264OBSOLETE: Juvenile neuronal ceroid lipofuscinosis referred to · inactive
- ORPHA:168486OBSOLETE: Congenital neuronal ceroid lipofuscinosis referred to · inactive
- ORPHA:168491OBSOLETE: Late infantile neuronal ceroid lipofuscinosis referred to · inactive
- ORPHA:228357OBSOLETE: CLN9 disease referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.12 / 100 000 | Italy | Value and class | Validated | 23374165[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.98 / 100 000 | Italy | Value and class | Validated | 23374165[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.56 / 100 000 | Italy | Value and class | Validated | 7668318[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4 / 100 000 | Norway | Value and class | Validated | 17092455[PMID] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/216
- This record as JSON: /data/d/216.json