CLN4 disease
Synonyms: NCL4 · Neuronal ceroid lipofuscinosis type 4
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
A rare neuronal ceroid lipofuscinosis characterized by adult-onset (20-early 30 years) progressive generalized tonic-clonic and myoclonic seizures, speech deterioration, dementia and ataxia. Some patients may also exhibit Parkinsonism. Visual impairment is usually not present. This is the only ceroid lipofuscinosis form inherited dominantly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLN4 disease | NCL4 · Neuronal ceroid lipofuscinosis type 4 |
| fr | Maladie CLN4 | Céroïde lipofuscinose neuronale de type 4 · NCL4 |
| de | CLN4-Krankheit | Ceroid-Lipofuszinose, neuronale, Typ 4 · NCL4 |
| es | Enfermedad CLN4 | Lipofuscinosis ceroidea neuronal tipo 4 · NCL4 |
| it | Malattia CLN4 | Malattia CLN4B · Ceroidolipofuscinosi neuronale tipo 4 · Malattia CLN4 · Malattia di Parry |
| nl | CLN4-ziekte | NCL4 · Neuronale ceroïdlipofuscinose type 4 |
| pt | Doença CLN4 | Lipofuscinose ceroide neuronal tipo 4 |
| pl | Choroba CLN4 | = en |
| cs | Neuronální ceroidlipofuscinosa, typ 4B | Onemocnění CLN4 |
| uk | Хвороба CLN4 | Хвороба CLN4B · Нейрональний цероїдний ліпофусциноз типу 4 · Хвороба Паррі |
| zh | 神经元蜡样脂褐质沉积症4B型 | |
| tr | CLN4B hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 162350 | E | validated | |
| ICD-10 | E75.4 | NTBT | attributed | validated |
| ICD-11 | 5C56.1 | NTBT | attributed | validated |
| MONDO | 8083 | E | validated | |
| UMLS | C1834207 | 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 (2):
- ORPHA:216Neuronal ceroid lipofuscinosis
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNAJC5 | Disease-causing germline mutation(s) in | Assessed | HGNC:16235 | ENSG00000101152 | 611203 | 20q13.33 | DnaJ heat shock protein family (Hsp40) member C5 | 27629553[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 11489285[PMID]_12112194[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 11489285[PMID]_12112194[PMID]_ORPHANET |
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/228343
- This record as JSON: /data/d/228343.json