CLN8 disease
Synonyms: NCL8 · Neuronal ceroid lipofuscinosis type 8
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare neuronal ceroid lipofuscinosis characterized classically by late infantile-onset (5-10 years) with rapid disease progression, myoclonus, visual loss and progressive intellectual disability (commonly observed within 2-5 years of seizure onset). Spasticity, dystonic posturing, tremors, and other extrapyramidal signs are also reported in these patients. Less frequently, the disease can manifest with intractable tonic-clonic or complex partial seizures without myoclonous, progressive intellectual disability and variable visual deficit, blindness being infrequent. This condition, also known as Northern epilepsy, is milder and slow progressing compared to the classical form of the disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLN8 disease | NCL8 · Neuronal ceroid lipofuscinosis type 8 |
| fr | Maladie CLN8 | Céroïde lipofuscinose neuronale de type 8 · NCL8 |
| de | CLN8-Krankheit | Ceroid-Lipofuszinose, neuronale, Typ 8 · NCL8 |
| es | Enfermedad CLN8 | Lipofuscinosis ceroidea neuronal tipo 8 · NCL8 |
| it | Malattia CLN8 | Ceroidolipofuscinosi neuronale tipo 8 |
| nl | CLN8-ziekte | NCL8 · Neuronale ceroïdlipofuscinose type 8 |
| pt | Doença CLN8 | Lipofuscinose ceroide neuronal tipo 8 · NCL8 |
| pl | Choroba CLN8 | = en |
| cs | Neuronální ceroidlipofuscinosa, typ 8 | Onemocnění CLN8 |
| uk | Хвороба CLN8 | Нейрональний цероїдний ліпофусциноз типу 8 |
| zh | 神经元蜡样脂褐质沉积症8型 | |
| tr | CLN8 hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600143 | E | validated | |
| ICD-10 | E75.4 | NTBT | attributed | validated |
| ICD-11 | 5C56.1 | NTBT | attributed | validated |
| MONDO | 10830 | E | validated | |
| UMLS | C1838570 | 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
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CLN8 | ORPHA:1947Northern epilepsy | Disease-causing germline mutation(s) in | Assessed | HGNC:2079 | ENSG00000182372 | 607837 | 8p23.3 | CLN8 transmembrane ER and ERGIC protein | 21990111[PMID] |
| CLN8 | ORPHA:700484Late infantile CLN8 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:2079 | ENSG00000182372 | 607837 | 8p23.3 | CLN8 transmembrane ER and ERGIC protein | 32412666[PMID]_34733232[PMID]_34684815[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 15074367[PMID]_16570191[PMID]_22220808[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 15074367[PMID]_16570191[PMID]_22220808[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/228354
- This record as JSON: /data/d/228354.json