CLN6 disease
Synonyms: NCL6 · Neuronal ceroid lipofuscinosis type 6
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare neuronal ceroid lipofuscinosis characterized by developmental and motor regression, seizures, ataxia, intellectual disability, delayed global development, speech and language, spasticity, and hypotonia. Visual impairment is not always present. It may present with late infantile (5-7 years), juvenile (4-8 years) or adult-onset (30 years). Progressive myoclonus epilepsy, with myoclonic and tonic-clonic seizures, limb weakness, dysarthria are mainly associated with the adult-onset form of the disease and these patients commonly have photosensitivity (sometimes extreme) whereas vision loss is infrequent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLN6 disease | NCL6 · Neuronal ceroid lipofuscinosis type 6 |
| fr | Maladie CLN6 | Céroïde lipofuscinose neuronale de type 6 · NCL6 |
| de | CLN6-Krankheit | Ceroid-Lipofuszinose, neuronale, Typ 6 · NCL6 |
| es | Enfermedad CLN6 | Lipofuscinosis ceroidea neuronal tipo 6 · NCL6 |
| it | Malattia CLN6 | Ceroidolipofuscinosi neuronale tipo 6 · vLINCL |
| nl | CLN6-ziekte | NCL6 · Neuronale ceroïdlipofuscinose type 6 |
| pt | Doença CLN6 | |
| pl | Choroba CLN6 | Choroba CLN6 |
| cs | Neuronální ceroidlipofuscinosa, typ 6 | Onemocnění CLN6 |
| uk | Хвороба CLN6 | Нейрональний цероїдний ліпофусциноз типу 6 · vLINCL |
| zh | 神经元蜡样脂褐质沉积症6型 | |
| tr | CLN6 hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 204300 | BTNT | validated | |
| OMIM | 601780 | BTNT | validated | |
| ICD-10 | E75.4 | NTBT | attributed | validated |
| ICD-11 | 5C56.1 | NTBT | attributed | validated |
| UMLS | C5680906 | 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
Codes that Orphanet moved or referred to this one:
- ORPHA:228340OBSOLETE: CLN4A disease referred to · inactive
Genes
0 direct · 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| CLN6 | ORPHA:700467Late infantile CLN6 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:2077 | ENSG00000128973 | 606725 | 15q23 | CLN6 transmembrane ER protein | 32412666[PMID]_34733232[PMID]_34684815[PMID] |
| CLN6 | ORPHA:700472Juvenile CLN6 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:2077 | ENSG00000128973 | 606725 | 15q23 | CLN6 transmembrane ER protein | 32412666[PMID]_34733232[PMID]_34684815[PMID] |
| CLN6 | ORPHA:700477Adult CLN6 disease | Disease-causing germline mutation(s) in | Assessed | HGNC:2077 | ENSG00000128973 | 606725 | 15q23 | CLN6 transmembrane ER protein | 32412666[PMID]_34733232[PMID]_34684815[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 125 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/228363
- This record as JSON: /data/d/228363.json