CLN11 disease
Synonyms: NCL11 · Neuronal ceroid lipofuscinosis type 11
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Infancy
- Status
- active
A rare neuronal ceroid lipofuscinosis characterized by adulthood-onset (13-25 years-few exceptions of earlier onset were reported) retinal dystrophy (notably retinitis pigmentosa), and cerebellar ataxia with progressive cerebellar atrophy. Generalised tonic-clonic epilepsy, myoclonus, dystonia and cognitive decline are frequently observed whereas visual hallucinations, pyramidal syndrome and parkinsonism may be present in some patients. Disease progression may be slower compared to other ceroid lipofuscinosis diseases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLN11 disease | NCL11 · Neuronal ceroid lipofuscinosis type 11 |
| fr | Maladie CLN11 | Céroïde lipofuscinose neuronale de type 11 · NCL11 |
| de | CLN11-Krankheit | Ceroid-Lipofuszinose, neuronale, Typ 11 · NCL11 |
| es | Enfermedad CLN11 | Lipofuscinosis ceroidea neuronal tipo 11 · NCL11 |
| it | Malattia CLN11 | Ceroidolipofuscinosi neuronale tipo 11 |
| nl | CLN11-ziekte | NCL11 · Neuronale ceroïdlipofuscinose type 11 |
| pt | Doença CLN11 | Lipofuscinose ceroide neuronal tipo 11 · NCL11 |
| pl | Choroba CLN11 | = en |
| cs | Onemocnění CLN11 | = en |
| uk | Хвороба CLN11 | Нейрональний цероїдний ліпофусциноз типу 11 |
| zh | CLN11病 | |
| tr | CLN11 hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614706 | E | validated | |
| ICD-10 | E75.4 | NTBT | attributed | validated |
| ICD-11 | 5C56.1 | NTBT | attributed | validated |
| MONDO | 13866 | E | validated | |
| UMLS | C3539123 | 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 |
|---|---|---|---|---|---|---|---|---|
| GRN | Disease-causing germline mutation(s) in | Assessed | HGNC:4601 | ENSG00000030582 | 138945 | 17q21.31 | granulin precursor | 32412666[PMID]_34733232[PMID]_34684815[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 39394881[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 39394881[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/314629
- This record as JSON: /data/d/314629.json