CLN13 disease
Synonyms: Kufs disease type B · NCL13 · Neuronal ceroid lipofuscinosis type 13
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare neuronal ceroid lipofuscinosis characterized by adulthood-onset (11-65 years with the mean of 34 years) epilepsy, cognitive impairment, dementia with behavioral, neuropsychiatric, and movement disturbances. Facial dyskinesia and myoclonus epilepsy are commonly observed. Unspecified motor speech problems and akinetic mutism are also reported in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLN13 disease | Kufs disease type B · NCL13 · Neuronal ceroid lipofuscinosis type 13 |
| fr | Maladie CLN13 | Céroïde lipofuscinose neuronale de type 13 · Maladie de Kufs type B · NCL13 |
| de | CLN13-Krankheit | Ceroid-Lipofuszinose, neuronale, Typ 13 · Kufs-Krankheit Typ B · NCL13 |
| es | Enfermedad CLN13 | Lipofuscinosis ceroidea neuronal tipo 13 · NCL13 · Enfermedad de Kufs tipo B |
| it | Malattia CLN13 | Ceroidolipofuscinosi neuronale tipo 12 · Ceroidolipofuscinosi neuronale tipo 13 · Malattia di Kufs tipo B |
| nl | CLN13-ziekte | NCL13 · Neuronale ceroïdlipofuscinose type 13 · Ziekte van Kufs type B |
| pt | Doença CLN13 | Doença Kufs tipo B · Lipofuscinose ceroide neuronal tipo 13 · NCL13 |
| pl | Choroba CLN13 | Choroba CLN13 |
| cs | Onemocnění CLN13 | = en |
| uk | Хвороба CLN13 | Хвороба Куфса типу В · Нейрональний цероїдний ліпофусциноз типу 13 |
| zh | CLN13病 | |
| tr | CLN13 hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615362 | E | validated | |
| ICD-10 | E75.4 | NTBT | attributed | validated |
| ICD-11 | 5C56.1 | NTBT | attributed | validated |
| MONDO | 0014147 | E | validated | |
| MONDO | 14147 | E | validated | |
| UMLS | C3715049 | 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 |
|---|---|---|---|---|---|---|---|---|
| CTSF | Disease-causing germline mutation(s) in | Assessed | HGNC:2531 | ENSG00000174080 | 603539 | 11q13.2 | cathepsin F | 21990111[PMID]_22778232[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 23297359[PMID]_25274848[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 23297359[PMID]_25274848[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/352709
- This record as JSON: /data/d/352709.json