CLN7 disease
Synonyms: NCL7 · Neuronal ceroid lipofuscinosis type 7
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy
- Status
- active
A rare neuronal ceroid lipofuscinosis characterized by epilepsy with myoclonic, atonic, and bilateral tonic-clonic seizures, gait disturbance, and language difficulty/delay. Progressive motor and cognitive decline, personality disorders, myoclonus and visual loss are common clinical features become evident later in the disease progress. Age of onset is typically late-infantile, however few juvenile-onset patients are reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLN7 disease | NCL7 · Neuronal ceroid lipofuscinosis type 7 |
| fr | Maladie CLN7 | Céroïde lipofuscinose neuronale de type 7 · NCL7 |
| de | CLN7-Krankheit | Ceroid-Lipofuszinose, neuronale, Typ 7 · NCL7 · Türkische Variante der spätinfantilen NCL · vLINCL |
| es | Enfermedad CLN7 | Lipofuscinosis ceroidea neuronal tipo 7 · NCL7 |
| it | Malattia CLN7 | Variante turca tardiva infantile · Ceroidolipofuscinosi infantile tardiva, variante turca · Ceroidolipofuscinosi neuronale tipo 7 · vLINCL |
| nl | CLN7-ziekte | NCL7 · Neuronale ceroïdlipofuscinose type 7 |
| pt | Doença CLN7 | Lipofuscinose ceroide neuronal tipo 7 · NCL7 |
| pl | Choroba CLN7 | Choroba CLN7 |
| cs | Neuronální ceroidlipofuscinosa, typ 7 | Onemocnění CLN7 |
| uk | Хвороба CLN7 | Нейрональний цероїдний ліпофусциноз типу 7 · Турецький варіант пізнього інфантилізму · vLINCL |
| zh | 神经元蜡样脂褐质沉积症7型 | |
| tr | CLN7 hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610951 | E | validated | |
| ICD-10 | E75.4 | NTBT | attributed | validated |
| ICD-11 | 5C56.1 | NTBT | attributed | validated |
| MONDO | 12588 | E | validated | |
| UMLS | C1838571 | 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 |
|---|---|---|---|---|---|---|---|---|
| MFSD8 | Disease-causing germline mutation(s) in | Assessed | HGNC:28486 | ENSG00000164073 | 611124 | 4q28.2 | major facilitator superfamily domain containing 8 | 34733232[PMID]_27238410[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 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/228366
- This record as JSON: /data/d/228366.json