ORPHA:1947
Northern epilepsy
Synonyms: CLN8 disease, Northern epilepsy variant · NCL, Northern epilepsy variant · Neuronal ceroid lipofuscinosis, Northern epilepsy variant · Progressive epilepsy-intellectual disability syndrome, Finnish type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
This disease is described under CLN8 disease
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Northern epilepsy | CLN8 disease, Northern epilepsy variant · NCL, Northern epilepsy variant · Neuronal ceroid lipofuscinosis, Northern epilepsy variant · Progressive epilepsy-intellectual disability syndrome, Finnish type |
| fr | Epilepsie nordique | CLN, variante épilepsie nordique · Céroïde-lipofuscinose neuronale, variante épilepsie nordique · Maladie CLN8, variante épilepsie nordique · NCL, variante épilepsie nordique · Syndrome d'épilepsie-déficience intellectuelle type finnois |
| de | Nordische Epilepsie | CLN8-assoziierte nordische NCL-Variante · Ceroid-Lipofuszinose, neuronale, nordische Epilepsie-Variante · Nordische Epilepsie, CLN8-assoziierte · Progressive Epilepsie-Intelligenzminderung-Syndrom, Finnischer Typ |
| es | Epilepsia del norte | Ceroidolipofuscinosis neuronal, variante epiléptica del norte · Enfermedad CLN8, variante epiléptica del norte · NCL, variante epiléptica del norte · Síndrome de epilepsia progresiva-discapacidad intelectual tipo finlandés |
| it | Epilessia nordica | Ceroidolipofuscinosi neuronale, variante epilessia nordica · Malattia CLN8, variante epilessia nordica · NCL, variante epilessia nordica |
| nl | Noordse epilepsie | CLN8-ziekte, Noordse epilepsie-variant · NCL, Noordse epilepsie-variant · Neuronale ceroïdlipofuscinose, Noordse epilepsie-variant · Progressieve epilepsie - intellectuele achterstand-syndroom, Fins type |
| pt | Epilepsia do Norte | Doença CLN8, variante da epilepsia do Norte · Lipofuscinose ceroide neuronal, variante da epilepsia do Norte · NCL, variante da epilepsia do Norte · Síndrome de epilepsia progressiva-perturbação do desenvolvimento intelectual, tipo finlandês |
| pl | Postępująca padaczka - niepełnosprawność intelektualna, typ fiński | Ceroidolipofuscynoza neuronalna, wariant padaczki północnej · Choroba CLN8, północny wariant padaczki · NCL, północny wariant padaczki · Padaczka północna |
| cs | Syndrom zahrnující progresivní epilepsii a mentální retardaci, finský typ | CLN8, varianta severské epilepsie · NCL, varianta severské epilepsie · Neuronální ceroidní lipofuscinóza, varianta severské epilepsie · Severská epilepsie |
| uk | Синдром прогресуючої епілепсії-інтелектуальної недостатності, фінський тип | Хвороба CLN8, північний епілептичний варіант · NCL, північний епілептичний варіант · Нейрональний цероїдний ліпофусциноз, північний епілептичний варіант · Північна епілепсія |
| zh | 渐进性癫痫-智障综合征，芬兰型 | 北方癫痫变异型神经元蜡样质脂褐质沉积症8型 |
| tr | İlerleyici epilepsi-zihinsel yetersizlik sendromu, Fin tipi | Northern epilepsi · NCL, Northern epilepsi varyantı · CLN8 hastalığı, Northern epilepsi varyantı · Nöronal seroid lipofusinozis, Northern epilepsi varyantı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610003 | E | validated | |
| ICD-11 | 5C56.1 | NTBT | index | validated |
| MONDO | 0012391 | E | validated | |
| UMLS | C1864923 | E | validated | |
| GARD | 4010 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:228354CLN8 disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLN8 | Disease-causing germline mutation(s) in | Assessed | HGNC:2079 | ENSG00000182372 | 607837 | 8p23.3 | CLN8 transmembrane ER and ERGIC protein | 21990111[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
6
HPO phenotypes
40 annotations · validated 2021-05-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0003657 | Granular osmiophilic deposits (GROD) in cells | |
| HP:0002540 | Inability to walk | |
| HP:0001249 | Intellectual disability | |
| HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material | |
| HP:0001250 | Seizure | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0030455 | Abnormality of pattern visual evoked potentials | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001251 | Ataxia | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002312 | Clumsiness | |
| HP:0100543 | Cognitive impairment | |
| HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | |
| HP:0000750 | Delayed speech and language development | |
| HP:0003698 | Difficulty standing | |
| HP:0011203 | EEG with abnormally slow frequencies | |
| HP:0011198 | EEG with generalized epileptiform discharges | |
| HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | |
| HP:0002066 | Gait ataxia | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002371 | Loss of speech | |
| HP:0002333 | Motor deterioration | |
| HP:0033044 | Motor regression | |
| HP:0000543 | Optic disc pallor | |
| HP:0000529 | Progressive visual loss | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0005268 | Spontaneous abortion | |
| HP:0000550 | Undetectable electroretinogram | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0000726 | Dementia | |
| HP:0002015 | Dysphagia | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0002359 | Frequent falls | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0012690 | T2 hypointense thalamus | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 31982899[PMID]_30741402[PMID]_30470609[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1947
- This record as JSON: /data/d/1947.json