Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Synonyms: Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Focal epilepsy-intellectual disability-cerebro-cerebellar malformation | Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome |
| fr | Syndrome d'épilepsie focale-déficience intellectuelle-malformation cérebro-cérébelleuse | Syndrome d'épilepsie focale-déficience intellectuelle-dysarthrie-ataxie |
| de | Fokale Epilepsie-Intelligenzminderung-zerebro-zerebelläre Fehlbildung | Fokale Epilepsie-Intelligenzminderung-Dysarthrie-Ataxie-Syndrom |
| es | Epilepsia focal-discapacidad intelectual-malformación cerebro-cerebelosa | Síndrome de epilepsia focal-discapacidad intelectual-disartria-ataxia |
| it | Epilessia focale-disabilità intellettiva-malformazione cerebro-cerebellare | Sindrome epilessia focale-disabilità intellettiva-disartria-atassia |
| nl | Focale epilepsie - intellectuele achterstand - cerebrocerebellaire malformatie | Focale epilepsie - intellectuele achterstand - dysartrie - ataxie-syndroom |
| pt | Epilepsia focal-perturbação do desenvolvimento intelectual-malformação cérebro-cerebelosa | Síndrome de epilepsia focal-perturbação do desenvolvimento intelectual-disartria-ataxia |
| pl | Padaczka ogniskowa - niepełnosprawność intelektualna - malformacje mózgowo-móżdżkowe | Padaczka ogniskowa - niepełnosprawność intelektualna - dyzartria - ataksja |
| cs | Fokální epilepsie, mentální retardace a cerebro-celebelární malformace | Syndrom zahrnující fokální epilepsii, mentální retardaci a dysartrii |
| uk | Фокальна епілепсія - інтелектуальна недостатність - церебро-мозочкова мальформація | Синдром фокальної епілепсії-інтелектуальної недостатності-дизартрії-атаксії |
| zh | 局灶性癫痫-智力障碍-脑小脑畸形 | 局灶性癫痫-智力障碍-构音障碍-共济失调综合征 |
| tr | Fokal epilepsi-zihinsel yetersizlik-serebro-serebellar malformasyon | Fokal epilepsi-zihinsel yetersizlik-dizartri-ataksi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605021 | NTBT | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0018125 | E | validated | |
| UMLS | C4707306 | 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 (4):
- ORPHA:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - 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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBC1D24 | Disease-causing germline mutation(s) in | Assessed | HGNC:29203 | ENSG00000162065 | 613577 | 16p13.3 | TBC1 domain family member 24 | 23517570[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 23517570[PMID] | |
| 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/352587
- This record as JSON: /data/d/352587.json