Epileptic encephalopathy with global cerebral demyelination
Synonyms: AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epileptic encephalopathy with global cerebral demyelination | AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency |
| fr | Encéphalopathie épileptique avec démyélinisation cérébrale généralisée | Déficit en transporteur mitochondrial AGC1 · Déficit en transporteur mitochondrial aspartate-glutamate 1 |
| de | Epileptische Enzephalopathie mit globaler zerebraler Demyelinisierung | AGC1-Mangel · Mitochondrialer Aspartat-Glutamat-Carrier 1-Mangel |
| es | Encefalopatía epiléptica con desmielinización cerebral global | Deficiencia del transportador mitocondrial de aspartato-glutamato 1 · Deficiencia en AGC1 |
| it | Encefalopatia epilettica con demielinizzazione cerebrale generalizzata | Deficit del trasportatore mitocondriale di aspartato-glutammato 1 |
| nl | Epileptische encefalopathie met gegeneraliseerde cerebrale demyelinisatie | AGC1-deficiëntie · Mitochondriale aspartaat-glutamaattransporter 1-deficiëntie |
| pt | Défice do transportador 1 do aspartato glutamato mitocondrial | |
| pl | Encefalopatia padaczkowa z całkowitą demielinizacją mózgu | Niedobór mitochondialnego nośnika 1 asparaginianu-glutaminianu |
| cs | Epileptická encefalopatie s globální demyelinizací | Deficit mitochondriálního přenašeče 1 pro aspartát-glutamát |
| uk | Епілептична енцефалопатія з глобальною церебральною демієлінізацією | Дефіцит AGC1 · Дефіцит мітохондріального аспартат-глутаматного переносника 1 |
| zh | 癫痫性脑病伴全脑皮质髓鞘形成减少 | 线粒体天冬氨酸-谷氨酸载体1缺乏症 |
| tr | Yaygın serebral demiyelinizasyon ile seyreden epileptik ensefalopati | AGC1 eksikliği · Mitokondriyal aspartat-glutamat taşıyıcı 1 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612949 | E | validated | |
| ICD-10 | E72.0 | NTBT | attributed | validated |
| ICD-11 | 5C53.30 | NTBT | index | validated |
| MONDO | 0013056 | E | validated | |
| UMLS | C4512050 | 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 (3):
- ORPHA:225700Mitochondrial disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:254830Mitochondrial substrate carrier disorder
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC25A12 | Disease-causing germline mutation(s) in | Assessed | HGNC:10982 | ENSG00000115840 | 603667 | 2q31.1 | solute carrier family 25 member 12 | 19641205[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 19641205[PMID]_24515575[PMID]_31403263[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 19641205[PMID]_24515575[PMID]_31403263[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/353217
- This record as JSON: /data/d/353217.json