ORPHA:364063
Infantile epileptic-dyskinetic encephalopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile epileptic-dyskinetic encephalopathy | |
| fr | Encéphalopathie épileptique-dyskinétique infantile | |
| de | Enzephalopathie, epileptisch-dyskinetische infantile | |
| es | Encefalopatía epiléptica-discinética infantil | |
| it | Encefalopatia epilettica-discinetica infantile | |
| nl | Infantiele epileptische-dyskinetische encefalopathie | |
| pt | Epilepsia-discinésia-encefalopatia da infância | |
| pl | Dziecięca encefalopatia epileptyczno-dyskinetyczna | |
| cs | Kojenecká epilepticko-dyskinetická encefalopatie | |
| uk | Епілептично-дискінетична енцефалопатія раннього дитячого віку | |
| zh | 小儿癫痫性运动障碍性脑病 | |
| tr | İnfantil epileptik-diskinetik ensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308350 | NTBT | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| MONDO | 0018226 | E | validated | |
| MeSH | C567924 | E | validated | |
| UMLS | C4552072 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:182079ARX-related epileptic encephalopathy
rare genetic diseases; rare neurological diseases - ORPHA:391711Persistent combined dystonia
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARX | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18060 | ENSG00000004848 | 300382 | Xp21.3 | aristaless related homeobox | 17664401[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/364063
- This record as JSON: /data/d/364063.json