ORPHA:308410
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | |
| fr | Syndrome d'autisme-épilepsie par défict en kinase déshydrogénase des cétoacides à chaînes ramifiées | |
| de | Autismus-Epilepsie-Syndrom durch Verzweigtketten-Ketosäuredehydrogenase-Kinase-Mangel | |
| es | Síndrome de autismo-epilepsia por deficiencia de la deshidrogenasa quinasa de cetoácidos de cadena ramificada | |
| it | Sindrome autismo-epilessia, da deficit di chetoacido deidrogenasi chinasi a catena ramificata | |
| nl | Autisme - epilepsie-syndroom door deficiëntie van vertakte keten-ketozuurdehydrogenasekinase | |
| pt | Síndrome autista-epilepsia por deficiência de desidrogenase cinase dos cetoácidos de cadeia ramificada | |
| pl | Zespół autyzm-padaczka z powodu niedoboru kinazy dehydrogenazy rozgałęzionych łańcuchów ketokwasów | |
| cs | Syndrom zahrnující autismus a epilepsii, způsobený deficitem kinázy a dehydrogenázy větvených ketokyselin | |
| uk | Синдром аутизму-епілепсії внаслідок дефіциту кінази кетокислотної дегідрогенази з розгалуженим ланцюгом | |
| zh | 支链酮酸脱氢酶激酶缺乏症所致孤独症-癫痫综合征 | |
| tr | Dallı zincirli ketoasit dehidrojenaz kinaz eksikliğine bağlı otizm-epilepsi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614923 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.DY | NTBT | attributed | validated |
| MONDO | 0013970 | E | validated | |
| UMLS | C4749908 | 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 (3):
- ORPHA:225689Amino acid or protein metabolism disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:79197Disorder of branched-chain amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
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 |
|---|---|---|---|---|---|---|---|---|
| BCKDK | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16902 | ENSG00000103507 | 614901 | 16p11.2 | branched chain keto acid dehydrogenase kinase | 22956686[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 24449431[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 24449431[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/308410
- This record as JSON: /data/d/308410.json