Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency
Disease ID: disease_node_20522
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E71.1, MIM:614923, ORDO:308410 |
|---|---|
| Subclassof | DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | BCKDK deficiency, BCKDKD, autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency |
| Doid Label | branched-chain keto acid dehydrogenase kinase deficiency |
| Doid Description | An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20522 |
| Doid Id | DOID_0090126 |
| Label | Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)