Pyruvate Carboxylase Deficiency Disease
Disease ID: disease_node_8183
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E74.4, MESH:D015324, MIM:266150, NCI:C85040, SNOMEDCT_US_2023_03_01:87694001, UMLS_CUI:C0034341 |
|---|---|
| Subclassof | DOID_2978 |
| Data Source | DOID, MESH |
| Synonyms | deficiency of pyruvic carboxylase |
| Mesh Id | D015324 |
| Mesh Label | Pyruvate Carboxylase Deficiency Disease |
| Mesh Subclassof | D028361, D015323, D020739 |
| Doid Label | pyruvate carboxylase deficiency disease |
| Doid Description | A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000124, SYMP_0000465 |
| Disease Node Id | disease_node_8183 |
| Doid Id | DOID_3651 |
| Label | Pyruvate Carboxylase Deficiency Disease |
- Outgoing r'ship
HAS_SYMPTOMto/from Seizure(ID:disease_node_21382) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Failure To Thrive(ID:disease_node_3160;disease_node_21461) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Carbohydrate Metabolism, Inborn Errors(ID:disease_node_1800) (Disease)