3-Methylcrotonyl-Coa Carboxylase Deficiency
Disease ID: disease_node_18811
Connections displayed (default: 10).
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| Dbxref | GARD:10954, MIM:PS210200, ORDO:6 |
|---|---|
| Subclassof | DOID_0080000, DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | 3-Methylcrotonylglycinuria, 3MCC deficiency, BMCC deficiency |
| Doid Label | 3-methylcrotonyl-CoA carboxylase deficiency |
| Doid Description | An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. |
| Has Phenotype | HP_0001252, HP_0003202 |
| Has Symptom | SYMP_0000570, SYMP_0000075, SYMP_0000355, SYMP_0019145 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18811 |
| Doid Id | DOID_0050710 |
| Label | 3-Methylcrotonyl-Coa Carboxylase Deficiency |
- Outgoing r'ship
HAS_SYMPTOMto/from Dysentery(ID:disease_node_2637;disease_node_2638) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Poor Feeding(ID:disease_node_21454) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Vomiting(ID:disease_node_7914;disease_node_20962) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Lethargy(ID:disease_node_11750;disease_node_21616) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscular Disease(ID:disease_node_13734) (Disease) - 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)