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MIRAGE
HMG-CoA synthase 2 deficiency
Summary
- Synonym
-
- 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
- Definition
- An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12.
- Super Class
- amino acid metabolic disorder autosomal recessive disease
External Links
- Disease Ontology
- DOID:0081168
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54869 | Hydroxymethylglutaryl-CoA synthase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0001943 | Hypoglycemia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001325 | Hypoglycemic coma |
| HP:0002013 | Vomiting |
| HP:0002014 | Diarrhea |
| HP:0002240 | Hepatomegaly |
| HP:0003593 | Infantile onset |
