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MIRAGE
fumarase deficiency
Summary
- Synonym
-
- FMRD
- fumaric aciduria
- Definition
- An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43.
- Super Class
- amino acid metabolic disorder autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111261
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07954 | Fumarate hydratase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003128 | Lactic acidosis |
| HP:0003355 | Aminoaciduria |
| HP:0003536 | Decreased fumarate hydratase activity |
| HP:0003758 | Reduced subcutaneous adipose tissue |
| HP:0004482 | Relative macrocephaly |
| HP:0005280 | Depressed nasal bridge |
| HP:0007620 | Cutaneous leiomyoma |
| HP:0011129 | Bilateral fetal pyelectasis |
| HP:0011682 | Perimembranous ventricular septal defect |
| HP:0100954 | Open operculum |
