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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
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07954 | Fumarate hydratase, mitochondrial | |
| Q99798 | Aconitate hydratase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002007 | Frontal bossing |
| HP:0002059 | Cerebral atrophy |
| HP:0002119 | Ventriculomegaly |
| HP:0002126 | Polymicrogyria |
| HP:0002133 | Status epilepticus |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002187 | Intellectual disability, profound |
| HP:0002190 | Choroid plexus cyst |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0002904 | Hyperbilirubinemia |
