combined D-2- and L-2-hydroxyglutaric aciduria
Information
- Disease name
- combined D-2- and L-2-hydroxyglutaric aciduria
- Disease ID
- DOID:0111619
- Description
- "A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21." [url:https\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria, url:https\://www.ncbi.nlm.nih.gov/pubmed/10963100, url:https\://www.ncbi.nlm.nih.gov/pubmed/23561848]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050573
- Cross Reference ID (Disease Ontology)
- MIM:615182
- Cross Reference ID (Disease Ontology)
- ORDO:356978
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:713401006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C5574940
- Exact Synonym (Disease Ontology)
- combined D,L-2-hydroxyglutaric aciduria
- Exact Synonym (Disease Ontology)
- combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
- Exact Synonym (Disease Ontology)
- combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
- Exact Synonym (Disease Ontology)
- D,L-2-HGA
- Exact Synonym (Disease Ontology)
- D,L-2-hydroxyglutaric acidemia
- Exact Synonym (Disease Ontology)
- D,L-2-hydroxyglutaric aciduria