2-hydroxyglutaric aciduria
Synonyms: 2-hydroxyglutaric acidemia
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2-hydroxyglutaric aciduria | 2-hydroxyglutaric acidemia |
| fr | Acidurie 2-hydroxyglutarique | Acidémie 2-hydroxyglutarique |
| de | 2-Hydroxy-Glutarazidurie | 2-Hydroxyglutarazidämie |
| es | Aciduria 2-hidroxiglutárica | Acidemia 2-hidroxiglutárica |
| it | Aciduria 2-idrossiglutarica | Acidemia 2-idrossiglutarica |
| nl | 2-hydroxyglutaaracidurie | 2-hydroxyglutaaracidemie |
| pt | Acidúria 2-hidroxiglutárica | |
| pl | Acyduria 2-hydroksyglutarowa | Kwasica 2-hydroksyglutarowa |
| cs | Acidurie D-2-hydroxyglutarová | 2-hydroxyglutarová acidemie |
| uk | 2-гідроксиглутарова ацидурія | 2-гідроксиглутарова ацидемія |
| zh | 2-羟基谷氨酸尿症 | 2-羟谷氨酸血症 |
| tr | 2-hidroksiglutarik asidüri | 2-hidroksiglutarik asidemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016001 | E | validated | |
| MONDO | 16001 | E | validated | |
| MeSH | C535306 | E | validated | |
| UMLS | C2746066 | E | validated | |
| GARD | 10761 | E | validated | |
| MedDRA | 10078971 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:225689Amino acid or protein metabolism disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:79158Cerebral organic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/19
- This record as JSON: /data/d/19.json