ORPHA:79314
L-2-hydroxyglutaric aciduria
Synonyms: L-2-HGA · L-2-hydroxyglutaric acidemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | L-2-hydroxyglutaric aciduria | L-2-HGA · L-2-hydroxyglutaric acidemia |
| fr | Acidurie L-2-hydroxyglutarique | Acidémie L-2-hydroxyglutarique · L-2-HGA |
| de | L-2-Hydroxy-Glutarazidurie | L-2-HGA · L-2-Hydroxyglutaryl-Azidämie · L-2-OH-Glutarazidurie |
| es | Aciduria L-2-hidroxiglutárica | Acidemia L-2-hidroxiglutárica · L-2-HGA |
| it | Aciduria L-2-idrossiglutarica | Acidemia L-2-idrossiglutarica · L-2-HGA |
| nl | L-2-hydroxyglutaaracidurie | L-2-HGA · L-2-hydroxyglutaaracidemie |
| pt | Acidúria L-2-hidroxiglutárica | |
| pl | L-2-acyduria hydroksyglutarowa | L-2-HGA · L-2-kwasica hydroksyglutarowa |
| cs | L-2-Hydroxyglutarová acidurie | L-2-HGA · L-2-Hydroxyglutarová acidémie |
| uk | L-2-гідроксиглутарова ацидурія | L-2-HGA · L-2-гідроксиглутарова ацидемія |
| zh | L-2-羟基戊二酸尿症 | L-2-羟基戊二酸血症 |
| tr | L-2-hidroksiglutarik asidüri | L-2-HGA · L-2-hidroksiglutarik asidemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236792 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.E1 | NTBT | index | validated |
| MONDO | 0009370 | E | validated | |
| UMLS | C1855995 | E | validated | |
| GARD | 10472 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:192-hydroxyglutaric aciduria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| L2HGDH | Disease-causing germline mutation(s) in | Assessed | HGNC:20499 | ENSG00000087299 | 609584 | 14q21.3 | L-2-hydroxyglutarate dehydrogenase | 20052767[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 140 cases | Worldwide | Case(s) | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002383 | Infectious encephalitis | |
| HP:0006887 | Intellectual disability, progressive | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0000708 | Atypical behavior | |
| HP:0001252 | Hypotonia | |
| HP:0000256 | Macrocephaly | |
| HP:0004375 | Neoplasm of the nervous system | |
| HP:0001285 | Spastic tetraparesis | |
| Occasional (29-5%) | ||
| HP:0002381 | Aphasia | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79314
- This record as JSON: /data/d/79314.json