ORPHA:79315
D-2-hydroxyglutaric aciduria
Synonyms: D-2-HGA · D-2-hydroxyglutaric acidemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | D-2-hydroxyglutaric aciduria | D-2-HGA · D-2-hydroxyglutaric acidemia |
| fr | Acidurie D-2-hydroxyglutarique | Acidémie D-2-hydroxyglutarique · D-2-HGA |
| de | D-2-Hydroxy-Glutarazidurie | D-2-Hydroxyglutaryl-Azidämie · D-2-HGA |
| es | Aciduria D-2-hidroxiglutárica | Acidemia D-2-hidroxiglutárica · D-2-HGA |
| it | Aciduria D-2-idrossiglutarica | Acidemia D-2-idrossiglutarica · D-2-HGA |
| nl | D-2-hydroxyglutaaracidurie | D-2-HGA · D-2-hydroxyglutaaracidemie |
| pt | Acidúria D-2-hidroxiglutárica | |
| pl | D-2-acyduria hydroksyglutarowa | D-2-HGA · D-2-kwasica hydroksyglutarowa |
| cs | D-2-Hydroxyglutarová acidurie | D-2-HGA · D-2-Hydroxyglutarová acidémie |
| uk | D-2-гідроксиглутарова ацидурія | D-2-HGA · D-2-гідроксиглутарова ацидемія |
| zh | D-2-羟基戊二酸尿症 | D-2-羟基戊二酸血症 |
| tr | D-2-hidroksiglutarik asidüri | D-2-HGA · D-2-hidroksiglutarik asidemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600721 | E | validated | |
| OMIM | 613657 | BTNT | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.E1 | NTBT | index | validated |
| MONDO | 0010924 | E | validated | |
| UMLS | C1833429 | E | validated | |
| GARD | 5661 | 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 (1):
- ORPHA:192-hydroxyglutaric aciduria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IDH2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:5383 | ENSG00000182054 | 147650 | 15q26.1 | isocitrate dehydrogenase (NADP(+)) 2 | 20847235[PMID] |
| D2HGDH | Disease-causing germline mutation(s) in | Assessed | HGNC:28358 | ENSG00000180902 | 609186 | 2q37.3 | D-2-hydroxyglutarate dehydrogenase | 20020533[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 80 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
13 annotations · validated 2025-08-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040146 | D-2-hydroxyglutaric acidemia | |
| HP:0012321 | D-2-hydroxyglutaric aciduria | |
| HP:6000246 | Elevated CSF D-2-hydroxyglutaric acid concentration | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0001252 | Hypotonia | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0012448 | Delayed myelination | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001298 | Encephalopathy | |
| HP:0010307 | Stridor | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 35359529[PMID]_39839460[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79315
- This record as JSON: /data/d/79315.json