ORPHA:289902
3-methylglutaconic aciduria
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3-methylglutaconic aciduria | |
| fr | Acidurie 3-méthylglutaconique | |
| de | 3-Methylglutaconazidurie | |
| es | Aciduria 3-metilglutacónica | |
| it | Aciduria 3-metilglutaconica | |
| nl | 3-methylglutaconacidurie | |
| pt | Acidúria 3-metilglutacónica | |
| pl | Acyduria 3-metyloglutakonowa | |
| cs | 3-methylglutakonová acidurie | |
| uk | 3-метилглутаконова ацидурія | |
| zh | 3-甲基谷氨酸尿症 | |
| tr | 3-metilglutakonik asidüri |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017359 | E | validated | |
| MONDO | 17359 | E | validated | |
| MeSH | C579867 | E | validated | |
| UMLS | C3696376 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79163Classic organic aciduria
rare inborn errors of metabolism; rare genetic diseases
Children (9):
- ORPHA:670463-methylglutaconic aciduria type 1
- ORPHA:670473-methylglutaconic aciduria type 3
- ORPHA:670483-methylglutaconic aciduria type 4
- ORPHA:5052083-methylglutaconic aciduria type 8
- ORPHA:5052163-methylglutaconic aciduria type 9
- ORPHA:4450383-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- ORPHA:111Barth syndrome
- ORPHA:66634Dilated cardiomyopathy with ataxia
- ORPHA:352328MEGDEL syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289902
- This record as JSON: /data/d/289902.json