ORPHA:67048
3-methylglutaconic aciduria type 4
Synonyms: MGA4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3-methylglutaconic aciduria type 4 | MGA4 |
| fr | Acidurie 3-méthylglutaconique type 4 | AGM4 |
| de | 3-Methylglutaconazidurie Typ 4 | MGA 4 |
| es | Aciduria 3-metilglutacónica tipo 4 | = en |
| it | Aciduria 3-metilglutaconica, tipo 4 | MGA 4 |
| nl | 3-methylglutaconacidurie type 4 | = en |
| pt | Acidúria 3-metilglutacónica tipo 4 | MGA 4 |
| pl | Kwasica 3-metyloglutakonowa typu 4 | = en |
| cs | 3-methylglutakonová acidurie, typ 4 | = en |
| uk | 3-метилглутаконова ацидурія, тип 4 | = en |
| zh | 3-甲基戊二酸尿症4型 | = en |
| tr | 3-metilglutakonik asidüri tip 4 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250951 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0009611 | E | validated | |
| MeSH | C565393 | E | validated | |
| UMLS | C1855126 | E | validated | |
| GARD | 10342 | 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 (3):
- ORPHA:2899023-methylglutaconic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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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.
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HPO phenotypes
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003535 | 3-Methylglutaconic aciduria | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0002195 | Dysgenesis of the cerebellar vermis | |
| Occasional (29-5%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0000518 | Cataract | |
| HP:0001410 | Decreased liver function | |
| HP:0000365 | Hearing impairment | |
| HP:0001943 | Hypoglycemia | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0003128 | Lactic acidosis | |
| HP:0000252 | Microcephaly | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/67048
- This record as JSON: /data/d/67048.json