ORPHA:505216
3-methylglutaconic aciduria type 9
Synonyms: 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome · MGA9
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3-methylglutaconic aciduria type 9 | 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome · MGA9 |
| fr | Acidurie 3-méthylglutaconique type 9 | AMG9 · MGA9 · Syndrome d'acidurie 3-méthylglutaconique-épilepsie-spasticité-déficience intellectuelle |
| de | 3-Methylglutaconazidurie Typ 9 | 3-Methylglutaconazidurie-Epilepsie-Spastik-schwere Intelligenzminderung-Syndrom · MGA9 |
| es | Aciduria 3-metilglutacónica tipo 9 | MGA9 · Síndrome de aciduria 3-metilglutacónica-epilepsia-espasticidad-discapacidad intelectual grave |
| it | Aciduria 3-metilglutaconica tipo 9 | |
| nl | 3-methylglutaconacidurie type 9 | 3-methylglutaconacidurie - epilepsie - spasticiteit - ernstige intellectuele achterstand-syndroom · MGA9 |
| pt | Acidúria 3-metilglutacónica tipo 9 | |
| pl | Kwasica 3-metyloglutakonowa typ 9 | Zespół kwasicy 3-metyloglutakonowej, padaczki, spastyczności i znacznej niepełnosprawności intelektualnej |
| cs | 3-metylglutakonová acidurie, typ 9 | MGA9 · Syndrom zahrnující 3-metylglutakonovou acidurii, epilepsii, spasticitu a těžkou mentální retardaci |
| uk | 3-метилглутаконова ацидурія, тип 9 | Синдром 3-метилглутаконової ацидурії - епілепсії - спастичності - тяжкої інтелектуальної недостатності · MGA9 |
| zh | 3-甲基戊二酸尿症9型 | 3-甲基戊二酸尿症-癫痫-痉挛-严重智力障碍综合症 |
| tr | 3-metilglutakonik asidüri tip 9 | MGA9 · 3-metilglutakonik asidüri-epilepsi-spastisite-ağır zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617698 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | attributed | validated |
| MONDO | 0044724 | E | validated | |
| UMLS | C4540171 | 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 (4):
- ORPHA:2899023-methylglutaconic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225689Amino acid or protein metabolism disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TIMM50 | Disease-causing germline mutation(s) in | Assessed | HGNC:23656 | ENSG00000105197 | 607381 | 19q13.2 | translocase of inner mitochondrial membrane 50 | 27573165[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 27573165[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27573165[PMID] |
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
25 annotations · validated 2019-04-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003535 | 3-Methylglutaconic aciduria | Diagnostic criterion |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000718 | Aggressive behavior | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002169 | Clonus | |
| HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | Diagnostic criterion |
| HP:0031936 | Delayed ability to walk | |
| HP:0002194 | Delayed gross motor development | |
| HP:0007204 | Diffuse white matter abnormalities | |
| HP:0002353 | EEG abnormality | |
| HP:0001298 | Encephalopathy | |
| HP:0001508 | Failure to thrive | |
| HP:0001252 | Hypotonia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001324 | Muscle weakness | |
| HP:0001533 | Slender build | |
| HP:0002133 | Status epilepticus | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0001347 | Hyperreflexia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0000648 | Optic atrophy | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 27573165[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/505216
- This record as JSON: /data/d/505216.json