ORPHA:445038
3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
Synonyms: 3-methylglutaconic aciduria type 7 · MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome · MGA7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome | 3-methylglutaconic aciduria type 7 · MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome · MGA7 |
| fr | Syndrome de cataracte néonatale-atteinte neurologique-neutropénie congénitale-acidurie 3-méthylglutaconique | AMG7 · Acidurie 3-méthylglutaconique type 7 · MGA7 · Syndrome de cataracte néonatale-atteinte neurologique-neutropénie congénitale-AMG · Syndrome de cataracte néonatale-atteinte neurologique-neutropénie congénitale-MGA |
| de | 3-Methylglutaconazidurie-Katarakt-neurologische Beteiligung-Neutropenie-Syndrom | 3-Methylglutaconazidurie Typ 7 · MGA-neonataler Katarakt-neurologische Beteiligung-kongenitale Neutropenie-Syndrom · MGA7 |
| es | Síndrome de aciduria 3-metilglutacónica-catarata neonatal-afectación neurológica-neutropenia congénita | Aciduria 3-metilglutacónica tipo 7 · MGA7 · Síndrome MGA-catarata neonatal-afectación neurológica-neutropenia congénita |
| it | Sindrome aciduria 3 metilglutaconica-cataratta neonatale-interessamneto neurologico-neutropenia congenita | Aciduria 3-metilglutaconica, tipo 7 · MGA7 · Sindrome MGA-cataratta neonatale-interessamneto neurologico-neutropenia congenita |
| nl | 3-methylglutaconacidurie - neonataal cataract - neurologische betrokkenheid - congenitale neutropenie-syndroom | 3-methylglutaconacidurie type 7 · MGA - neonataal cataract - neurologische betrokkenheid - congenitale neutropenie-syndroom · MGA7 |
| pt | Síndrome de acidúria 3-metilglutacónica-catarata neonatal-envolvimento neurológico-neutropenia congénita | Acidúria 3-metilglutacónica tipo 7 · MGA7 · Síndrome MGA-catarata neonatal-envolvimento neurológico-neutropenia congénita |
| pl | Zespół kwasicy 3-metyloglutakonowej, zaćmy noworodkowej, zaburzeń neurologicznych oraz wrodzonej neutropenii | MGA7 · Zespół acydurii 3-metyloglutakonowej, zaćmy, zaburzeń neurologicznych i neutropenii |
| cs | 3-methylglutakonová acidurie, typ 7 | Syndrom zahrnující 3-methylglutakonovou acidurii, kataraktu, neurologickou poruchu a neutropenii · MGA7 |
| uk | Синдром 3-метилглутаконової ацидурії-неонатальної катаракти-неврологічних уражень-вродженої нейтропенії | 3-метилглутаконова ацидурія типу 7 · MGA7 · Синдром МГА - неонатальна катаракта - неврологічне ураження - вродженаї нейтропенія |
| zh | 3-甲基戊酸尿症7型 | 3-甲基谷氨酸酸尿症-白内障-神经系统受累-中性粒细胞减少综合征 |
| tr | 3-metilglutakonik asidüri tip 7 | MGA7 · 3-metilglutakonik asidüri-katarakt-nörolojik tutulum-nötropeni sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616271 | E | validated | |
| OMIM | 619835 | BTNT | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | attributed | validated |
| MONDO | 14561 | E | validated | |
| UMLS | C4225393 | 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 (5):
- 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 - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLPB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30664 | ENSG00000162129 | 616254 | 11q13.4 | ClpB family mitochondrial disaggregase | 25597511[PMID]_25597510[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 25650066[PMID]_25597511[PMID]_25597510[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25650066[PMID]_25597511[PMID]_25597510[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
38 annotations · validated 2019-04-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003535 | 3-Methylglutaconic aciduria | Diagnostic criterion |
| HP:0000518 | Cataract | Diagnostic criterion |
| HP:0001875 | Decreased total neutrophil count | Diagnostic criterion |
| HP:0000121 | Nephrocalcinosis | |
| HP:0011451 | Primary microcephaly | |
| HP:0000107 | Renal cyst | |
| Frequent (79-30%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0001266 | Choreoathetosis | |
| HP:0002194 | Delayed gross motor development | |
| HP:0002376 | Developmental regression | |
| HP:0001298 | Encephalopathy | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0001252 | Hypotonia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0410256 | Infection associated neutropenia | |
| HP:0001249 | Intellectual disability | |
| HP:0001336 | Myoclonus | |
| HP:0002179 | Opisthotonus | |
| HP:0007153 | Progressive extrapyramidal movement disorder | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001276 | Hypertonia | |
| HP:0000821 | Hypothyroidism | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0000639 | Nystagmus | |
| HP:0000083 | Renal insufficiency | |
| HP:0002878 | Respiratory failure | |
| HP:0001250 | Seizure | |
| Very rare (<4-1%) | ||
| HP:0002107 | Pneumothorax | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 25595726[PMID]_25597511[PMID]_25597510[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/445038
- This record as JSON: /data/d/445038.json