ORPHA:3057
Monoamine oxidase A deficiency
Synonyms: Brunner syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monoamine oxidase A deficiency | Brunner syndrome |
| fr | Déficit en monoamine oxydase A | Syndrome de Brunner |
| de | Monoaminoxidase-A-Mangel | Brunner-Syndrom |
| es | Deficiencia de monoamina oxidasa A | Síndrome de Brunner |
| it | Deficit di monoamina-ossidasi A | Sindrome di Brunner |
| nl | Monoamineoxidase A-deficiëntie | Syndroom van Brunner |
| pt | Deficiência de monoamina oxidase A | |
| pl | Niedobór oksydazy monoaminowej A | = en |
| cs | Deficit monoaminooxidázy A | Brunnerův syndrom |
| uk | Дефіцит моноамінооксидази А | Синдром Бруннера |
| zh | 单胺氧化酶A缺乏 | Brunner综合征 |
| tr | Monoamin oksidaz A eksikliği | Brunner sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300615 | E | validated | |
| ICD-10 | E70.8 | NTBT | attributed | validated |
| ICD-11 | 5C59.0Y | NTBT | index | validated |
| MONDO | 0010379 | E | validated | |
| MeSH | C563156 | E | validated | |
| UMLS | C0796275 | E | validated | |
| GARD | 3531 | E | validated | |
| MedDRA | 10081371 | 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:79169Disorder of neurotransmitter metabolism and transport
rare inborn errors of metabolism; rare genetic 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:3065X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAOA | Disease-causing germline mutation(s) in | Assessed | HGNC:6833 | ENSG00000189221 | 309850 | Xp11.3 | monoamine oxidase A | 8211186[PMID]_24169519[PMID] |
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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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0100543 | Cognitive impairment | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3057
- This record as JSON: /data/d/3057.json