ORPHA:727719
Monoamine oxidase A and monoamine oxidase B deficiency
Synonyms: Monoamine oxidase A and monoamine oxidase B deletion syndrome · MAOA/B deletion syndrome · MAOA/B deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monoamine oxidase A and monoamine oxidase B deficiency | Monoamine oxidase A and monoamine oxidase B deletion syndrome · MAOA/B deletion syndrome · MAOA/B deficiency |
| fr | Déficit en monoamine oxydase A et monoamine oxydase B | Syndrome de délétion de la monoamine oxydase A et la monoamine oxydase B · Syndrome de délétion MAOA/B · Déficit MAOA/B |
| de | Monoaminoxidase-A- und Monoaminoxidase-B-Mangel | MAOA/B-Mangel · Monoaminoxidase-A- und Monoaminoxidase-B-Deletionssyndrom · MAOA/B-Deletionssyndrom |
| es | Deficiencia de monoaminooxidasa A y monoaminooxidasa B | Deficiencia de MAOA/B · Síndrome de deleción de MAOA/B · Síndrome de deleción de monoaminooxidasa A y monoaminooxidasa B |
| it | Deficit di monoamino ossidasi A e monoamino ossidasi B | Deficit di MAOA/B · Sindrome da delezione di MAOA/B · Sindrome da delezione di monoamino ossidasi A e monoamino ossidasi B |
| nl | Deficiëntie van monoamineoxidase A en monoamineoxidase B | MAOA/B-deletiesyndroom · Monoamineoxidase A en monoamineoxidase B-deletiesyndroom |
| pt | Monoamine oxidase A and monoamine oxidase B deficiency | |
| pl | Monoamine oxidase A and monoamine oxidase B deficiency | = en |
| cs | Monoamine oxidase A and monoamine oxidase B deficiency | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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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.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAOA | Role in the phenotype of | Assessed | HGNC:6833 | ENSG00000189221 | 309850 | Xp11.3 | monoamine oxidase A | 23414621[PMID] |
| MAOB | Role in the phenotype of | Assessed | HGNC:6834 | ENSG00000069535 | 309860 | Xp11.3 | monoamine oxidase B | 23414621[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/727719
- This record as JSON: /data/d/727719.json