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Brunner syndrome

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description 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.
Uniprot Description A form of X-linked non-dysmorphic mild mental retardation. Male patients are affected by borderline mental retardation and exhibit abnormal behavior, including disturbed regulation of impulsive aggression. Obligate female carriers have normal intelligence and behavior.
Disease Ontology Description An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11.
Mondo Term and Equivalent IDs
MONDO:0010379:  Brunner syndrome
GARD:0003531: 
MESH:C563156: 
Orphanet:3057: 
SCTID:718210003: 
UMLS:C0796275: