KEGG   DISEASE: H00548Help
Entry
H00548                      Disease                                

Name
Brunner syndrome;
MAOA deficiency
Description
Brunner syndrome is a form of X-linked non-dysmorphic mild mental retardation. It is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin, dopamine, and epinephrine.
Category
Inherited metabolic disease; Mental retardation
BRITE hierarchy
Pathway
Histidine metabolism
Tyrosine metabolism
Tryptophan metabolism
Dopaminergic synapse
Gene
MAOA [HSA:4128] [KO:K00274]
Marker
Serotonin [CPD:C00780]
Dopamine [CPD:C03758]
Norepinephrine [CPD:C00547]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:8211186
  Authors
Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA
  Title
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.
  Journal
Science 262:578-80 (1993)
Reference
  Authors
Craig IW
  Title
The importance of stress and genetic variation in human aggression.
  Journal
Bioessays 29:227-36 (2007)
Reference
  Authors
Ropers HH, Hamel BC
  Title
X-linked mental retardation.
  Journal
Nat Rev Genet 6:46-57 (2005)
Reference
PMID:8862875
  Authors
Brunner HG
  Title
MAOA deficiency and abnormal behaviour: perspectives on an association.
  Journal
Ciba Found Symp 194:155-64; discussion 164-7 (1996)

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