KEGG   DISEASE: Brunner syndrome
Entry
H00548                      Disease                                
Name
Brunner syndrome;
MAOA deficiency
Description
Brunner syndrome (BRNRS) 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 disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C59  Inborn errors of neurotransmitter metabolism
     H00548  Brunner syndrome
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06028  Dopamine and serotonin metabolism
   H00548  Brunner syndrome
 Cellular process
  nt06544  Neuroactive ligand signaling
   H00548  Brunner syndrome
Pathway
hsa00350  Tyrosine metabolism
hsa00380  Tryptophan metabolism
hsa04728  Dopaminergic synapse
Network
nt06028 Dopamine and serotonin metabolism
nt06544 Neuroactive ligand signaling
Gene
MAOA [HSA:4128] [KO:K00274]
Other DBs
ICD-11: 5C59.0Y
MeSH: C563156
OMIM: 300615
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)
DOI:10.1126/science.8211186
Reference
  Authors
Craig IW
  Title
The importance of stress and genetic variation in human aggression.
  Journal
Bioessays 29:227-36 (2007)
DOI:10.1002/bies.20538
Reference
  Authors
Ropers HH, Hamel BC
  Title
X-linked mental retardation.
  Journal
Nat Rev Genet 6:46-57 (2005)
DOI:10.1038/nrg1501
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)
DOI:10.1002/9780470514825.ch9
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