H00548 | |
H number | H00548 |
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 disorder |
Network | nt06028(H00548) Dopamine and serotonin metabolism |
Gene | MAOA [HSA:4128] [KO:K00274] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C59.0Y ICD-10: F54 E70.8 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 PMID:17295220 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 PMID:15630421 AUTHORS Ropers HH, Hamel BC TITLE X-linked mental retardation. JOURNAL Nat Rev Genet 6:46-57 (2005) DOI:10.1038/nrg1501 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 |