MCID: BRN045
MIFTS: 44

Brunner Syndrome

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Brunner Syndrome

MalaCards integrated aliases for Brunner Syndrome:

Name: Brunner Syndrome 57 12 76 53 25 75 37 13 44 15 73
Monoamine Oxidase a Deficiency 12 76 53 25 29 6
Antisocial Behavior 57 55 73
Brnrs 57 75
Antisocial Behavior, Susceptibility to 6
X-Linked Monoamine Oxidase Deficiency 25
Susceptibility to Antisocial Behavior 75
Deficiency of Monoamine Oxidase a 25
Monoamine Oxidase a 13
Syndrome, Brunner 40

Characteristics:

OMIM:

57
Miscellaneous:
variable manifestations
female carriers may be mildly affected
some patients may show symptoms of serotonin syndrome
phenotype may be exacerbated by ingestion of foods high in tyramine
phenotype may be exacerbated by maltreatment in childhood

Inheritance:
x-linked recessive


HPO:

32
brunner syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Brunner Syndrome

NIH Rare Diseases : 53 Monoamine oxidase A deficiency is a rare condition that is characterized by mild intellectual disability and behavioral difficulties (including aggressive and sometimes violent behaviors and autistic features). Affected people may also experience night terrors, tremor, stereotypical hand movements, and/or occasional body twitches. Signs and symptoms generally develop in childhood and the condition is seen almost exclusively in males. Monoamine oxidase A deficiency is caused by changes (mutations) in the MAOA gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person. Some recent studies suggest that cautious treatment with certain medications (called selective serotonin reuptake inhibitors) and dietary modifications can improve symptoms.

MalaCards based summary : Brunner Syndrome, also known as monoamine oxidase a deficiency, is related to conduct disorder and substance dependence. An important gene associated with Brunner Syndrome is MAOA (Monoamine Oxidase A), and among its related pathways/superpathways are Histidine metabolism and Tyrosine metabolism. Related phenotypes are intellectual disability and self-injurious behavior

OMIM : 57 Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation associated with MAOA deficiency (Brunner et al., 1993). (300615)

UniProtKB/Swiss-Prot : 75 Brunner syndrome: 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.

Genetics Home Reference : 25 Monoamine oxidase A deficiency is a rare disorder that occurs almost exclusively in males. It is characterized by mild intellectual disability and behavioral problems beginning in early childhood.

Disease Ontology : 12 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.

Wikipedia : 76 Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is... more...

Related Diseases for Brunner Syndrome

Diseases related to Brunner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 conduct disorder 30.4 COMT DBH MAOA SLC6A4 TPH1
2 substance dependence 29.8 HTR1B MAOA SLC6A4
3 alexithymia 29.7 COMT HTR1A SLC6A4
4 antisocial personality disorder 29.2 COMT HTR1B MAOA MAOB SLC6A4
5 cocaine abuse 28.8 DBH HTR3A SLC6A4
6 substance abuse 28.1 COMT DBH HTR1B MAOA SLC6A4
7 depression 27.9 HTR1A HTR3A MAOA SLC6A4 TPH1
8 personality disorder 27.3 COMT HTR1A HTR1B MAOA MAOB SLC6A4
9 attention deficit-hyperactivity disorder 26.0 COMT DBH HTR1A HTR1B MAOA MAOB
10 alcohol dependence 24.1 COMT DBH HTR1A HTR1B HTR3A HTR7
11 schizophrenia 24.1 COMT DBH HTR1A HTR1B HTR3A HTR7
12 feingold syndrome 1 11.0
13 feingold syndrome 2 10.9
14 ectrodactyly cardiopathy dysmorphism 10.9
15 prostate cancer 10.8
16 phobia, specific 10.6 COMT MAOA
17 exhibitionism 10.5 MAOA MAOB
18 dependent personality disorder 10.5 MAOA MAOB
19 oculogyric crisis 10.5 COMT MAOB
20 chronic pulmonary heart disease 10.4 HTR7 SLC6A4
21 paranoid schizophrenia 10.4 COMT MAOA SLC6A4
22 paraphilia disorder 10.3 MAOA MAOB
23 pathological gambling 10.3 MAOA MAOB SLC6A4
24 dystonia 1, torsion, autosomal dominant 10.3 COMT MAOA MAOB
25 dysthymic disorder 10.3 HTR7 MAOA SLC6A4
26 endogenous depression 10.2 HTR7 MAOA SLC6A4
27 specific developmental disorder 10.1 COMT HTR7 SLC6A4
28 periodic limb movement disorder 10.1 HTR1A SLC6A4
29 fibromyalgia 10.1 COMT HTR3A SLC6A4
30 functional gastric disease 10.1 HTR3A HTR7
31 tobacco addiction 10.0 COMT MAOA TPH1
32 post-traumatic stress disorder 10.0 COMT MAOA MAOB SLC6A4
33 agoraphobia 10.0 HTR1A MAOA SLC6A4
34 amphetamine abuse 10.0 HTR1B HTR7 MAOB
35 kleine-levin hibernation syndrome 10.0 COMT HTR7 TPH1
36 bipolar i disorder 9.9 COMT HTR1A SLC6A4
37 drug-induced mental disorder 9.9 HTR1A HTR7
38 atypical depressive disorder 9.9 HTR7 MAOA MAOB SLC6A4
39 functional diarrhea 9.9 HTR3A HTR7
40 drug psychosis 9.9 HTR1A HTR7
41 psychosexual disorder 9.9 HTR1A HTR7 SLC6A4
42 migraine without aura 9.8 HTR1A SLC6A4
43 opiate dependence 9.8 SLC6A4 TPH1
44 intermittent explosive disorder 9.8 HTR1A HTR7 SLC6A4
45 aging 9.8
46 resting heart rate, variation in 9.8
47 alcohol abuse 9.8
48 cannabis dependence 9.8
49 narcissistic personality disorder 9.8
50 drug dependence 9.8

Graphical network of the top 20 diseases related to Brunner Syndrome:



Diseases related to Brunner Syndrome

Symptoms & Phenotypes for Brunner Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
autism
impulsivity
temper tantrums
obsessive tendencies
attention-deficit hyperactivity disorder
more
Abdomen Gastrointestinal:
diarrhea, episodic (in some patients)

Laboratory Abnormalities:
decreased monoamine oxidase a activity
increased serotonin
increased urinary levels of maoa substrates (endogenous bioamines)
decreased serum levels of maoa products
increased urinary metanephrines
more
Neurologic Central Nervous System:
headache, episodic
learning disabilities
essential tremor
delayed motor development (in some patients)
intellectual disability, mild to severe
more
Skin Nails Hair Skin:
flushing, episodic (in some patients)


Clinical features from OMIM:

300615

Human phenotypes related to Brunner Syndrome:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 self-injurious behavior 32 HP:0100716
3 behavioral abnormality 32 hallmark (90%) HP:0000708
4 cognitive impairment 32 hallmark (90%) HP:0100543
5 autism 32 HP:0000717
6 aggressive behavior 32 HP:0000718
7 motor delay 32 occasional (7.5%) HP:0001270
8 low frustration tolerance 32 HP:0000744

GenomeRNAi Phenotypes related to Brunner Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 9.28 HTR1A HTR3A SLC6A4
2 Decreased viability GR00381-A-3 9.28 HTR1A HTR3A SLC6A4
3 Decreased viability GR00402-S-2 9.28 HTR3A SLC6A4 HTR1A

MGI Mouse Phenotypes related to Brunner Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 DBH HTR1A HTR1B HTR3A HTR7 MAOA
2 homeostasis/metabolism MP:0005376 9.81 COMT DBH HTR1A HTR3A HTR7 MAOA
3 cardiovascular system MP:0005385 9.8 COMT DBH HTR1A HTR1B MAOA SLC6A4
4 integument MP:0010771 9.43 DBH HTR3A HTR7 MYCBP2 SLC6A4 TPH1
5 nervous system MP:0003631 9.28 COMT DBH HTR1A HTR3A HTR7 MAOA

Drugs & Therapeutics for Brunner Syndrome

Search Clinical Trials , NIH Clinical Center for Brunner Syndrome

Cochrane evidence based reviews: brunner syndrome

Genetic Tests for Brunner Syndrome

Genetic tests related to Brunner Syndrome:

# Genetic test Affiliating Genes
1 Monoamine Oxidase a Deficiency 29 MAOA

Anatomical Context for Brunner Syndrome

Publications for Brunner Syndrome

Articles related to Brunner Syndrome:

# Title Authors Year
1
New insights into Brunner syndrome and potential for targeted therapy. ( 25807999 )
2015
2
Aggressive behavior and Brunner syndrome: no evidence for the C936T mutation in a population sample. ( 11378857 )
2001

Variations for Brunner Syndrome

ClinVar genetic disease variations for Brunner Syndrome:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAOA NM_000240.3(MAOA): c.886C> T (p.Gln296Ter) single nucleotide variant Pathogenic rs72554632 GRCh37 Chromosome X, 43591031: 43591031
2 MAOA NM_000240.3(MAOA): c.886C> T (p.Gln296Ter) single nucleotide variant Pathogenic rs72554632 GRCh38 Chromosome X, 43731784: 43731784
3 MAOA NM_000240.3(MAOA) NT expansion Pathogenic,risk factor GRCh37 Chromosome X, 43514349: 43514378
4 MAOA NM_000240.3(MAOA) NT expansion Pathogenic,risk factor GRCh38 Chromosome X, 43655101: 43655130
5 MAOA NM_000240.3(MAOA): c.797G> T (p.Cys266Phe) single nucleotide variant Pathogenic rs587777457 GRCh37 Chromosome X, 43590942: 43590942
6 MAOA NM_000240.3(MAOA): c.797G> T (p.Cys266Phe) single nucleotide variant Pathogenic rs587777457 GRCh38 Chromosome X, 43731695: 43731695
7 MAOA NM_000240.3(MAOA): c.825G> A (p.Pro275=) single nucleotide variant Conflicting interpretations of pathogenicity rs138703731 GRCh37 Chromosome X, 43590970: 43590970
8 MAOA NM_000240.3(MAOA): c.825G> A (p.Pro275=) single nucleotide variant Conflicting interpretations of pathogenicity rs138703731 GRCh38 Chromosome X, 43731723: 43731723
9 MAOA NM_000240.3(MAOA): c.133C> T (p.Arg45Trp) single nucleotide variant Pathogenic rs796065312 GRCh38 Chromosome X, 43683572: 43683572
10 MAOA NM_000240.3(MAOA): c.133C> T (p.Arg45Trp) single nucleotide variant Pathogenic rs796065312 GRCh37 Chromosome X, 43542820: 43542820
11 MAOA NM_000240.3(MAOA): c.749_750insT (p.Ser251Lysfs) insertion Pathogenic rs796065311 GRCh37 Chromosome X, 43590591: 43590592
12 MAOA NM_000240.3(MAOA): c.749_750insT (p.Ser251Lysfs) insertion Pathogenic rs796065311 GRCh38 Chromosome X, 43731344: 43731345
13 MAOA NM_000240.3(MAOA): c.730G> A (p.Val244Ile) single nucleotide variant Likely pathogenic rs1135401773 GRCh37 Chromosome X, 43590572: 43590572
14 MAOA NM_000240.3(MAOA): c.730G> A (p.Val244Ile) single nucleotide variant Likely pathogenic rs1135401773 GRCh38 Chromosome X, 43731325: 43731325
15 MAOA NM_000240.3(MAOA): c.515G> A (p.Arg172Gln) single nucleotide variant Benign rs58524323 GRCh38 Chromosome X, 43728184: 43728184
16 MAOA NM_000240.3(MAOA): c.515G> A (p.Arg172Gln) single nucleotide variant Benign rs58524323 GRCh37 Chromosome X, 43587431: 43587431

Expression for Brunner Syndrome

Search GEO for disease gene expression data for Brunner Syndrome.

Pathways for Brunner Syndrome

Pathways related to Brunner Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Histidine metabolism hsa00340
2 Tyrosine metabolism hsa00350
3 Tryptophan metabolism hsa00380
4 Dopaminergic synapse hsa04728

Pathways related to Brunner Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1 12.33 COMT DBH HTR1A TPH1
3
Show member pathways
11.97 MAOA MAOB TPH1
4 11.87 HTR1A HTR3A MAOA SLC6A4 TPH1
5
Show member pathways
11.8 HTR1A HTR1B HTR3A
6
Show member pathways
11.76 HTR1A HTR1B HTR7
7 11.61 DBH MAOA TPH1
8 11.61 HTR1A HTR1B HTR3A HTR7 MAOA MAOB
9
Show member pathways
11.55 COMT DBH MAOA MAOB
10
Show member pathways
11.27 DBH MAOA SLC6A4
11
Show member pathways
11.18 DBH TPH1
12
Show member pathways
11.1 MAOA MAOB
13
Show member pathways
11.02 COMT MAOA SLC6A4
14
Show member pathways
10.8 COMT DBH MAOA TPH1
15
Show member pathways
10.76 COMT MAOA MAOB
16 10.64 COMT MAOA MAOB
17
Show member pathways
10.62 MAOA MAOB
18 10.61 HTR1A HTR1B HTR3A HTR7 MAOA SLC6A4

GO Terms for Brunner Syndrome

Cellular components related to Brunner Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.61 COMT DBH HTR1A HTR1B HTR3A HTR7
2 dendrite GO:0030425 8.92 COMT HTR1A HTR1B HTR7

Biological processes related to Brunner Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.8 COMT HTR1B MAOB SLC6A4
2 chemical synaptic transmission GO:0007268 9.72 DBH HTR1A HTR1B HTR3A HTR7
3 response to ethanol GO:0045471 9.7 HTR1B HTR3A MAOB
4 circadian rhythm GO:0007623 9.63 HTR7 SLC6A4 TPH1
5 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.58 HTR1A HTR1B HTR7
6 response to cocaine GO:0042220 9.57 HTR1B HTR3A
7 G-protein coupled serotonin receptor signaling pathway GO:0098664 9.56 HTR1A HTR1B
8 response to pain GO:0048265 9.55 COMT DBH
9 bone remodeling GO:0046849 9.54 HTR1B TPH1
10 regulation of behavior GO:0050795 9.51 HTR1A HTR1B
11 catecholamine metabolic process GO:0006584 9.48 COMT MAOA
12 behavior GO:0007610 9.43 HTR1A HTR1B
13 neurotransmitter catabolic process GO:0042135 9.43 COMT MAOA MAOB
14 negative regulation of serotonin secretion GO:0014063 9.37 HTR1B MAOB
15 adenylate cyclase-inhibiting serotonin receptor signaling pathway GO:0007198 9.33 HTR1A HTR1B HTR7
16 vasoconstriction GO:0042310 9.26 HTR1A HTR1B HTR7 SLC6A4
17 dopamine catabolic process GO:0042420 8.92 COMT DBH MAOA MAOB

Molecular functions related to Brunner Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.62 DBH MAOA MAOB TPH1
2 neurotransmitter receptor activity GO:0030594 9.33 HTR1A HTR1B HTR7
3 primary amine oxidase activity GO:0008131 9.26 MAOA MAOB
4 G-protein coupled serotonin receptor activity GO:0004993 9.13 HTR1A HTR1B HTR7
5 serotonin binding GO:0051378 8.92 HTR1A HTR1B HTR3A HTR7

Sources for Brunner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....