BRNRS
MCID: BRN045
MIFTS: 50

Brunner Syndrome (BRNRS)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Brunner Syndrome

MalaCards integrated aliases for Brunner Syndrome:

Name: Brunner Syndrome 58 12 77 54 26 76 38 13 45 15 74
Monoamine Oxidase a Deficiency 12 77 54 26 30 6
Antisocial Behavior 58 56 74
Brnrs 58 76
Antisocial Behavior, Susceptibility to 6
X-Linked Monoamine Oxidase Deficiency 26
Susceptibility to Antisocial Behavior 76
Deficiency of Monoamine Oxidase a 26
Anti-Social Behavior 17
Monoamine Oxidase a 13
Syndrome, Brunner 41

Characteristics:

OMIM:

58
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:

33
brunner syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Brunner Syndrome

NIH Rare Diseases : 54 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 dysthymic disorder. An important gene associated with Brunner Syndrome is MAOA (Monoamine Oxidase A), and among its related pathways/superpathways are Histidine metabolism and Tyrosine metabolism. Affiliated tissues include prostate, heart and adrenal gland, and related phenotypes are behavioral abnormality and cognitive impairment

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.

Genetics Home Reference : 26 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.

OMIM : 58 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 : 76 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.

Wikipedia : 77 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 125)
# Related Disease Score Top Affiliating Genes
1 conduct disorder 31.6 COMT DBH MAOA SLC6A4 TPH1
2 dysthymic disorder 30.2 MAOA SLC6A4
3 paranoid schizophrenia 30.1 COMT MAOA SLC6A4
4 postpartum depression 30.1 COMT MAOA SLC6A4
5 substance dependence 30.0 HTR1B MAOA SLC6A4
6 alexithymia 29.9 COMT HTR1A SLC6A4
7 fibromyalgia 29.9 COMT HTR3A SLC6A4
8 antisocial personality disorder 29.8 COMT HTR1B MAOA MAOB SLC6A4
9 substance abuse 29.8 COMT DBH HTR1B MAOA SLC6A4
10 agoraphobia 29.8 HTR1A MAOA SLC6A4
11 bipolar disorder 29.8 COMT HTR1A SLC6A4 TPH1
12 panic disorder 29.8 COMT HTR1A HTR3A MAOA SLC6A4
13 oppositional defiant disorder 29.7 COMT DBH MAOA SLC6A4
14 personality disorder 29.6 COMT HTR1A HTR1B MAOA SLC6A4 TPH1
15 depression 29.5 HTR1A MAOA SLC6A4 TPH1
16 social phobia 29.5 HTR1A HTR3A MAOA SLC6A4
17 sudden infant death syndrome 29.5 HTR1A HTR3A MAOA SLC6A4 TPH1
18 cocaine abuse 29.5 DBH HTR3A SLC6A4
19 borderline personality disorder 29.2 COMT HTR1A HTR1B MAOA SLC6A4 TPH1
20 major depressive disorder 29.0 COMT HTR1A HTR1B HTR3A MAOA SLC6A4
21 mood disorder 29.0 COMT HTR1A HTR1B MAOA MAOB SLC6A4
22 anxiety 28.9 COMT HTR1A HTR3A MAOA SLC6A4 TPH1
23 parkinson disease, late-onset 28.6 COMT DBH HTR1A MAOA MAOB SLC6A4
24 attention deficit-hyperactivity disorder 28.4 COMT DBH HTR1A HTR1B MAOA MAOB
25 alcohol dependence 28.3 COMT DBH HTR1A HTR1B HTR3A MAOA
26 schizophrenia 27.7 COMT DBH HTR1A HTR1B HTR3A MAOA
27 feingold syndrome 1 11.3
28 feingold syndrome 2 11.1
29 ectrodactyly cardiopathy dysmorphism 11.1
30 prostate cancer 11.0
31 rheumatoid arthritis 10.5
32 pancreatic ductal adenocarcinoma 10.5
33 respiratory syncytial virus infectious disease 10.5
34 phobia, specific 10.4 COMT MAOA
35 alzheimer disease 10.3
36 major affective disorder 1 10.3
37 major affective disorder 8 10.3
38 major affective disorder 7 10.3
39 major affective disorder 9 10.3
40 exhibitionism 10.3 MAOA MAOB
41 dependent personality disorder 10.3 MAOA MAOB
42 autism 10.2
43 oculogyric crisis 10.2 COMT MAOB
44 pol iii-related leukodystrophies 10.2
45 quebec platelet disorder 10.2 F5 SPARC
46 atypical depressive disorder 10.2 MAOA MAOB SLC6A4
47 dystonia 1, torsion, autosomal dominant 10.2 COMT MAOA MAOB
48 prostate cancer, hereditary, 8 10.2
49 prostate cancer, hereditary, 6 10.2
50 pathological gambling 10.2 MAOA MAOB SLC6A4

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



Diseases related to Brunner Syndrome

Symptoms & Phenotypes for Brunner Syndrome

Human phenotypes related to Brunner Syndrome:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 33 hallmark (90%) HP:0000708
2 cognitive impairment 33 hallmark (90%) HP:0100543
3 motor delay 33 occasional (7.5%) HP:0001270
4 intellectual disability 33 HP:0001249
5 self-injurious behavior 33 HP:0100716
6 autism 33 HP:0000717
7 aggressive behavior 33 HP:0000718
8 headache 33 HP:0002315
9 impulsivity 33 HP:0100710
10 low frustration tolerance 33 HP:0000744
11 kinetic tremor 33 HP:0030186

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# 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 HTR1A HTR3A SLC6A4

MGI Mouse Phenotypes related to Brunner Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 COMT DBH F5 HTR1A HTR1B HTR3A
2 cardiovascular system MP:0005385 9.97 COMT DBH F5 F7 HTR1A HTR1B
3 growth/size/body region MP:0005378 9.91 DBH F5 F7 HTR1B HTR3A MYCBP2
4 homeostasis/metabolism MP:0005376 9.9 COMT DBH F5 F7 HTR1A HTR3A
5 integument MP:0010771 9.5 DBH F5 HTR3A MYCBP2 SLC6A4 SPARC
6 nervous system MP:0003631 9.28 COMT DBH F5 HTR1A HTR3A 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 30 MAOA

Anatomical Context for Brunner Syndrome

MalaCards organs/tissues related to Brunner Syndrome:

42
Prostate, Heart, Adrenal Gland, Brain

Publications for Brunner Syndrome

Articles related to Brunner Syndrome:

(show all 18)
# Title Authors Year
1
New insights into Brunner syndrome and potential for targeted therapy. ( 25807999 )
2016
2
The aggression and behavioral abnormalities associated with monoamine oxidase A deficiency are rescued by acute inhibition of serotonin reuptake. ( 24882701 )
2014
3
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. ( 24169519 )
2014
4
Autism severity is associated with child and maternal MAOA genotypes. ( 20573161 )
2011
5
Monoamine oxidase A gene (MAOA) predicts behavioral aggression following provocation. ( 19168625 )
2009
6
The VNTR 2 repeat in MAOA and delinquent behavior in adolescence and young adulthood: associations and MAOA promoter activity. ( 18212819 )
2008
7
Monoamine oxidase-a genetic variations influence brain activity associated with inhibitory control: new insight into the neural correlates of impulsivity. ( 16202396 )
2006
8
Neural mechanisms of genetic risk for impulsivity and violence in humans. ( 16569698 )
2006
9
Monoamine oxidase A-deficiency and noradrenergic respiratory regulations in neonatal mice. ( 12672546 )
2003
10
Association of autism severity with a monoamine oxidase A functional polymorphism. ( 12919132 )
2003
11
Role of genotype in the cycle of violence in maltreated children. ( 12161658 )
2002
12
Aggressive behavior and Brunner syndrome: no evidence for the C936T mutation in a population sample. ( 11378857 )
2001
13
Mild learning difficulties and offending behaviour--is there a link with monoamine oxidase A deficiency? ( 11702062 )
2001
14
Monoamine oxidase deficiency: a cause of flushing and attention-deficit/ hyperactivity disorder? ( 11700166 )
2001
15
5-Hydroxytryptamine(2A) and 5-hydroxytryptamine(1B) receptors are differently affected by the monoamine oxidase A-deficiency in the Tg8 transgenic mouse. ( 11109001 )
2000
16
Monoamine oxidase A deficiency: biogenic amine metabolites in random urine samples. ( 9564603 )
1998
17
A functional polymorphism in the monoamine oxidase A gene promoter. ( 9799080 )
1998
18
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. ( 8211186 )
1993

Variations for Brunner Syndrome

ClinVar genetic disease variations for Brunner Syndrome:

6 (show all 20)
# 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 rs1346551029 GRCh37 Chromosome X, 43514349: 43514378
4 MAOA NM_000240.3(MAOA) NT expansion Pathogenic,risk factor rs1346551029 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 GRCh37 Chromosome X, 43587431: 43587431
16 MAOA NM_000240.3(MAOA): c.515G> A (p.Arg172Gln) single nucleotide variant Benign rs58524323 GRCh38 Chromosome X, 43728184: 43728184
17 MAOA NM_000240.3(MAOA): c.402G> A (p.Met134Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 43571214: 43571214
18 MAOA NM_000240.3(MAOA): c.402G> A (p.Met134Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 43711967: 43711967
19 MAOA NM_000240.3(MAOA): c.890G> A (p.Arg297Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 43591035: 43591035
20 MAOA NM_000240.3(MAOA): c.890G> A (p.Arg297Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 43731788: 43731788

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:

38
# 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 15)
# Super pathways Score Top Affiliating Genes
1 12.33 COMT DBH HTR1A TPH1
3 11.87 HTR1A HTR3A MAOA SLC6A4 TPH1
4
Show member pathways
11.78 HTR1A HTR1B HTR3A
5
Show member pathways
11.63 MAOA MAOB TPH1
6 11.59 DBH MAOA TPH1
7 11.56 HTR1A HTR1B HTR3A MAOA MAOB SLC6A4
8
Show member pathways
11.24 DBH MAOA SLC6A4
9
Show member pathways
11.07 MAOA MAOB
10
Show member pathways
11.01 COMT MAOA SLC6A4
11
Show member pathways
10.8 COMT DBH MAOA TPH1
12
Show member pathways
10.69 COMT MAOA MAOB
13 10.64 COMT MAOA MAOB
14
Show member pathways
10.59 MAOA MAOB
15 10.55 HTR1A HTR1B HTR3A MAOA SLC6A4 TPH1

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 platelet alpha granule GO:0031091 9.16 F5 SPARC
2 integral component of presynaptic membrane GO:0099056 9.13 HTR1B HTR3A SLC6A4
3 serotonergic synapse GO:0099154 8.62 HTR1B SLC6A4

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 9.83 COMT HTR1B MAOB SLC6A4
2 response to lipopolysaccharide GO:0032496 9.73 COMT MAOB SPARC
3 chemical synaptic transmission GO:0007268 9.71 DBH HTR1A HTR1B HTR3A
4 circadian rhythm GO:0007623 9.69 F7 SLC6A4 TPH1
5 G protein-coupled serotonin receptor signaling pathway GO:0098664 9.57 HTR1A HTR1B
6 response to ethanol GO:0045471 9.56 HTR1B HTR3A MAOB SPARC
7 response to pain GO:0048265 9.55 COMT DBH
8 bone remodeling GO:0046849 9.54 HTR1B TPH1
9 catecholamine metabolic process GO:0006584 9.49 COMT MAOA
10 regulation of behavior GO:0050795 9.48 HTR1A HTR1B
11 behavior GO:0007610 9.46 HTR1A HTR1B
12 serotonin receptor signaling pathway GO:0007210 9.43 HTR1A HTR3A
13 negative regulation of serotonin secretion GO:0014063 9.37 HTR1B MAOB
14 vasoconstriction GO:0042310 9.33 HTR1A HTR1B SLC6A4
15 adenylate cyclase-inhibiting serotonin receptor signaling pathway GO:0007198 9.32 HTR1A HTR1B
16 neurotransmitter catabolic process GO:0042135 9.13 COMT MAOA MAOB
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 neurotransmitter receptor activity GO:0030594 9.26 HTR1A HTR1B
2 G protein-coupled serotonin receptor activity GO:0004993 9.16 HTR1A HTR1B
3 primary amine oxidase activity GO:0008131 8.96 MAOA MAOB
4 serotonin binding GO:0051378 8.92 HTR1A HTR1B HTR3A SLC6A4

Sources for Brunner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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