MCID: BRN045
MIFTS: 43

Brunner Syndrome

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Brunner Syndrome

MalaCards integrated aliases for Brunner Syndrome:

Name: Brunner Syndrome 53 12 72 49 24 71 36 13 41 14 69
Monoamine Oxidase a Deficiency 12 72 49 24 28
Antisocial Behavior 53 51 69
Brnrs 53 71
X-Linked Monoamine Oxidase Deficiency 24
Susceptibility to Antisocial Behavior 71
Deficiency of Monoamine Oxidase a 24
Monoamine Oxidase a 13

Characteristics:

OMIM:

53
Inheritance:
x-linked recessive

Miscellaneous:
two unrelated families have been reported (last curated june 2014)
phenotype may be exacerbated by maltreatment in childhood


HPO:

31
brunner syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Brunner Syndrome

NIH Rare Diseases : 49 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. Last updated: 3/30/2016

MalaCards based summary : Brunner Syndrome, also known as monoamine oxidase a deficiency, is related to conduct disorder and antisocial personality disorder, and has symptoms including intellectual disability, self-injurious behavior and behavioral abnormality. 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 Decreased viability and Decreased viability

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 : 24 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 : 53 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 : 71 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.

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 30.9 COMT DBH MAOA SLC6A4 TPH1
2 antisocial personality disorder 30.2 COMT MAOA SLC6A4
3 substance dependence 29.8 HTR1B MAOA SLC6A4
4 alexithymia 29.6 COMT HTR1A SLC6A4
5 cocaine abuse 29.1 DBH HTR3A SLC6A4
6 personality disorder 28.7 COMT HTR1A HTR1B MAOA SLC6A4 TPH1
7 substance abuse 28.6 COMT DBH HTR1B MAOA SLC6A4
8 attention deficit-hyperactivity disorder 27.7 COMT DBH HTR1A HTR1B MAOA SLC6A4
9 alcohol dependence 26.4 COMT DBH HTR1A HTR1B HTR3A HTR7
10 schizophrenia 26.3 COMT DBH HTR1A HTR1B HTR3A HTR7
11 ectrodactyly cardiopathy dysmorphism 10.9
12 prostate cancer 10.8
13 phobia, specific 10.4 COMT MAOA
14 pathological gambling 10.4 MAOA SLC6A4
15 rheumatoid arthritis 10.3
16 pancreatic ductal adenocarcinoma 10.3
17 respiratory syncytial virus infectious disease 10.3
18 dystonia 1, torsion, autosomal dominant 10.3 COMT MAOA
19 chronic pulmonary heart disease 10.3 HTR7 SLC6A4
20 childhood-onset schizophrenia 10.2 COMT TPH1
21 paranoid schizophrenia 10.2 COMT MAOA SLC6A4
22 post-traumatic stress disorder 10.2 COMT MAOA SLC6A4
23 atypical depressive disorder 10.2 HTR7 MAOA SLC6A4
24 dysthymic disorder 10.1 HTR7 MAOA SLC6A4
25 amphetamine abuse 10.1 HTR1B HTR7
26 periodic limb movement disorder 10.1 HTR1A SLC6A4
27 functional gastric disease 10.1 HTR3A HTR7
28 specific developmental disorder 10.1 COMT HTR7 SLC6A4
29 social phobia 10.1 HTR3A MAOA SLC6A4
30 opiate dependence 10.0 SLC6A4 TPH1
31 functional diarrhea 10.0 HTR3A HTR7
32 somatoform disorder 10.0 COMT TPH1
33 tobacco addiction 10.0 COMT MAOA TPH1
34 drug-induced mental disorder 10.0 HTR1A HTR7
35 drug psychosis 10.0 HTR1A HTR7
36 migraine without aura 10.0 HTR1A SLC6A4
37 agoraphobia 10.0 HTR1A MAOA SLC6A4
38 kleine-levin hibernation syndrome 10.0 COMT HTR7 TPH1
39 bipolar i disorder 9.9 COMT HTR1A SLC6A4
40 pure autonomic failure 9.9 DBH MAOA
41 psychosexual disorder 9.9 HTR1A HTR7 SLC6A4
42 intermittent explosive disorder 9.9 HTR1A HTR7 SLC6A4
43 autism spectrum disorder 9.9 COMT HTR7 MAOA SLC6A4
44 phobic disorder 9.8 COMT HTR1A MAOA 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:

53
Neurologic Central Nervous System:
intellectual disability, mild to severe
delayed motor development (in some patients)

Laboratory Abnormalities:
decreased monoamine oxidase a activity
increased urinary levels of maoa substrates (endogenous bioamines)
decreased serum levels of maoa products

Neurologic Behavioral Psychiatric Manifestations:
autism
auto- and hetero-aggressive behavior
angry outbursts
easily frustrated
antisocial behavior


Clinical features from OMIM:

300615

Human phenotypes related to Brunner Syndrome:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 self-injurious behavior 31 HP:0100716
3 behavioral abnormality 31 hallmark (90%) HP:0000708
4 cognitive impairment 31 hallmark (90%) HP:0100543
5 autism 31 HP:0000717
6 aggressive behavior 31 HP:0000718
7 motor delay 31 occasional (7.5%) HP:0001270
8 low frustration tolerance 31 HP:0000744

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 9.1 HTR1A HTR3A SLC6A4
2 Decreased viability GR00381-A-3 9.1 HTR1A HTR3A SLC6A4

MGI Mouse Phenotypes related to Brunner Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 COMT DBH HTR1A HTR1B HTR3A HTR7
2 cardiovascular system MP:0005385 9.8 COMT DBH HTR1A HTR1B MAOA SLC6A4
3 homeostasis/metabolism MP:0005376 9.76 COMT DBH HTR1A HTR3A HTR7 MAOA
4 integument MP:0010771 9.43 DBH HTR3A HTR7 MYCBP2 SLC6A4 TPH1
5 nervous system MP:0003631 9.23 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 28 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
# 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) NT expansion Pathogenic,risk factor GRCh37 Chromosome X, 43514349: 43514378
3 MAOA NM_000240.3(MAOA): c.797G> T (p.Cys266Phe) single nucleotide variant Pathogenic rs587777457 GRCh37 Chromosome X, 43590942: 43590942
4 MAOA NM_000240.3(MAOA): c.749_750insT (p.Ser251Lysfs) insertion Pathogenic rs796065311 GRCh37 Chromosome X, 43590591: 43590592
5 MAOA NM_000240.3(MAOA): c.133C> T (p.Arg45Trp) single nucleotide variant Pathogenic rs796065312 GRCh38 Chromosome X, 43683572: 43683572
6 MAOA NM_000240.3(MAOA): c.730G> A (p.Val244Ile) single nucleotide variant Likely pathogenic rs1135401773 GRCh37 Chromosome X, 43590572: 43590572

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:

36
# 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 12.29 COMT DBH HTR1A TPH1
3 11.87 HTR1A HTR3A MAOA SLC6A4 TPH1
4
Show member pathways
11.79 HTR1A HTR1B HTR3A
5
Show member pathways
11.71 HTR1A HTR1B HTR7
6 11.57 DBH MAOA TPH1
7 11.55 HTR1A HTR1B HTR3A HTR7 MAOA SLC6A4
8
Show member pathways
11.46 COMT DBH MAOA
9
Show member pathways
11.18 DBH MAOA SLC6A4
10
Show member pathways
11.15 DBH TPH1
11
Show member pathways
10.91 COMT MAOA SLC6A4
12
Show member pathways
10.8 COMT DBH MAOA TPH1
13
Show member pathways
10.69 COMT MAOA
14 10.64 COMT MAOA
15 10.61 HTR1A HTR1B HTR3A HTR7 MAOA SLC6A4

GO Terms for Brunner Syndrome

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.56 DBH HTR1B HTR3A HTR7
2 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.54 HTR1B HTR7
3 circadian rhythm GO:0007623 9.54 HTR7 SLC6A4 TPH1
4 response to cocaine GO:0042220 9.52 HTR1B HTR3A
5 G-protein coupled serotonin receptor signaling pathway GO:0098664 9.51 HTR1A HTR1B
6 response to pain GO:0048265 9.49 COMT DBH
7 bone remodeling GO:0046849 9.48 HTR1B TPH1
8 behavior GO:0007610 9.46 HTR1A HTR1B
9 neurotransmitter catabolic process GO:0042135 9.43 COMT MAOA
10 catecholamine metabolic process GO:0006584 9.4 COMT MAOA
11 dopamine catabolic process GO:0042420 9.33 COMT DBH MAOA
12 regulation of behavior GO:0050795 9.32 HTR1A HTR1B
13 adenylate cyclase-inhibiting serotonin receptor signaling pathway GO:0007198 9.13 HTR1A HTR1B HTR7
14 vasoconstriction GO:0042310 8.92 HTR1A HTR1B HTR7 SLC6A4

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 9.33 HTR1A HTR1B HTR7
2 G-protein coupled serotonin receptor activity GO:0004993 9.13 HTR1A HTR1B HTR7
3 serotonin binding GO:0051378 8.92 HTR1A HTR1B HTR3A HTR7

Sources for Brunner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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