BRNRS
MCID: BRN045
MIFTS: 46

Brunner Syndrome (BRNRS) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Brunner Syndrome

Aliases & Descriptions for Brunner Syndrome:

Name: Brunner Syndrome 54 12 50 24 25 66 13 42 14 69
Monoamine Oxidase a Deficiency 12 50 25
Deficiency of Monoamine Oxidase a 25 29
Antisocial Behavior 52 69
X-Linked Monoamine Oxidase Deficiency 25
Susceptibility to Antisocial Behavior 66
Monoamine Oxidase a 13
Brnrs 66

Characteristics:

HPO:

32

Classifications:



External Ids:

OMIM 54 300615
Disease Ontology 12 DOID:0060693
ICD10 33 E70.8
MedGen 40 C0796275

Summaries for Brunner Syndrome

NIH Rare Diseases : 50 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 autism spectrum disorder and personality disorder, and has symptoms including behavioral abnormality, cognitive impairment and intellectual disability, mild. An important gene associated with Brunner Syndrome is MAOA (Monoamine Oxidase A), and among its related pathways/superpathways are Neuroscience and Circadian rythm related genes. The drugs Bortezomib and Lenalidomide have been mentioned in the context of this disorder. Related phenotypes are Decreased viability and behavior/neurological

UniProtKB/Swiss-Prot : 66 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.

OMIM : 54 Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation... (300615) more...

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 : 71 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 112)
id Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 29.8 COMT HTR7 SLC6A4
2 personality disorder 29.7 COMT HTR1A HTR7 MAOA SLC6A4
3 schizophrenia 28.6 COMT DBH HTR1A HTR1B HTR3A HTR7
4 ectrodactyly cardiopathy dysmorphism 10.8
5 prostate cancer 10.7
6 cholestasis-lymphedema syndrome 10.2 COMT MAOA
7 nephronophthisis 13 10.2 COMT SLC6A4
8 lethal congenital contracture syndrome 1 10.2 COMT MAOA
9 pyromania 10.2 MAOA SLC6A4
10 chondrodysplasia lethal recessive 10.2 COMT TPH1
11 respiratory syncytial virus infectious disease 10.2
12 rheumatoid arthritis 10.2
13 pancreatic ductal adenocarcinoma 10.2
14 strongyloidiasis 10.2 COMT MAOA SLC6A4
15 intrahepatic gall duct cancer 10.2 COMT MAOA SLC6A4
16 hereditary multiple exostoses 10.1 COMT MAOA SLC6A4
17 basal cell carcinoma 3 10.1 COMT MAOA TPH1
18 ornithosis 10.1 HTR3A MAOA SLC6A4
19 waardenburg's syndrome 10.1 HTR1A SLC6A4
20 adult brainstem astrocytoma 10.1 HTR1A MAOA SLC6A4
21 interstitial emphysema 10.1 DBH SLC6A4
22 kidney pelvis papillary carcinoma 10.1 HTR1A MAOA SLC6A4
23 hematocele of tunica vaginalis testis 10.1 HTR7 SLC6A4
24 apperceptive agnosia 10.1 COMT HTR1A SLC6A4
25 sudden infant death syndrome 10.1
26 panic disorder 10.1
27 prostatitis 10.1
28 pythiosis 10.1 DBH MAOA
29 primary angle-closure glaucoma 10.0 COMT HTR1A SLC6A4
30 conjunctival pigmentation 10.0 HTR7 MAOA SLC6A4
31 neurogenic bladder 10.0 HTR7 MAOA SLC6A4
32 nephrogenic adenoma of the urethra 10.0 DBH HTR3A SLC6A4
33 carotid stenosis 10.0 COMT MAOA SLC6A4 TPH1
34 colorectal adenocarcinoma 10.0 COMT DBH MAOA SLC6A4
35 aortic valve disease 2 10.0 COMT DBH HTR3A
36 antisocial personality disorder 10.0
37 neuronitis 10.0
38 attention deficit-hyperactivity disorder 10.0
39 neuroblastoma 10.0
40 myopathy, distal, with early respiratory failure, autosomal dominant 10.0 COMT HTR7 TPH1
41 scleral staphyloma 10.0 HTR3A HTR7
42 mandibular cancer 10.0 HTR1A HTR3A SLC6A4
43 chronic eosinophilic pneumonia 10.0 COMT HTR1A MAOA SLC6A4
44 bipolar disorder 10.0
45 lichen disease 10.0 COMT HTR1A MAOA SLC6A4
46 allergic hypersensitivity disease 10.0 HTR1A HTR7
47 dry eye syndrome 9.9 HTR1A HTR7 SLC6A4
48 hypoglycemic coma 9.9 HTR1A MAOA SLC6A4 TPH1
49 vascular cancer 9.9 HTR1A HTR7
50 luxation of globe 9.9 HTR1A HTR7 SLC6A4

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



Diseases related to Brunner Syndrome

Symptoms & Phenotypes for Brunner Syndrome

Symptoms by clinical synopsis from OMIM:

300615

Clinical features from OMIM:

300615

Human phenotypes related to Brunner Syndrome:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 behavioral abnormality 32 HP:0000708
2 cognitive impairment 32 HP:0100543
3 intellectual disability, mild 32 HP:0001256
4 autism 32 HP:0000717
5 aggressive behavior 32 HP:0000718
6 motor delay 32 HP:0001270
7 impulsivity 32 HP:0100710
8 violent behavior 32 HP:0008760

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

26
id 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:

44
id 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

Drugs for Brunner Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
2
Lenalidomide Approved Phase 1 191732-72-6 216326
3 Angiogenesis Inhibitors Phase 1
4 Angiogenesis Modulating Agents Phase 1
5 Anti-Bacterial Agents Phase 1
6 Anti-Infective Agents Phase 1
7 Immunosuppressive Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase I Study of Velcade and Lenalidomide in Patients With Relapsed AML and MDS After Allogeneic Stem Cell Transplantation Recruiting NCT02312102 Phase 1
2 Evaluation of Intestinal Brush Border Enzyme Function in Critically Ill Patients Unknown status NCT01585909
3 Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP) Recruiting NCT00214773
4 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877

Search NIH Clinical Center for Brunner Syndrome

Cochrane evidence based reviews: brunner syndrome

Genetic Tests for Brunner Syndrome

Genetic tests related to Brunner Syndrome:

id Genetic test Affiliating Genes
1 Monoamine Oxidase a Deficiency 29
2 Brunner Syndrome 24 MAOA

Anatomical Context for Brunner Syndrome

Publications for Brunner Syndrome

Articles related to Brunner Syndrome:

id 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
id 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.133C> T (p.Arg45Trp) single nucleotide variant Pathogenic rs796065312 GRCh38 Chromosome X, 43683572: 43683572
5 MAOA NM_000240.3(MAOA): c.749_750insT (p.Ser251Lysfs) insertion Pathogenic rs796065311 GRCh37 Chromosome X, 43590591: 43590592

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 GeneCards Suite gene sharing:

(show all 16)
id Super pathways Score Top Affiliating Genes
1 12.27 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
11.24 COMT SLC6A4
10
Show member pathways
11.18 DBH MAOA SLC6A4
11
Show member pathways
11.15 DBH TPH1
12
Show member pathways
10.93 COMT MAOA SLC6A4
13
Show member pathways
10.8 COMT DBH MAOA TPH1
14 10.66 COMT MAOA
15
Show member pathways
10.64 COMT MAOA
16 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)
id Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.69 DBH HTR1B 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 response to pain GO:0048265 9.49 COMT DBH
6 bone remodeling GO:0046849 9.48 HTR1B TPH1
7 behavior GO:0007610 9.46 HTR1A HTR1B
8 neurotransmitter catabolic process GO:0042135 9.43 COMT MAOA
9 catecholamine metabolic process GO:0006584 9.4 COMT MAOA
10 dopamine catabolic process GO:0042420 9.33 COMT DBH MAOA
11 regulation of behavior GO:0050795 9.32 HTR1A HTR1B
12 serotonin receptor signaling pathway GO:0007210 9.26 HTR1A HTR3A
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:

id 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 9.26 HTR1A HTR1B HTR3A 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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