BRNRS
MCID: BRN045
MIFTS: 46

Brunner Syndrome (BRNRS) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Brunner Syndrome

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Aliases & Descriptions for Brunner Syndrome:

Name: Brunner Syndrome 52 11 48 24 25 70 12 39 13 68
Monoamine Oxidase a Deficiency 11 48 25
Deficiency of Monoamine Oxidase a 25 27
Antisocial Behavior 50 68
 
Susceptibility to Antisocial Behavior 70
X-Linked Monoamine Oxidase Deficiency 25
Monoamine Oxidase a 12
Brnrs 70

Characteristics:

HPO:

64
brunner syndrome:
Inheritance: x-linked recessive inheritance
Inheritance: x-linked inheritance

Classifications:



External Ids:

OMIM52 300615
Disease Ontology11 DOID:0060693
ICD1030 E70.8
MedGen37 C0796275

Summaries for Brunner Syndrome

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NIH Rare Diseases:48 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 autism, motor delay and aggressive behavior. An important gene associated with Brunner Syndrome is MAOA (Monoamine Oxidase A), and among its related pathways are Dopamine metabolism and noradrenaline and adrenaline degradation. Related mouse phenotypes are Decreased viability and integument.

UniProtKB/Swiss-Prot:70 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:52 Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation... (300615) more...

Disease Ontology:11 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

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

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1autism spectrum disorder29.8COMT, HTR7, SLC6A4
2personality disorder29.7COMT, HTR1A, HTR7, MAOA, SLC6A4
3schizophrenia28.6COMT, DBH, HTR1A, HTR1B, HTR3A, HTR7
4ectrodactyly cardiopathy dysmorphism10.8
5prostate cancer10.7
6cholestasis-lymphedema syndrome10.2COMT, MAOA
7nephronophthisis 1310.2COMT, SLC6A4
8lethal congenital contracture syndrome 110.2COMT, MAOA
9pyromania10.2MAOA, SLC6A4
10chondrodysplasia lethal recessive10.2COMT, TPH1
11rheumatoid arthritis10.2
12pancreatic ductal adenocarcinoma10.2
13respiratory syncytial virus infectious disease10.2
14strongyloidiasis10.2COMT, MAOA, SLC6A4
15intrahepatic gall duct cancer10.2COMT, MAOA, SLC6A4
16hereditary multiple exostoses10.1COMT, MAOA, SLC6A4
17basal cell carcinoma 310.1COMT, MAOA, TPH1
18ornithosis10.1HTR3A, MAOA, SLC6A4
19waardenburg's syndrome10.1HTR1A, SLC6A4
20adult brainstem astrocytoma10.1HTR1A, MAOA, SLC6A4
21interstitial emphysema10.1DBH, SLC6A4
22kidney pelvis papillary carcinoma10.1HTR1A, MAOA, SLC6A4
23hematocele of tunica vaginalis testis10.1HTR7, SLC6A4
24apperceptive agnosia10.1COMT, HTR1A, SLC6A4
25sudden infant death syndrome10.1
26panic disorder10.1
27prostatitis10.1
28pythiosis10.1DBH, MAOA
29primary angle-closure glaucoma10.0COMT, HTR1A, SLC6A4
30conjunctival pigmentation10.0HTR7, MAOA, SLC6A4
31neurogenic bladder10.0HTR7, MAOA, SLC6A4
32nephrogenic adenoma of the urethra10.0DBH, HTR3A, SLC6A4
33carotid stenosis10.0COMT, MAOA, SLC6A4, TPH1
34colorectal adenocarcinoma10.0COMT, DBH, MAOA, SLC6A4
35aortic valve disease 210.0COMT, DBH, HTR3A
36neuroblastoma10.0
37attention deficit-hyperactivity disorder10.0
38antisocial personality disorder10.0
39neuronitis10.0
40myopathy, distal, with early respiratory failure, autosomal dominant10.0COMT, HTR7, TPH1
41scleral staphyloma10.0HTR3A, HTR7
42mandibular cancer10.0HTR1A, HTR3A, SLC6A4
43chronic eosinophilic pneumonia10.0COMT, HTR1A, MAOA, SLC6A4
44bipolar disorder10.0
45lichen disease10.0COMT, HTR1A, MAOA, SLC6A4
46allergic hypersensitivity disease10.0HTR1A, HTR7
47dry eye syndrome9.9HTR1A, HTR7, SLC6A4
48hypoglycemic coma9.9HTR1A, MAOA, SLC6A4, TPH1
49vascular cancer9.9HTR1A, HTR7
50luxation of globe9.9HTR1A, HTR7, SLC6A4

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



Diseases related to brunner syndrome

Symptoms & Phenotypes for Brunner Syndrome

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Symptoms by clinical synopsis from OMIM:

300615

Clinical features from OMIM:

300615

Human phenotypes related to Brunner Syndrome:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 autism64 HP:0000717
2 motor delay64 HP:0001270
3 aggressive behavior64 HP:0000718
4 intellectual disability, mild64 HP:0001256
5 violent behavior64 HP:0008760
6 impulsivity64 HP:0100710
7 behavioral abnormality64 HP:0000708
8 cognitive impairment64 HP:0100543

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-110.0HTR1A, HTR3A, SLC6A4

MGI Mouse Phenotypes related to Brunner Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5DBH, HTR3A, HTR7, MYCBP2, SLC6A4, TPH1
2MP:00053858.3COMT, DBH, HTR1A, HTR1B, MAOA, SLC6A4
3MP:00053768.0COMT, DBH, HTR1A, HTR3A, HTR7, MAOA
4MP:00036317.0COMT, DBH, HTR1A, HTR3A, HTR7, MAOA
5MP:00053866.7COMT, DBH, HTR1A, HTR1B, HTR3A, HTR7

Drugs & Therapeutics for Brunner Syndrome

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bortezomibapproved, investigationalPhase 1807179324-69-7387447, 93860
Synonyms:
179324-69-7
AC1L8TUW
Bortezomib
Bortezomib (JAN/USAN/INN)
CHEBI:287372
CHEBI:41143
CHEMBL325041
CID387447
D03150
DB07475
DPBA
FT-0082488
I14-3268
LDP-341
LDP341
LPD 341
LPD-341
 
MLN341
MolPort-003-845-298
N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE
N-[(1R)-1-(DIHYDROXYBORYL)-3-methylbutyl]-N-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-Nalpha-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
NCI60_029010
NSC-681239
NSC681239
PROSCRIPT BORONIC ACID
PS-341
Pyz-Phe-boroLeu
S1013_Selleck
SBB071337
Velcade
Velcade (TN)
Velcade, MG-341, PS-341, Bortezomib
[(1R)-3-methyl-1-({(2S)-3-phenyl-2-[(pyrazin-2-ylcarbonyl)amino]propanoyl}amino)butyl]boronic acid
[(1R)-3-methyl-1-[[(2S)-3-phenyl-2-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
2
LenalidomideapprovedPhase 1736191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
D04687
 
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4
lenalidomide
3Immunosuppressive AgentsPhase 113086
4Anti-Infective AgentsPhase 122062
5Angiogenesis Modulating AgentsPhase 14185
6Anti-Bacterial AgentsPhase 111226
7Angiogenesis InhibitorsPhase 14257

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase I Study of Velcade and Lenalidomide in Patients With Relapsed AML and MDS After Allogeneic Stem Cell TransplantationRecruitingNCT02312102Phase 1
2Evaluation of Intestinal Brush Border Enzyme Function in Critically Ill PatientsUnknown statusNCT01585909
3Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)RecruitingNCT00214773
4A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)RecruitingNCT02294877

Search NIH Clinical Center for Brunner Syndrome


Cochrane evidence based reviews: brunner syndrome

Genetic Tests for Brunner Syndrome

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Genetic tests related to Brunner Syndrome:

id Genetic test Affiliating Genes
1 Monoamine Oxidase a Deficiency27
2 Brunner Syndrome24 MAOA

Anatomical Context for Brunner Syndrome

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Publications for Brunner Syndrome

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Articles related to Brunner Syndrome:

idTitleAuthorsYear
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

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Clinvar genetic disease variations for Brunner Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MAOANM_ 000240.3(MAOA): c.797G> T (p.Cys266Phe)SNVPathogenicrs587777457GRCh37Chr X, 43590942: 43590942
2MAOANM_ 000240.3(MAOA): c.749_ 750insT (p.Ser251Lysfs)insertionPathogenicrs796065311GRCh37Chr X, 43590591: 43590592
3MAOANM_ 000240.3(MAOA): c.133C> T (p.Arg45Trp)SNVPathogenicrs796065312GRCh38Chr X, 43683572: 43683572
4MAOANM_ 000240.3(MAOA): c.886C> T (p.Gln296Ter)SNVPathogenicrs72554632GRCh37Chr X, 43591031: 43591031

Expression for genes affiliated with Brunner Syndrome

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Search GEO for disease gene expression data for Brunner Syndrome.

Pathways for genes affiliated with Brunner Syndrome

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

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
19.9COMT, MAOA
2
Show member pathways
9.9COMT, MAOA
3
Show member pathways
9.9COMT, SLC6A4
4
Show member pathways
9.7DBH, TPH1
5
Show member pathways
9.6COMT, MAOA, SLC6A4
6
Show member pathways
9.5COMT, DBH, MAOA
7
Show member pathways
9.5DBH, MAOA, SLC6A4
89.4DBH, MAOA, TPH1
10
Show member pathways
9.1COMT, DBH, MAOA, TPH1
118.9COMT, DBH, HTR1A, TPH1
12
Show member pathways
8.7HTR1A, HTR1B, HTR3A
138.5HTR1A, HTR3A, MAOA, SLC6A4, TPH1
14
Show member pathways
8.5HTR1A, HTR1B, HTR7
157.1HTR1A, HTR1B, HTR3A, HTR7, MAOA, SLC6A4
167.1HTR1A, HTR1B, HTR3A, HTR7, MAOA, SLC6A4

GO Terms for genes affiliated with Brunner Syndrome

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1catecholamine metabolic processGO:000658410.5COMT, MAOA
2neurotransmitter catabolic processGO:004213510.4COMT, MAOA
3response to painGO:004826510.1COMT, DBH
4dopamine catabolic processGO:004242010.0COMT, DBH, MAOA
5bone remodelingGO:00468499.9HTR1B, TPH1
6serotonin receptor signaling pathwayGO:00072109.8HTR1A, HTR3A
7behaviorGO:00076109.8HTR1A, HTR1B
8circadian rhythmGO:00076239.7HTR7, SLC6A4, TPH1
9response to cocaineGO:00422209.6HTR1B, HTR3A
10regulation of behaviorGO:00507959.6HTR1A, HTR1B
11G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messengerGO:00071879.6HTR1B, HTR7
12chemical synaptic transmissionGO:00072689.2DBH, HTR1B, HTR7
13adenylate cyclase-inhibiting serotonin receptor signaling pathwayGO:00071989.2HTR1A, HTR1B, HTR7
14vasoconstrictionGO:00423108.2HTR1A, HTR1B, HTR7, SLC6A4

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

idNameGO IDScoreTop Affiliating Genes
1neurotransmitter receptor activityGO:00305948.8HTR1A, HTR1B, HTR7
2G-protein coupled serotonin receptor activityGO:00049938.5HTR1A, HTR1B, HTR3A, HTR7
3serotonin bindingGO:00513788.1HTR1A, HTR1B, HTR3A, HTR7

Sources for Brunner Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet