MCID: BRN045
MIFTS: 42

Brunner Syndrome 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 51 11 47 24 69 12 38 67
Monoamine Oxidase a Deficiency 11 47 26
Antisocial Behavior 49 67
 
Susceptibility to Antisocial Behavior 69
Monoamine Oxidase a 12
Brnrs 69

Characteristics:

HPO:

63

Classifications:



External Ids:

OMIM51 300615
Disease Ontology11 DOID:0060693
ICD1029 E70.8
MedGen36 C0796275

Summaries for Brunner Syndrome

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UniProtKB/Swiss-Prot:69 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.

MalaCards based summary: Brunner Syndrome, also known as monoamine oxidase a deficiency, is related to sudden infant death syndrome and schizophrenia, and has symptoms including behavioral abnormality, cognitive impairment and motor delay. An important gene associated with Brunner Syndrome is MAOA (Monoamine Oxidase A), and among its related pathways are Dopamine metabolism and Neurotransmitter Clearance In The Synaptic Cleft. Related mouse phenotypes are cardiovascular system and behavior/neurological.

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.

OMIM:51 Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation... (300615) more...

Wikipedia:70 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 104)
idRelated DiseaseScoreTop Affiliating Genes
1sudden infant death syndrome29.2HTR3A, MAOA, SLC6A4, TPH1
2schizophrenia27.6COMT, DBH, HTR3A, MAOA, SLC6A4, TPH1
3ectrodactyly cardiopathy dysmorphism10.8
4prostate cancer10.7
5ring chromosome 14 syndrome10.4COMT, MAOA
6intrahepatic gall duct cancer10.3MAOA, SLC6A4
7chagas disease10.3MAOA, SLC6A4
8nonencapsulated sclerosing carcinoma10.3MAOA, SLC6A4
9pyromania10.3MAOA, SLC6A4
10neurodegeneration with optic atrophy, childhood onset10.3COMT, SLC6A4
11malignant peripheral nerve sheath tumor10.3MAOA, SLC6A4
12intermittent explosive disorder10.3MAOA, SLC6A4
13lymphadenitis10.2MAOA, SLC6A4
14anosognosia10.2COMT, SLC6A4
15ulcerative colitis10.2COMT, SLC6A4
16rheumatoid arthritis10.2
17pancreatic ductal adenocarcinoma10.2
18respiratory syncytial virus infectious disease10.2
19phaeohyphomycosis10.2COMT, SLC6A4
20dental fluorosis10.2HTR3A, SLC6A4
21thyroid cancer, childhood10.1COMT, TPH1
22personality disorder10.1
23glutathionuria10.1COMT, TPH1
24lymphosarcoma10.1COMT, SLC6A4
25panic disorder10.1
26prostatitis10.1
27viral gastritis10.1HTR3A, SLC6A4
28measles10.1COMT, TPH1
29histiocytoid hemangioma10.0COMT, TPH1
30neuroblastoma10.0
31attention deficit-hyperactivity disorder10.0
32antisocial personality disorder10.0
33neuronitis10.0
34tongue disease10.0COMT, MAOA, SLC6A4
35meckel's diverticulum10.0COMT, MAOA, SLC6A4
36vogt-koyanagi-harada disease10.0COMT, MAOA, SLC6A4
37avoidant personality disorder10.0COMT, MAOA, SLC6A4
38purpura10.0COMT, MAOA, SLC6A4
39bipolar disorder10.0
40pervasive developmental disorder10.0COMT, SLC6A4
41herpetic gastritis9.9SLC6A4, TPH1
42sexual disorder9.9COMT, MAOA, SLC6A4
43vulvar melanoma9.9HTR3A, SLC6A4
44idiopathic neonatal atrial flutter9.9HTR3A, MAOA, SLC6A4
45alcohol dependence9.9
46autism spectrum disorder9.9
47social phobia9.9
48mood disorder9.9
49rabies9.9HTR3A, MAOA, SLC6A4
50laryngeal adductor paralysis9.9SLC6A4, TPH1

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



Diseases related to brunner syndrome

Symptoms 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:

 63 (show all 8)
id Description HPO Frequency HPO Source Accession
1 behavioral abnormality63 hallmark (90%) HP:0000708
2 cognitive impairment63 hallmark (90%) HP:0100543
3 motor delay63 rare (5%) HP:0001270
4 autism63 HP:0000717
5 aggressive behavior63 HP:0000718
6 intellectual disability, mild63 HP:0001256
7 violent behavior63 HP:0008760
8 impulsivity63 HP:0100710

UMLS symptoms related to Brunner Syndrome:


apathy, personality change

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 1794179324-69-7387447, 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 1718191732-72-6216326
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 112770
4Anti-Infective AgentsPhase 121402
5Angiogenesis Modulating AgentsPhase 14072
6Anti-Bacterial AgentsPhase 110884
7Angiogenesis InhibitorsPhase 14143

Interventional clinical trials:

idNameStatusNCT IDPhase
1Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)RecruitingNCT00214773Phase 4
2Phase I Study of Velcade and Lenalidomide in Patients With Relapsed AML and MDS After Allogeneic Stem Cell TransplantationRecruitingNCT02312102Phase 1

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 Deficiency26
2 Brunner Syndrome24 MAOA

Anatomical Context for Brunner Syndrome

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Animal Models for Brunner Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Brunner Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.6COMT, DBH, MAOA, SLC6A4, TPH1
2MP:00053868.1COMT, DBH, HTR3A, MAOA, SLC6A4, TPH1
3MP:00053767.3COMT, DBH, HTR3A, MAOA, SLC6A4, TPH1

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 12)
idSuper pathwaysScoreTop Affiliating Genes
19.7COMT, MAOA
2
Show member pathways
9.7COMT, MAOA
3
Show member pathways
9.7COMT, MAOA
4
Show member pathways
9.6COMT, SLC6A4
5
Show member pathways
9.0DBH, TPH1
6
Show member pathways
8.9COMT, DBH, MAOA
7
Show member pathways
8.8DBH, MAOA, SLC6A4
88.6COMT, DBH, TPH1
98.5HTR3A, MAOA, SLC6A4, TPH1
108.5HTR3A, MAOA, SLC6A4, TPH1
11
Show member pathways
8.2COMT, DBH, MAOA, TPH1
12
Show member pathways
8.1COMT, HTR3A, MAOA, SLC6A4, TPH1

GO Terms for genes affiliated with Brunner Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1neurotransmitter catabolic processGO:00421359.9COMT, MAOA
2response to painGO:00482659.3COMT, DBH
3memoryGO:00076139.2DBH, SLC6A4
4circadian rhythmGO:00076239.1SLC6A4, TPH1
5dopamine catabolic processGO:00424208.8COMT, DBH, MAOA

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

idNameGO IDScoreTop Affiliating Genes
1serotonin bindingGO:00513789.6HTR3A, MAOA

Sources for Brunner Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet