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 52 11 48 24 70 12 39 68
Monoamine Oxidase a Deficiency 11 48 27
Antisocial Behavior 50 68
 
Susceptibility to Antisocial Behavior 70
Monoamine Oxidase a 12
Brnrs 70

Characteristics:

HPO:

64

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

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.

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 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 & 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 behavioral abnormality64 hallmark (90%) HP:0000708
2 cognitive impairment64 hallmark (90%) HP:0100543
3 motor delay64 rare (5%) HP:0001270
4 autism64 HP:0000717
5 aggressive behavior64 HP:0000718
6 intellectual disability, mild64 HP:0001256
7 violent behavior64 HP:0008760
8 impulsivity64 HP:0100710

UMLS symptoms related to Brunner Syndrome:


apathy, personality change

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

41
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

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 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 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:004213510.0COMT, MAOA
2circadian rhythmGO:00076239.9SLC6A4, TPH1
3memoryGO:00076139.6DBH, SLC6A4
4dopamine catabolic processGO:00424209.4COMT, DBH, MAOA
5response to painGO:00482659.2COMT, DBH

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
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