MCID: BRN045
MIFTS: 19

Brunner Syndrome malady

Category: Genetic diseases (common)

Aliases & Classifications for Brunner Syndrome

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Aliases & Descriptions for Brunner Syndrome:

Name: Brunner Syndrome 49 11 22 67 65
 
Bruns 67

Classifications:



External Ids:

OMIM49 300615
MedGen34 C0796275
MeSH36 D008607
UMLS65 C0796275

Summaries for Brunner Syndrome

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UniProtKB/Swiss-Prot:67 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 bruns, is related to monoamine oxidase a deficiency and ectrodactyly cardiopathy dysmorphism, and has symptoms including cognitive impairment, behavioral abnormality and motor delay. An important gene associated with Brunner Syndrome is MAOA (Monoamine Oxidase A).

OMIM:49 Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation... (300615) more...

Wikipedia:68 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:

idRelated DiseaseScoreTop Affiliating Genes
1monoamine oxidase a deficiency11.0
2ectrodactyly cardiopathy dysmorphism10.9
3cysticercosis10.1
4aromatic l-amino acid decarboxylase deficiency10.0
5arachnoiditis9.9
6cerebellopontine angle tumor9.9
7arachnoid cysts9.9

Graphical network of 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

HPO human phenotypes related to Brunner Syndrome:

id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 behavioral abnormality hallmark (90%) HP:0000708
3 motor delay rare (5%) HP:0001270
4 autism HP:0000717

Drugs & Therapeutics for Brunner Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)RecruitingNCT00214773Phase 4
2Evaluation of Intestinal Brush Border Enzyme Function in Critically Ill PatientsRecruitingNCT01585909

Search NIH Clinical Center for Brunner Syndrome

Genetic Tests for Brunner Syndrome

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Genetic tests related to Brunner Syndrome:

id Genetic test Affiliating Genes
1 Brunner Syndrome22 MAOA

Anatomical Context for Brunner Syndrome

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Animal Models for Brunner Syndrome or affiliated genes

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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)single nucleotide variantPathogenicrs587777457GRCh37Chr 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)single nucleotide variantPathogenicrs796065312GRCh38Chr X, 43683572: 43683572
4MAOANM_000240.3(MAOA): c.886C> T (p.Gln296Ter)single nucleotide variantPathogenicrs72554632GRCh37Chr 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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GO Terms for genes affiliated with Brunner Syndrome

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Sources for Brunner Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet