MCID: BRN045
MIFTS: 17

Brunner Syndrome malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories
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Summaries for Brunner Syndrome

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Wikipedia:65 Brunner syndrome is hypothesized as a rare genetic disorder caused by a mutation in the MAOA gene. It is... more...

MalaCards based summary: Brunner Syndrome, also known as monoamine oxidase a deficiency, is related to ectrodactyly cardiopathy dysmorphism, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, psychic/behavioural troubles and x-linked recessive inheritance. An important gene associated with Brunner Syndrome is MAOA (monoamine oxidase A).

Description from OMIM:46 300615

Aliases & Classifications for Brunner Syndrome

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Sources:
20GeneTests, 46OMIM, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
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Brunner Syndrome, Aliases & Descriptions:

Name: Brunner Syndrome 20 46 62
 
Monoamine Oxidase a Deficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
monoamine oxidase a deficiency:
Inheritance: X-linked recessive; Age of onset: Childhood


External Ids:

OMIM46 300615
ICD10 via Orphanet26 E70.8

Related Diseases for Brunner Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1ectrodactyly cardiopathy dysmorphism10.1

Symptoms for Brunner Syndrome

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Symptoms by clinical synopsis from OMIM:

300615

Clinical features from OMIM:

300615

Symptoms:

48
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/behavioural troubles
  • x-linked recessive inheritance

HPO human phenotypes related to Brunner Syndrome:

(show all 9)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 cognitive impairment hallmark (90%) HP:0100543
3 motor delay rare (5%) HP:0001270
4 autism HP:0000717
5 aggressive behavior HP:0000718
6 intellectual disability, mild HP:0001256
7 x-linked inheritance HP:0001417
8 violent behavior HP:0008760
9 impulsivity HP:0100710

Drugs & Therapeutics for Brunner Syndrome

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Drug clinical trials:

Search ClinicalTrials for Brunner Syndrome

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 Syndrome20 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
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1MAOANM_000240.3(MAOA): c.797G> T (p.Cys266Phe)single nucleotide variantPathogenicGRCh37Chr X, 43590942: 43590942
2MAOANM_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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Expression patterns in normal tissues for genes affiliated with Brunner Syndrome

Search GEO for disease gene expression data for Brunner Syndrome.

Pathways for genes affiliated with Brunner Syndrome

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Compounds for genes affiliated with Brunner Syndrome

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GO Terms for genes affiliated with Brunner Syndrome

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Products for genes affiliated with Brunner Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Brunner Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet