MCID: BRN045
MIFTS: 13

Brunner Syndrome malady

Genetic diseases (common) category

Summaries for Brunner Syndrome

About this section


OMIM:45 Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation... (300615) more...

MalaCards based summary: Brunner Syndrome is related to ectrodactyly cardiopathy dysmorphism, and has symptoms including motor delayand autism. An important gene associated with Brunner Syndrome is MAOA (monoamine oxidase A).

Wikipedia:63 Brunner syndrome is hypothesized as a rare genetic disorder caused by a mutation in the MAOA gene. It is... more...

Aliases & Classifications for Brunner Syndrome

About this section

Brunner Syndrome, Aliases & Descriptions:

Name: Brunner Syndrome 45 10 20 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 300615

Related Diseases for Brunner Syndrome

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1ectrodactyly cardiopathy dysmorphism10.1

Symptoms for Brunner Syndrome

About this section

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 motor delay rare (5%) HP:0001270
2 autism HP:0000717

Drugs & Therapeutics for Brunner Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Brunner Syndrome

Search NIH Clinical Center for Brunner Syndrome

Genetic Tests for Brunner Syndrome

About this section

Genetic tests related to Brunner Syndrome:

id Genetic test Affiliating Genes
1 Brunner Syndrome20 MAOA

Anatomical Context for Brunner Syndrome

About this section

Animal Models for Brunner Syndrome or affiliated genes

About this section

Publications for Brunner Syndrome

About this section

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

About this section

Clinvar genetic disease variations for Brunner Syndrome:

6
id Gene Variation 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

About this section
Search GEO for disease gene expression data for Brunner Syndrome.

Pathways for genes affiliated with Brunner Syndrome

About this section

Compounds for genes affiliated with Brunner Syndrome

About this section

GO Terms for genes affiliated with Brunner Syndrome

About this section

Products for genes affiliated with Brunner Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Brunner Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet