Brunner syndrome

Preferred Label : Brunner syndrome;

Symbol : BRNRS;

CISMeF acronym : BRNRS;

Type : Phenotype, molecular basis known;

Included titles and symbols : Antisocial behavior, susceptibility to;

Description : Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation resulting from MAOA deficiency (Brunner et al., 1993).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the monoamine oxidase A gene (MAOA, 309850.0001);

Laboratory abnormalities : Decreased monoamine oxidase A activity; Increased serotonin; Increased urinary levels of MAOA substrates (endogenous bioamines); Decreased serum levels of MAOA products; Low urinary 5-hydroxyindoleacetic acid (5-HIAA); Increased urinary metanephrines; Low urinary vanillylmandelic acid (VMA);

Prefixed ID : #300615;

Details

Origin ID

300615;

UMLS CUI

C0796275;

Automatic exact mappings (from CISMeF team)
- Brown's tendon sheath syndrome (disorder) [SNOMED CT concept]
- Brunner syndrome [MedDRA Preferred Term]
- Bruns' syndrome (disorder) [SNOMED CT concept]
- bruns' syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Brunner Syndrome [DO Concept]
- Deficiency of monoamine oxidase A (disorder) [SNOMED CT concept]
- Monoamine oxidase A deficiency [ORDO Disease]
- Monoamine oxidase-A deficiency [ICD-11 More detail]
- brunner syndrome [MeSH concept]
- brunner syndrome [MeSH Supplementary Concept]
DO Cross reference
- Brunner Syndrome [DO Concept]
Genes related to phenotype
- Monoamine oxidase a [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autism [HPO term]
- Diarrhea [HPO term]
- Flushing [HPO term]
- Headache [HPO term]
- Impulsivity [HPO term]
- Intellectual disability [HPO term]
- Kinetic tremor [HPO term]
- Low frustration tolerance [HPO term]
- Motor delay [HPO term]
- Self-injurious behavior [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Monoamine oxidase A deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brunner Syndrome [DO Concept]
- Brunner syndrome [MedDRA Preferred Term]
- Deficiency of monoamine oxidase A (disorder) [SNOMED CT concept]
- Monoamine oxidase A deficiency [ORDO Disease]
- Monoamine oxidase-A deficiency [ICD-11 More detail]
- brunner syndrome [MeSH Supplementary Concept]
- brunner syndrome [MeSH concept]

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