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Monoamine oxidase A deficiency(BRNRS)

MedGen UID:
208683
Concept ID:
C0796275
Disease or Syndrome
Synonyms: BRNRS; BRUNNER SYNDROME
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Deficiency of monoamine oxidase A (718210003); Monoamine oxidase A deficiency (718210003); Brunner syndrome (718210003)
 
Gene (location): MAOA (Xp11.3)
OMIM®: 300615
Orphanet: ORPHA3057

Definition

Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation associated with MAOA deficiency (Brunner et al., 1993). [from GTR]

Additional descriptions

From OMIM
Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation associated with MAOA deficiency (Brunner et al., 1993).  http://www.omim.org/entry/300615
From GHR
Monoamine oxidase A deficiency is a rare disorder that occurs almost exclusively in males. It is characterized by mild intellectual disability and behavioral problems beginning in early childhood.Most boys with monoamine oxidase A deficiency are less able to control their impulses than their peers, causing aggressive or violent outbursts. In addition, affected individuals may have features of other behavioral disorders, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). These features can include obsessive behaviors, difficulty forming friendships, and problems focusing attention. Sleep problems, such as trouble falling asleep or night terrors, can also occur in monoamine oxidase A deficiency.Some people with monoamine oxidase A deficiency have episodes of skin flushing, sweating, headaches, or diarrhea. Similar episodes can occur in female family members of males with monoamine oxidase A deficiency, although females do not experience other signs or symptoms of the condition.In some cases, certain foods, such as cheese, appear to worsen symptoms of monoamine oxidase A deficiency.  https://ghr.nlm.nih.gov/condition/monoamine-oxidase-a-deficiency

Clinical features

Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
A verbal or physical act of hostility.
Autistic disorder of childhood onset
MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS5 (606053), which maps to chromosome 2q; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; and AUTS18 (615032), associated with mutation in the CHD8 gene (610528). (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.
Impulsivity
MedGen UID:
43850
Concept ID:
C0021125
Individual Behavior
An act performed without delay, reflection, voluntary direction or obvious control in response to a stimulus.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Violent behavior
MedGen UID:
98408
Concept ID:
C0424323
Finding
Any action that results in intimidation, harm, damage, or destruction of someone or something.
No development of motor milestones
MedGen UID:
892432
Concept ID:
C4020874
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMonoamine oxidase A deficiency
Follow this link to review classifications for Monoamine oxidase A deficiency in Orphanet.

Recent clinical studies

Etiology

Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D
J Inherit Metab Dis 2007 Oct;30(5):631-41. Epub 2007 Aug 10 doi: 10.1007/s10545-007-0661-4. PMID: 17694356

Diagnosis

Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D
J Inherit Metab Dis 2007 Oct;30(5):631-41. Epub 2007 Aug 10 doi: 10.1007/s10545-007-0661-4. PMID: 17694356
Abeling NG, van Gennip AH, van Cruchten AG, Overmars H, Brunner HG
J Neural Transm Suppl 1998;52:9-15. PMID: 9564603

Therapy

Abeling NG, van Gennip AH, van Cruchten AG, Overmars H, Brunner HG
J Neural Transm Suppl 1998;52:9-15. PMID: 9564603

Clinical prediction guides

Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D
J Inherit Metab Dis 2007 Oct;30(5):631-41. Epub 2007 Aug 10 doi: 10.1007/s10545-007-0661-4. PMID: 17694356
Abeling NG, van Gennip AH, van Cruchten AG, Overmars H, Brunner HG
J Neural Transm Suppl 1998;52:9-15. PMID: 9564603

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