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Items: 5

1.

Risperidone

A benzisoxazole derivative with antipsychotic property. Risperidone selectively antagonizes serotonin (5-HT) effects via cortical 5-HT2 receptor, and, to a lesser extent, competes with dopamine at the limbic dopamine D2 receptor. The antagonism leads to decreased psychotic effects, such as hallucinations and delusions. In addition, risperidone has low to moderate affinity for histamine H1, 5-HT1A, 5-HT1C, and 5-HT1D receptors, while it has weak affinity for dopamine D1 and haloperidol-sensitive sigma site receptors. [from NCI]

MedGen UID:
34414
Concept ID:
C0073393
Organic Chemical; Pharmacologic Substance
2.

Autistic disorder of childhood onset

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. [from GTR]

MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
3.

Risperidone response

Risperidone is the most commonly prescribed antipsychotic medication in the US. It is an atypical (second generation) antipsychotic used in the treatment of schizophrenia, bipolar disorder, severe dementia, and irritability associated with autism. Risperidone is metabolized to the active metabolite 9-hydroxyrisperidone by the enzyme CYP2D6 and to a lesser extent by CYP3A4. Individuals who carry two inactive copies of the CYP2D6 gene are termed “poor metabolizers” and may have a decreased capacity to metabolize risperidone. These individuals may be at a higher risk of adverse effects because of increased exposure to plasma risperidone, compared to normal metabolizers, who carry two active copies of CYP2D6. Individuals who are CYP2D6 ultrarapid metabolizers (who carry more than two functional copies of CYP2D6) may have a decreased response to therapy, resulting from lower steady-state risperidone concentrations. The FDA-approved drug label states that analysis of clinical studies involving a modest number of poor metabolizers (n=70) does not suggest that poor and extensive (normal) metabolizers have different rates of adverse effects. In addition, the Dutch Pharmacogenetics Working Group (DPWG) recently changed its dosing recommendations to “no action is needed” for CYP2D6 poor metabolizers taking risperidone. [from GTR]

MedGen UID:
450481
Concept ID:
CN078009
Sign or Symptom
4.

Irritability

Feelings of annoyance, impatience, and anger. [from NCI]

MedGen UID:
397841
Concept ID:
C2700617
Mental Process
5.

Feeling irritable

Abnormal or excessive excitability with easily triggered anger, annoyance, or impatience. [from MeSH]

MedGen UID:
5898
Concept ID:
C0022107
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