Preferred Label : Autism, susceptibility to, X-linked 3;
Symbol : AUTSX3;
CISMeF acronym : AUTSX3;
Type : Phenotype, molecular basis known;
Description : 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, stereotypical,
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). For
a discussion of genetic heterogeneity of autism, see 209850.;
Inheritance : X-linked;
Molecular basis : Susceptibility conferred by mutation in the methyl-CpG binding protein-2 gene (MECP2,
300005.0011);
Laboratory abnormalities : Increased serum serotonin in 25%;
Prefixed ID : #300496;
Origin ID : 300496;
UMLS CUI : C1845336;
Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
