Autism X-Linked 4 (AUTSX4)

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OMIM 56 300830 OMIM Phenotypic Series 56 PS209850 MeSH 43 D001321

MedGen 41 C0795888 SNOMED-CT via HPO 68 228156007 247578003 248004009 406506008 408856003 408857007 43614003 61372001 7461003 91138005 more UMLS 71 C0795888

OMIM : ⁵⁶ 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). 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. (300830)

MalaCards based summary : Autism X-Linked 4, is also known as autism, susceptibility to, x-linked 4, and has symptoms including tic, motor An important gene associated with Autism X-Linked 4 is PTCHD1 (Patched Domain Containing 1). Affiliated tissues include brain, breast and testes, and related phenotypes are autism and generalized hypotonia

UniProtKB/Swiss-Prot : ⁷³ Autism, X-linked 4: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.

Clinical features from OMIM:

300830

Search Clinical Trials , NIH Clinical Center for Autism X-Linked 4

Search GEO for disease gene expression data for Autism X-Linked 4.