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AUTSX4
MCID: ATS268
MIFTS: 19
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Autism X-Linked 4 (AUTSX4)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Autism X-Linked 4:
Name: Autism X-Linked 4
58
Characteristics:OMIM:58
Miscellaneous:
onset in infancy variable severity nonspecific subtle dysmorphic facial features may be present most patients have contiguous gene deletion syndrome involving xp22
Inheritance:
x-linked recessive HPO:33
autism x-linked 4:
Onset and clinical course variable expressivity infantile onset Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases |
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OMIM
:
58
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). Related phenotypes are autism and generalized hypotonia UniProtKB/Swiss-Prot : 76 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. |
Diseases in the Autism X-Linked 2 family:
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Human phenotypes related to Autism X-Linked 4:33 (show all 7)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:300830UMLS symptoms related to Autism X-Linked 4:tic, motor |
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Genes related to Autism X-Linked 4 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Autism X-Linked 4:6 (show all 18)
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Search
GEO
for disease gene expression data for Autism X-Linked 4.
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