AUTS5
MCID: ATS368
MIFTS: 17

Autism 5 (AUTS5)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autism 5

MalaCards integrated aliases for Autism 5:

Name: Autism 5 57
Autism, Susceptibility to, 5 57 73
Autism Susceptibility 5 57 13
Phrase Speech Delay, Autism-Related 57
Autism-Related Speech Delay 57
Auts5 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant



Classifications:



External Ids:

OMIM 57 606053
MedGen 42 C1853755
UMLS 73 C1853755

Summaries for Autism 5

OMIM : 57 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). For a discussion of genetic heterogeneity of autism, see 209850. (606053)

MalaCards based summary : Autism 5, also known as autism, susceptibility to, 5, is related to autism. An important gene associated with Autism 5 is AUTS5 (Autism, Susceptibility To, 5). Related phenotype is autism.

Related Diseases for Autism 5

Diseases in the Autism family:

Autism 5 Autism 8
Autism 3 Autism 6
Autism 7 Autism 11
Autism 12 Autism 13
Autism 9 Autism 10
Autism 15 Autism 16
Autism 17 Autism 18
Autism 19 Autism Spectrum Disorder

Diseases related to Autism 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autism 11.7

Symptoms & Phenotypes for Autism 5

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
autism

Neurologic Central Nervous System:
delayed onset of phrase speech (> 36 months)


Clinical features from OMIM:

606053

Human phenotypes related to Autism 5:

32
# Description HPO Frequency HPO Source Accession
1 autism 32 HP:0000717

Drugs & Therapeutics for Autism 5

Search Clinical Trials , NIH Clinical Center for Autism 5

Genetic Tests for Autism 5

Anatomical Context for Autism 5

Publications for Autism 5

Variations for Autism 5

Expression for Autism 5

Search GEO for disease gene expression data for Autism 5.

Pathways for Autism 5

GO Terms for Autism 5

Sources for Autism 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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