MCID: ATS370
MIFTS: 21

Autism 3

Categories: Mental diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Autism 3

MalaCards integrated aliases for Autism 3:

Name: Autism 3 57
Autism, Susceptibility to, 3 57 13
Autism Susceptibility 3 57
Auts3 57

Characteristics:

OMIM:

57
Inheritance:
isolated cases
multifactorial

Miscellaneous:
genetic heterogeneity (see )
onset by 3 years of age
male to female ratio 4:1
occurs in 2-5 per 10,000 individuals
associated with tuberous sclerosis
associated with untreated phenylketonuria
associated with fragile x syndrome


HPO:

32
autism 3:
Onset and clinical course childhood onset
Inheritance heterogeneous sporadic multifactorial inheritance


Classifications:



Summaries for Autism 3

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. See also chromosome 13q14 deletion syndrome (613884) in which retinoblastoma and mental retardation are features. (608049)

MalaCards based summary : Autism 3, also known as autism, susceptibility to, 3, is related to autism. An important gene associated with Autism 3 is AUTS3 (Autism, Susceptibility To, 3). The drug Carbon monoxide has been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are autism and lack of spontaneous play

Related Diseases for Autism 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autism 11.2

Symptoms & Phenotypes for Autism 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
impaired social interactions
impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
impaired ability to form peer relationships
impaired language development
lack of spontaneous play
more
Laboratory Abnormalities:
increased serum serotonin in 25%

Neurologic Central Nervous System:
mental retardation in 75%
seizures in 15-30%
eeg abnormalities in 20-50%


Clinical features from OMIM:

608049

Human phenotypes related to Autism 3:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 autism 32 HP:0000717
2 lack of spontaneous play 32 HP:0000721
3 restrictive behavior 32 HP:0000723
4 impaired ability to form peer relationships 32 HP:0000728
5 inflexible adherence to routines or rituals 32 HP:0000732
6 stereotypy 32 HP:0000733
7 delayed speech and language development 32 HP:0000750
8 impaired use of nonverbal behaviors 32 HP:0000758
9 intellectual disability 32 HP:0001249
10 seizures 32 frequent (33%) HP:0001250
11 eeg abnormality 32 frequent (33%) HP:0002353
12 ketonuria 32 HP:0002919
13 increased serum serotonin 32 frequent (33%) HP:0003144

Drugs & Therapeutics for Autism 3

Drugs for Autism 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbon monoxide Approved, Investigational Phase 1 630-08-0 281

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Clinical Trial of the Clinical Effects of Hyperbaric Oxygen Therapy in Thai Autistic Children Completed NCT00670891 Phase 1

Search NIH Clinical Center for Autism 3

Genetic Tests for Autism 3

Anatomical Context for Autism 3

MalaCards organs/tissues related to Autism 3:

41
Eye

Publications for Autism 3

Variations for Autism 3

Expression for Autism 3

Search GEO for disease gene expression data for Autism 3.

Pathways for Autism 3

GO Terms for Autism 3

Sources for Autism 3

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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