AUTISM

General Information (adopted from Orphanet):

Synonyms, Signs: AUTS1, INCLUDED
AUTISTIC DISORDER AUTISM, SUSCEPTIBILITY TO, 1, INCLUDED
ASD, INCLUDED
AUTISM SPECTRUM DISORDER, INCLUDED
Number of Symptoms 23
OrphanetNr:
OMIM Id: 209850
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Multifactorial
Sporadic
[Omim]
Age of onset: Childhood onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000732) Inflexible adherence to routines or rituals 11 / 7739
2
(HPO:0000758) Impaired use of nonverbal behaviors 11 / 7739
3
(HPO:0000721) Lack of spontaneous play 11 / 7739
4
(HPO:0000723) Restrictive behavior 11 / 7739
5
(HPO:0000733) Stereotypy 58 / 7739
6
(HPO:0002353) EEG abnormality frequent [HPO] 188 / 7739
7
(HPO:0000735) Impaired social interactions 20 / 7739
8
(HPO:0001250) Seizures frequent [HPO] 1245 / 7739
9
(HPO:0000717) Autism 108 / 7739
10
(HPO:0000750) Delayed speech and language development 197 / 7739
11
(HPO:0000728) Impaired ability to form peer relationships 8 / 7739
12
(HPO:0001249) Intellectual disability 1089 / 7739
13
(HPO:0003144) Increased serum serotonin frequent [HPO] 7 / 7739
14
(OMIM) Mental retardation in 75% 7 / 7739
15
(OMIM) Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures 11 / 7739
16
(HPO:0011463) Childhood onset 65 / 7739
17
(OMIM) Increased serum serotonin in 25% 7 / 7739
18
(OMIM) EEG abnormalities in 20-50% 6 / 7739
19
(OMIM) Seizures in 15-30% 7 / 7739
20
(HPO:0003745) Sporadic 131 / 7739
21
(OMIM) Stereotyped, repetitive behavior 11 / 7739
22
(OMIM) Impaired language development 6 / 7739
23
(HPO:0001426) Multifactorial inheritance 37 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for autism. In general, patients with autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial ...
Molecular genetics OMIM Gauthier et al. (2011) identified a heterozygous 1-bp deletion (2733delT) in the NRXN2 gene (600566) on chromosome 11q13 in a boy of European ancestry with autism spectrum disorder. The mutation resulted in premature termination. In vitro functional expression ...
Population genetics OMIM Smalley (1997) reported that autism has a population prevalence of approximately 4 to 5 in 10,000 with a male to female ratio of 4 to 1.

In a review of 20 studies on autism published between ...