PDD
MCID: ATY003
MIFTS: 35

Atypical Autism (PDD)

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Atypical Autism

MalaCards integrated aliases for Atypical Autism:

Name: Atypical Autism 12 58 15 70 32
Pdd 12

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060042
ICD10 32 F84.1
ICD10 via Orphanet 33 F84.1
UMLS via Orphanet 71 C0338986
Orphanet 58 ORPHA199627
UMLS 70 C0338986

Summaries for Atypical Autism

Disease Ontology : 12 An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.

MalaCards based summary : Atypical Autism, also known as pdd, is related to childhood disintegrative disease and attention deficit-hyperactivity disorder. An important gene associated with Atypical Autism is PDP1 (Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neuroscience. Affiliated tissues include liver, placenta and cervix, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 73 A pervasive developmental disorder not otherwise specified (Including atypical autism) (PDD-NOS) is one... more...

Related Diseases for Atypical Autism

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 childhood disintegrative disease 30.3 SHANK2 OXT NRXN1 NLGN4X NLGN3 MECP2
2 attention deficit-hyperactivity disorder 29.8 SNCA OXT NLGN4X MECP2 FMR1 BCHE
3 anxiety 29.4 SNCA OXTR OXT FMR1
4 prader-willi syndrome 29.3 OXT MECP2 GABRB3 FMR1
5 fragile x syndrome 28.2 SHANK2 SHANK1 OXT NRXN1 NLGN4X NLGN3
6 autism 28.1 SHANK2 SHANK1 OXTR OXT NRXN1 NLGN4X
7 asperger syndrome 28.0 SHANK2 SHANK1 OXTR OXT NRXN1 NLGN4X
8 pervasive developmental disorder 27.7 SHANK2 SHANK1 OXTR OXT NRXN1 NLGN4X
9 autism spectrum disorder 27.2 SNCA SHANK2 SHANK1 OXTR OXT NRXN1
10 pseudodiastrophic dysplasia 11.4
11 camurati-engelmann disease 11.3
12 autism x-linked 1 11.0
13 autism x-linked 2 11.0
14 autism x-linked 3 11.0
15 autism x-linked 4 11.0
16 autism x-linked 5 11.0
17 autism x-linked 6 11.0
18 autism 8 11.0
19 autism 3 11.0
20 autism 7 11.0
21 autism 11 11.0
22 autism 12 11.0
23 autism 13 11.0
24 autism 9 11.0
25 autism 10 11.0
26 autism 15 11.0
27 autism 16 11.0
28 autism 17 11.0
29 autism 18 11.0
30 parkinsonism 10.8
31 dysthymic disorder 10.8
32 capgras syndrome 10.3 SNCA BCHE
33 valproate embryopathy 10.3 NLGN3 MECP2
34 ideomotor apraxia 10.3 SNCA BCHE
35 dementia 10.2
36 akinetic mutism 10.2 SNCA BCHE
37 mental retardation, autosomal dominant 26 10.2
38 rare pervasive developmental disorder 10.2
39 bladder cancer 10.2
40 chromosomal duplication syndrome 10.1 SNCA MECP2 FMR1
41 schizophrenia 15 10.1 SHANK2 SHANK1
42 phonagnosia 10.1 OXT BCHE
43 gene duplication disease 10.1 MECP2 FMR1
44 x-linked monogenic disease 10.1 NLGN3 MECP2 FMR1
45 placenta praevia 10.1 OXTR OXT
46 parkinson disease, late-onset 10.1
47 prosopagnosia 10.0 OXTR OXT
48 inhibited female orgasm 10.0 OXTR OXT
49 bestiality 10.0 OXTR OXT
50 tic disorder 10.0 NRXN1 NLGN4X NLGN3

Graphical network of the top 20 diseases related to Atypical Autism:



Diseases related to Atypical Autism

Symptoms & Phenotypes for Atypical Autism

MGI Mouse Phenotypes related to Atypical Autism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 CNTN6 FMR1 GABRB3 MECP2 NLGN3 NRXN1
2 nervous system MP:0003631 9.73 CLPX CNTN6 FMR1 GABRB3 MECP2 NLGN3
3 reproductive system MP:0005389 9.32 BCHE FMR1 GABRB3 MECP2 NLGN3 OXT

Drugs & Therapeutics for Atypical Autism

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Evaluation of Integrative Practices Units Infant and Child Care for Unit Children With Typical or Atypical Autism (AUTISM) Completed NCT02154828

Search NIH Clinical Center for Atypical Autism

Genetic Tests for Atypical Autism

Anatomical Context for Atypical Autism

MalaCards organs/tissues related to Atypical Autism:

40
Liver, Placenta, Cervix

Publications for Atypical Autism

Articles related to Atypical Autism:

(show top 50) (show all 116)
# Title Authors PMID Year
1
Special educational support in children and adolescents with Autism Spectrum Disorder in Germany: Results from a parent survey. 61
33690110 2021
2
Establishment of an induced pluripotent stem (iPS) cell line (SDUKIi006-A) from a 21-year old male patient diagnosed with atypical autism disorder. 61
33524673 2021
3
[Leisure Opportunities for Autistic Children and Adolescents: How Satisfied are Parents and what do they Think their Children Would Like?] 61
33641644 2021
4
Clinical Relevance of Methylenetetrahydrofolate Reductase Genetic Testing in Autism: A Case Report of Successful Clinical Outcome. 61
33577628 2021
5
[From pervasive developmental disorder in ICD-10 to Autism Spectrum Disorder in ICD-11]. 61
33269947 2020
6
Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome. 61
32382505 2020
7
Neuropsychopathology of Autism Spectrum Disorder: Complex Interplay of Genetic, Epigenetic, and Environmental Factors. 61
32006358 2020
8
A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders? 61
31678916 2019
9
[The diagnostics of autism spectrum disorder in children, adolescents and adults: Overview of the key questions and main results of the first part of the German AWMF-S3 - clinical guideline]. 61
30326807 2019
10
Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 4 Years - Early Autism and Developmental Disabilities Monitoring Network, Seven Sites, United States, 2010, 2012, and 2014. 61
30973853 2019
11
Complementary and alternative medicine use in adults with autism spectrum disorder in Germany: results from a multi-center survey. 61
30709386 2019
12
Pathways to a diagnosis of autism spectrum disorder in Germany: a survey of parents. 61
30949235 2019
13
Gait in children with infantile/atypical autism: Age-dependent decrease in gait variability and associations with motor skills. 61
30482681 2019
14
Adaptive trajectories and early risk factors in the autism spectrum: A 15-year prospective study. 61
30270526 2018
15
Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012. 61
30439868 2018
16
A case of nephrogenic syndrome of inappropriate antidiuresis caused by carbamazepine. 61
29282644 2018
17
Psychosis in a Child with Atypical Autism: A Case Report and a Brief Review of the Association of Psychosis and Autism. 61
29707425 2018
18
Serum Cytokine and Growth Factor Levels in Children with Autism Spectrum Disorder. 61
29705814 2018
19
Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014. 61
29701730 2018
20
Effectiveness of clozapine for the treatment of psychosis and disruptive behaviour in a child with Atypical Autism: A case report and a brief review of the evidence. 61
28704788 2017
21
Assessment of serum trace elements and electrolytes in children with childhood and atypical autism. 61
27707611 2017
22
Increased risk for an atypical autism diagnosis following Thimerosal-containing vaccine exposure in the United States: A prospective longitudinal case-control study in the Vaccine Safety Datalink. 61
28595786 2017
23
Arteriovenous Malformation in a Youth with Atypical Autism Symptoms. 61
28989994 2017
24
Cytokine Profile in Autism Spectrum Disorders in Children. 61
27730473 2017
25
Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage. 61
29263838 2017
26
Kynurenine Pathway in Autism Spectrum Disorders in Children. 61
29694960 2017
27
Experiences of diagnosing autism spectrum disorder: A survey of professionals in the United Kingdom. 61
26681687 2016
28
Clinical trial of modulatory effects of oxytocin treatment on higher-order social cognition in autism spectrum disorder: a randomized, placebo-controlled, double-blind and crossover trial. 61
27655235 2016
29
SYMPTOM PRESENTATIONS AND CLASSIFICATION OF AUTISM SPECTRUM DISORDER IN EARLY CHILDHOOD: APPLICATION TO THE DIAGNOSTIC CLASSIFICATION OF MENTAL HEALTH AND DEVELOPMENTAL DISORDERS OF INFANCY AND EARLY CHILDHOOD (DC:0-5). 61
27556740 2016
30
Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years--Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012. 61
27031587 2016
31
Psychiatric manifestations of congenital rubella syndrome: A case report and review of literature. 61
27606025 2016
32
[Schooling of patients exhibiting Autism Spectrum Disorders without mental retardation]. 61
26358485 2015
33
Incontinence in children with autism spectrum disorder. 61
26052001 2015
34
Psychiatric comorbidity and cognitive profile in children with narcolepsy with or without association to the H1N1 influenza vaccination. 61
25325473 2015
35
[On the problem of psychological (psychometric) diagnosis of intelligence in children with developmental disorders]. 61
26356276 2015
36
Time trends over 16 years in incidence-rates of autism spectrum disorders across the lifespan based on nationwide Danish register data. 61
24554161 2014
37
Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010. 61
24670961 2014
38
Autism and developmental profiles in preschoolers: stability and change over time. 61
24237479 2014
39
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability. 61
25606055 2014
40
Autism in community pre-schoolers: developmental profiles. 61
23816626 2013
41
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. 61
23032108 2013
42
Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. 61
23613074 2013
43
Delineating the profile of autism spectrum disorder characteristics in Cornelia de Lange and Fragile X syndromes. 61
23301903 2013
44
The frequency and risk factors of allergy and asthma in children with autism--case-control study. 61
24741916 2013
45
Autism in the Faroe Islands: diagnostic stability from childhood to early adult life. 61
23476144 2013
46
Diseases of the gastrointestinal tract in individuals diagnosed as children with atypical autism: a Danish register study based on hospital diagnoses. 61
22987890 2013
47
Autism and autistic spectrum disorders in the context of new DSM-V classification, and clinical and epidemiological data. 61
22650115 2012
48
Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. 61
22456193 2012
49
Children with Usher syndrome: mental and behavioral disorders. 61
22449032 2012
50
[Autism spectrum disorders in children and adolescents]. 61
22937604 2012

Variations for Atypical Autism

Expression for Atypical Autism

Search GEO for disease gene expression data for Atypical Autism.

Pathways for Atypical Autism

Pathways related to Atypical Autism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 SHANK2 SHANK1 NRXN1 NLGN4X NLGN3 GABRB3
2 11.99 SNCA SHANK2 MECP2 FMR1
3
Show member pathways
11.14 SHANK2 SHANK1 NRXN1 NLGN4X NLGN3

GO Terms for Atypical Autism

Cellular components related to Atypical Autism according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.25 SNCA SHANK2 SHANK1 OXTR OR5B3 OR5B17
2 cell junction GO:0030054 9.81 SNCA SHANK2 SHANK1 NRXN1 NLGN4X NLGN3
3 postsynapse GO:0098794 9.67 NLGN3 MECP2 FMR1
4 presynapse GO:0098793 9.65 SNCA NRXN1 NLGN4X NLGN3 FMR1
5 excitatory synapse GO:0060076 9.5 SHANK1 NLGN4X NLGN3
6 ionotropic glutamate receptor complex GO:0008328 9.48 SHANK2 SHANK1
7 spanning component of membrane GO:0089717 9.46 NLGN4X NLGN3
8 postsynaptic membrane GO:0045211 9.43 SHANK2 SHANK1 NLGN4X GABRB3 FMR1 DDN
9 asymmetric, glutamatergic, excitatory synapse GO:0098985 9.4 NLGN4X NLGN3
10 symmetric, GABA-ergic, inhibitory synapse GO:0098983 9.37 NLGN4X NLGN3
11 synapse GO:0045202 9.32 SNCA SHANK2 SHANK1 NRXN1 NLGN4X NLGN3

Biological processes related to Atypical Autism according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.88 SNCA NRXN1 NLGN4X NLGN3 MECP2 GABRB3
2 memory GO:0007613 9.81 OXTR OXT MECP2
3 synapse assembly GO:0007416 9.81 SHANK2 NRXN1 NLGN3 MECP2
4 synapse organization GO:0050808 9.8 SNCA NLGN4X NLGN3
5 positive regulation of synapse assembly GO:0051965 9.8 OXTR OXT NRXN1 NLGN3
6 response to cocaine GO:0042220 9.77 SNCA OXTR OXT
7 synaptic vesicle endocytosis GO:0048488 9.74 SNCA NLGN4X NLGN3
8 long-term synaptic potentiation GO:0060291 9.73 SNCA SHANK2 SHANK1 MECP2
9 positive regulation of dendritic spine development GO:0060999 9.72 SHANK2 SHANK1 FMR1
10 adult behavior GO:0030534 9.72 SHANK2 SHANK1 NRXN1 NLGN4X NLGN3
11 regulation of AMPA receptor activity GO:2000311 9.71 SHANK2 SHANK1 NRXN1
12 neuron cell-cell adhesion GO:0007158 9.7 NRXN1 NLGN4X NLGN3
13 brain morphogenesis GO:0048854 9.68 SHANK2 SHANK1
14 positive regulation of blood pressure GO:0045777 9.67 OXTR OXT
15 regulation of neurotransmitter secretion GO:0046928 9.67 SNCA FMR1
16 dendritic spine morphogenesis GO:0060997 9.67 SHANK2 SHANK1
17 positive regulation of excitatory postsynaptic potential GO:2000463 9.67 SHANK2 SHANK1 NRXN1 NLGN3
18 positive regulation of synaptic transmission GO:0050806 9.66 SNCA OXT
19 behavior GO:0007610 9.66 SHANK2 SHANK1
20 presynapse assembly GO:0099054 9.65 NLGN4X NLGN3
21 protein localization to synapse GO:0035418 9.65 SHANK1 NRXN1
22 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.65 NLGN3 MECP2
23 presynaptic membrane assembly GO:0097105 9.65 NRXN1 NLGN4X NLGN3
24 positive regulation of synaptic transmission, glutamatergic GO:0051968 9.65 SHANK2 SHANK1 OXTR NRXN1 NLGN3
25 maternal behavior GO:0042711 9.64 OXTR OXT
26 sleep GO:0030431 9.64 OXTR OXT
27 positive regulation of uterine smooth muscle contraction GO:0070474 9.63 OXTR OXT
28 postsynaptic membrane assembly GO:0097104 9.63 NRXN1 NLGN4X NLGN3
29 learning GO:0007612 9.63 SHANK2 NRXN1 NLGN4X NLGN3 MECP2 BCHE
30 negative regulation of gastric acid secretion GO:0060455 9.62 OXTR OXT
31 positive regulation of penile erection GO:0060406 9.61 OXTR OXT
32 synaptic growth at neuromuscular junction GO:0051124 9.61 SHANK2 SHANK1
33 sperm ejaculation GO:0042713 9.6 OXTR OXT
34 postsynaptic density assembly GO:0097107 9.58 SHANK2 SHANK1
35 positive regulation of norepinephrine secretion GO:0010701 9.58 OXTR OXT
36 regulation of digestive system process GO:0044058 9.56 OXTR OXT
37 vocalization behavior GO:0071625 9.35 SHANK2 SHANK1 NRXN1 NLGN4X NLGN3
38 social behavior GO:0035176 9.23 SHANK2 SHANK1 OXTR OXT NRXN1 NLGN4X

Molecular functions related to Atypical Autism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein complex binding GO:0070840 9.37 SNCA FMR1
2 cell adhesion molecule binding GO:0050839 9.33 NRXN1 NLGN4X NLGN3
3 neurexin family protein binding GO:0042043 9.32 NLGN4X NLGN3
4 siRNA binding GO:0035197 9.26 MECP2 FMR1
5 scaffold protein binding GO:0097110 9.13 SHANK1 NLGN4X NLGN3
6 GKAP/Homer scaffold activity GO:0030160 8.62 SHANK2 SHANK1

Sources for Atypical Autism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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