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MCID: PRV006
MIFTS: 58

Pervasive Developmental Disorder

Categories: Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pervasive Developmental Disorder

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MalaCards integrated aliases for Pervasive Developmental Disorder:

Name: Pervasive Developmental Disorder 12 55 15
Pervasive Developmental Disorders 54 33
Pervasive Development Disorder 12 72
Autism Spectrum Disorders 72
Autistic Behavior 72

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Mental diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:0060040
ICD9CM 35 299.80
ICD10 33 F84 F84.9
UMLS 72 C0154451 C0524528 C0856975 more
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Summaries for Pervasive Developmental Disorder

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NINDS : 54 The diagnostic category of pervasive developmental disorders (PDD) refers to a group of disorders characterized by delays in the development of socialization and communication skills. Parents may note symptoms as early as infancy, although the typical age of onset is before 3 years of age. Symptoms may include problems with using and understanding language; difficulty relating to people, objects, and events; unusual play with toys and other objects; difficulty with changes in routine or familiar surroundings, and repetitive body movements or behavior patterns. Autism (a developmental brain disorder characterized by impaired social interaction and communication skills, and a limited range of activities and interests) is the most characteristic and best studied PDD. Other types of PDD include Asperger's Syndrome, Childhood Disintegrative Disorder, and Rett's Syndrome. Children with PDD vary widely in abilities, intelligence, and behaviors. Some children do not speak at all, others speak in limited phrases or conversations, and some have relatively normal language development. Repetitive play skills and limited social skills are generally evident. Unusual responses to sensory information, such as loud noises and lights, are also common.

MalaCards based summary : Pervasive Developmental Disorder, also known as pervasive developmental disorders, is related to autism spectrum disorder and asperger syndrome, and has symptoms including photophobia, restlessness and personality changes. An important gene associated with Pervasive Developmental Disorder is NLGN3 (Neuroligin 3), and among its related pathways/superpathways are Neuroscience and Transmission across Chemical Synapses. The drugs Valproic acid and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are Decreased viability after Maraba virus infection and Decreased viability after Maraba virus infection

Disease Ontology : 12 A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.

Wikipedia : 75 The diagnostic category pervasive developmental disorders (PDD), as opposed to specific developmental... more...

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Related Diseases for Pervasive Developmental Disorder

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Diseases in the Pervasive Developmental Disorder family:

Rare Pervasive Developmental Disorder

Diseases related to Pervasive Developmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 168)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 34.2 SLC6A4 SHANK2 RPL10 PTCHD1 NLGN4X NLGN3
2 asperger syndrome 33.9 SLC6A4 NLGN4X NLGN3 MECP2 GABRB3
3 autism 33.5 TMLHE TCF20 SLC9A9 SLC6A4 SHANK2 SCT
4 specific developmental disorder 32.7 SLC6A4 MECP2 FOXP2
5 attention deficit-hyperactivity disorder 32.2 SLC9A9 SLC6A4 NLGN4X MECP2 CNTNAP2
6 speech and communication disorders 31.4 MECP2 FOXP2 CNTNAP2
7 fragile x syndrome 31.3 SLC6A4 MECP2 EIF4E
8 rare pervasive developmental disorder 12.7
9 childhood disintegrative disease 11.8
10 autism 8 11.6
11 autism 6 11.6
12 autism 9 11.6
13 landau-kleffner syndrome 11.5
14 autism x-linked 1 11.4
15 autism x-linked 2 11.4
16 autism x-linked 3 11.4
17 autism x-linked 4 11.4
18 autism x-linked 5 11.4
19 autism x-linked 6 11.4
20 autism 15 11.4
21 autism 16 11.4
22 autism 17 11.4
23 autism 18 11.4
24 autism 3 11.3
25 autism 7 11.3
26 autism 11 11.3
27 autism 12 11.3
28 potocki-lupski syndrome 11.3
29 autism 13 11.3
30 autism 10 11.3
31 rett syndrome 11.2
32 chromosome 16p11.2 deletion syndrome, 220-kb 11.2
33 autism 19 11.2
34 mental retardation, autosomal recessive 41 11.2
35 atypical autism 11.1
36 x-linked non-specific intellectual disability 10.8 PTCHD1 NLGN4X MECP2
37 mental retardation, autosomal dominant 26 10.5
38 tic disorder 10.5
39 anxiety 10.4
40 alacrima, achalasia, and mental retardation syndrome 10.4
41 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.4
42 gilles de la tourette syndrome 10.4
43 articulation disorder 10.4 FOXP2 CNTNAP2
44 seizure disorder 10.3
45 visual epilepsy 10.3
46 epilepsy 10.3
47 cerebral palsy 10.3
48 hyperlexia 10.2
49 major affective disorder 8 10.2
50 major affective disorder 9 10.2

Graphical network of the top 20 diseases related to Pervasive Developmental Disorder:



Diseases related to Pervasive Developmental Disorder
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Symptoms & Phenotypes for Pervasive Developmental Disorder

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UMLS symptoms related to Pervasive Developmental Disorder:


photophobia, restlessness, personality changes, pseudobulbar behavioral symptoms, sleep disturbances

GenomeRNAi Phenotypes related to Pervasive Developmental Disorder according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Maraba virus infection GR00252-A-1 9.74 CHD8 FOXP2 GABRB3 PTCHD1 SCT SHANK2
2 Decreased viability after Maraba virus infection GR00252-A-2 9.74 CHD8 FOXP2 GABRB3 PTCHD1 SCT SHANK2
3 Decreased viability after Maraba virus infection GR00252-A-3 9.74 FOXP2

MGI Mouse Phenotypes related to Pervasive Developmental Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 CHD8 CNTNAP2 CTNND2 GABRB3 KCND2 MECP2
2 growth/size/body region MP:0005378 9.7 CHD8 CNTNAP2 GABRB3 MECP2 MEFV NLGN3
3 nervous system MP:0003631 9.36 CHD8 CNTNAP2 CTNND2 GABRB3 KCND2 MECP2
Sources

Drugs & Therapeutics for Pervasive Developmental Disorder

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Drugs for Pervasive Developmental Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 285)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
2
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
3
Lithium carbonate Approved Phase 4 554-13-2
4
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
5
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
6
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
7
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
8
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
9
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
10
Norepinephrine Approved Phase 4 51-41-2 439260
11
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
12
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
13
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
14
Buspirone Approved, Investigational Phase 4 36505-84-7 2477
15
Choline Approved, Nutraceutical Phase 4 62-49-7 305
16
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
17 Antibodies Phase 4
18 Immunoglobulins Phase 4
19 gamma-Globulins Phase 4
20 Immunoglobulins, Intravenous Phase 4
21 Rho(D) Immune Globulin Phase 4
22 Vasodilator Agents Phase 4
23 Respiratory System Agents Phase 4
24 Antidepressive Agents Phase 4
25 Neurotransmitter Agents Phase 4
26 Central Nervous System Depressants Phase 4
27 Tranquilizing Agents Phase 4
28 Serotonin Antagonists Phase 4
29 Serotonin 5-HT2 Receptor Antagonists Phase 4
30 Adrenergic Agents Phase 4
31 Psychotropic Drugs Phase 4
32 Neurotransmitter Uptake Inhibitors Phase 4
33 Dopamine Agents Phase 4
34 Serotonin 5-HT1 Receptor Agonists Phase 4
35 Antipsychotic Agents Phase 4
36 Dopamine Antagonists Phase 4
37 Dopamine agonists Phase 4
38 Dopamine D2 Receptor Antagonists Phase 4
39 Antihypertensive Agents Phase 4
40 Adrenergic alpha-2 Receptor Agonists Phase 4
41 Adrenergic alpha-Agonists Phase 4
42 Adrenergic Agonists Phase 4
43 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
44 cysteine Phase 4
45 Central Nervous System Stimulants Phase 4
46 Dopamine Uptake Inhibitors Phase 4
47 Anti-Bacterial Agents Phase 4
48 Antibiotics, Antitubercular Phase 4
49 Atomoxetine Hydrochloride Phase 4
50 N-monoacetylcystine Phase 4

Interventional clinical trials:

(show top 50) (show all 416)
# Name Status NCT ID Phase Drugs
1 Oxytocin-based Pharmacotherapy for Autism Spectrum Disorders: Investigating the Neural and Behavioral Effects of a Promising Intervention Approach Unknown status NCT02940574 Phase 4 Syntocinon (Oxytocin)
2 A Phase IV, Single-site, Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4 Gammaplex 5%
3 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Unknown status NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
4 Assessment and Follow Up Study of Children and Adolescent With Bipolar Disorder Unknown status NCT01000402 Phase 4 Psychopharmacotherapy
5 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
6 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
7 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
8 The Role of Omega-3 Fatty Acids in the Management of Singaporean Children With Autism Spectrum Disorders Completed NCT01695200 Phase 4
9 Methylphenidate Study in Young Children With Developmental Disorders Completed NCT00517504 Phase 4 Methylphenidate
10 Pilot Study of the Effect of Aripiprazole Treatment in Autism Spectrum Disorders on Functional Magnetic Resonance Imaging (fMRI) Activation Patterns and Symptoms Completed NCT01028820 Phase 4 Aripiprazole
11 Open-Label Treatment Trial to Assess the Short-Term Tolerability, Safety, and Efficacy of Methylphenidate Hydrochloride Extended-Release Liquid Formulation in High-Functioning Autism Spectrum Disorder Adults With Attention-Deficit/Hyperactivity Disorder Completed NCT02096952 Phase 4 Methylphenidate extended-release liquid formulation
12 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
13 Multisite Study: Acquisition of Social Skills in Children With Autism Using Video Modeling in Parental Training Completed NCT02235467 Phase 4
14 Open Label Trial of Aripiprazole in the Treatment of CD in Adolescents Completed NCT00250705 Phase 4 Aripiprazole
15 A Pilot Study of Cranial Electrotherapy Stimulation[CES] for Generalized Anxiety Disorder Completed NCT00539357 Phase 4
16 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
17 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine
18 Language-based Learning Skills and ADHD: Impact of Treatment With Sustained-release Guanfacine Completed NCT01146002 Phase 4 Guanfacine (sustained release)
19 Improving Driving in Young People With Autism Spectrum Disorders Recruiting NCT03538431 Phase 4 Buspirone
20 An Open-Label Clinical Trial Conducted Via Telepsychiatry of Complementary and Alternative Treatments (Omega-3 Fatty Acids and Inositol vs. N-acetylcysteine) for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) Recruiting NCT03757585 Phase 4 Open-label Treatment with Omega-3 Fatty Acids + Inositol;Open-label Treatment with N-acetylcysteine
21 Controlled-Release Melatonin (Melatonin CR)for the Treatment of Impaired Sleep Maintenance (ISM) in 4-8 Year Old Children With Autism Spectrum Disorders (ASD). Terminated NCT01033565 Phase 4 Natrol
22 Group Psychoeducational Program for Mothers of Preschool Children With High Functional Pervasive Developmental Disorders: a Randomized Controlled Trial Unknown status NCT01243905 Phase 2, Phase 3
23 Effect of Probiotics on Central Nervous System Functions in Humans Unknown status NCT02793193 Phase 2, Phase 3 Antibiotic
24 Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders Completed NCT01302964 Phase 3 Placebo;Mirtazapine
25 Pharmacotherapy of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
26 A Randomized, Double-Blind, Placebo-Controlled, Cross-Over Pilot Study of Riluzole for Drug-Refractory Irritability in Autism Spectrum Disorders Completed NCT02081027 Phase 2, Phase 3 Riluzole;placebo
27 A Randomized, Placebo-Controlled Trial of D-Cycloserine for the Enhancement of Social Skills Training in Pervasive Developmental Disorders Completed NCT01086475 Phase 3 D-cycloserine;Placebo
28 Efficacy And Safety Of Risperidone In The Treatment Of Children With Autistic Disorder And Other Pervasive Developmental Disorders: A Canadian, Multicenter, Double-Blind, Placebo-Controlled Study Completed NCT00261508 Phase 3 risperidone
29 Phase III Study of Autism Co-Morbid for Attention Deficit Hyperactivity Disorder Completed NCT00541346 Phase 3 Methylphenidate Transdermal System
30 2/3 Treatment of Anxiety in Autism Spectrum Disorder Completed NCT02028247 Phase 3
31 Phase II/III Clinical Trial of NPC-15 - Verification of the Efficacy for Sleep Disorders of Children With Autism Spectrum Disorders - Completed NCT02757066 Phase 2, Phase 3 NPC-15 Granules Lower Dose;NPC-15 Granules Higher Dose;NPC-15 Placebo Granule
32 Cognitive-Behavioral Treatment for Anxiety Disorders in Children With Autism Spectrum Disorders Completed NCT01178385 Phase 2, Phase 3
33 Double Blind Placebo Controlled Trial of Methyl B12 on Behavioral and Metabolic Measures in Children With Autism Completed NCT01039792 Phase 2, Phase 3 Methyl B12
34 Pharmacogenomics in Autism Treatment Completed NCT00584701 Phase 2, Phase 3 Risperidone
35 Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) Completed NCT01825798 Phase 3 Metformin;Placebo
36 Supporting the Well Being of Families of Young Children With Autism Spectrum Completed NCT01021384 Phase 3
37 A Double-blind, Placebo-controlled Study, Followed by an Open-label Extension Study Evaluating the Efficacy and Safety of Risperidone (R064766) in Children and Adolescents With Irritability Associated With Autistic Disorder Completed NCT01624675 Phase 3 Risperidone;Placebo
38 Multisite Controlled Secretin Trial in Autism Completed NCT00065962 Phase 3 secretin, synthetic porcine;secretin, biologically derived porcine
39 Galantamine Versus Placebo in Childhood Autism Completed NCT00252603 Phase 3 Galantamine
40 Targeted Pharmacologic Interventions for Autism: A Double-Blind, Placebo-Controlled Trial of Atomoxetine in Children and Adolescents With Autism Completed NCT00498173 Phase 3 Atomoxetine;Placebo
41 ADHD Symptoms in Autism: Cognition, Behavior, Treatment Completed NCT00178503 Phase 2, Phase 3 Methylphenidate-extended release;Methylphenidate-immediate release
42 To Mirror or Not to Mirror Upon Perceived Eye Contact? The Effect of Oxytocin on Socially Adaptive Mirror System Functioning in Autism Recruiting NCT03640156 Phase 3 Oxytocin
43 Testing a Novel Speech Intervention in Minimally Verbal Children With Autism Spectrum Disorder (ASD) Recruiting NCT03015272 Phase 2, Phase 3
44 A Multidisciplinary Approach to the Treatment of Encopresis in Children With Autism Spectrum Disorders Recruiting NCT03197922 Phase 3
45 A Pilot Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder Active, not recruiting NCT02985749 Phase 3 Intranasal Oxytocin
46 Double-Blind Placebo-Controlled Study of Acamprosate in Autism Active, not recruiting NCT01813318 Phase 2, Phase 3 Acamprosate;Placebo
47 An Open-Label Extension Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of STX209 (Arbaclofen) in Subjects With Autism Spectrum Disorders Terminated NCT01706523 Phase 3 STX209 (arbaclofen)
48 Oxytocin in Adolescents With Autism Spectrum Disorders Terminated NCT02007447 Phase 2, Phase 3 OCYTOCINA - SPRAY NASAL
49 Randomized, Placebo Controlled Double-blind Study of the Efficacy of Topiramate on the Symptoms of Irritability - Impulsivity, Overeating and Self-harm in a Population of Patients Suffering From Prader Willi Syndrome Over 8 Weeks Terminated NCT02810483 Phase 3 Topiramate;Placebo Comparator
50 Initial Development of Cortical Metrics, an Objective, Physiologically-Based Outcome Measure, for Intervention Trials in Autism Spectrum Disorders (ASD) Withdrawn NCT02212275 Phase 2, Phase 3 Dextromethophan

Search NIH Clinical Center for Pervasive Developmental Disorder

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Genetic Tests for Pervasive Developmental Disorder

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Anatomical Context for Pervasive Developmental Disorder

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MalaCards organs/tissues related to Pervasive Developmental Disorder:

41
Brain, Testes, Eye, Liver, Bone, Bone Marrow, Cortex
Sources

Publications for Pervasive Developmental Disorder

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Articles related to Pervasive Developmental Disorder:

(show top 50) (show all 1928)
# Title Authors PMID Year
1
Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation. 9 38
19189931 2009
2
[Autism, epilepsy and genetics]. 9 38
18302128 2008
3
Serotonin transporter intron 2 polymorphism associated with rigid-compulsive behaviors in Dutch individuals with pervasive developmental disorder. 9 38
15635668 2005
4
Secretin is an ineffective treatment for pervasive developmental disabilities: a review of 15 double-blind randomized controlled trials. 9 38
15590241 2005
5
Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders. 9 38
14734626 2004
6
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. 9 38
14963808 2004
7
Absence of MeCP2 mutations in patients from the South Carolina autism project. 9 38
12555243 2003
8
Minor form of trigonocephaly is an autistic skull shape? A suggestion based on homeobox gene variants and MECP2 mutations. 9 38
12027529 2002
9
Pervasive developmental disorders and GABAergic system in patients with inverted duplicated chromosome 15. 9 38
11785506 2001
10
Knockout of latrophilin-3 in Sprague-Dawley rats causes hyperactivity, hyper-reactivity, under-response to amphetamine, and disrupted dopamine markers. 38
31176715 2019
11
Autism spectrum disorder in children with Type 1 diabetes. 38
31271682 2019
12
Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview. 38
30793794 2019
13
Aripiprazole for treating irritability associated with autism spectrum disorders. 38
31180743 2019
14
DSM-5 criteria for autism spectrum disorder maximizes diagnostic sensitivity and specificity in preschool children. 38
30850887 2019
15
Feasibility and Outcomes of the Early Start Denver Model Implemented with Low Intensity in a Community Setting in Austria. 38
31107360 2019
16
The relationship between symptoms of autism spectrum disorder and visual impairment among adults with intellectual disability. 38
31136093 2019
17
Neuromodulation of autism spectrum disorders using vagal nerve stimulation. 38
30732986 2019
18
Frequency and association of mitochondrial genetic variants with neurological disorders. 38
30218715 2019
19
Diagnostic validity of the MINI-KID disorder classifications in specialized child and adolescent psychiatric outpatient clinics in Sweden. 38
31072319 2019
20
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. 38
30973853 2019
21
Relationship in Quality of Diet, Food Habit and Feeding Practice in Children with Pervasive Developmental Disorder and Their Caregiver. 38
31089463 2019
22
Psychiatric comorbidity in persons with high-functioning autism spectrum disorders: Findings from a tertiary care neuropsychiatric hospital. 38
30316630 2019
23
How has DSM-5 Affected Autism Diagnosis? A 5-Year Follow-Up Systematic Literature Review and Meta-analysis. 38
30852784 2019
24
Impaired innate and conditioned social behavior in adult C57Bl6/J mice prenatally exposed to chlorpyrifos. 38
30823929 2019
25
Child and Adolescent Psychosocial Care Center service use profile in Brazil: 2008 to 2012. 38
30540024 2019
26
Patterns of Nonsocial and Social Cognitive Functioning in Adults With Autism Spectrum Disorder: A Systematic Review and Meta-analysis. 38
30601878 2019
27
Five-year diagnostic stability among adolescents in an inpatient psychiatric unit. 38
30583125 2019
28
Autism and social anxiety in children with sex chromosome trisomies: an observational study. 38
31231689 2019
29
Characterization of an Animal Model of Autism and Social Interaction. 38
30535692 2019
30
Everolimus for epilepsy and autism spectrum disorder in tuberous sclerosis complex: EXIST-3 substudy in Japan. 38
30060984 2019
31
A 17-Year-Old Boy With High-Functioning Autism, Gastrointestinal Illness, and Seizures. 38
30545828 2019
32
A new machine learning model based on induction of rules for autism detection. 38
30693818 2019
33
Acceptability of the Transitional Wearable Companion "+me" in Typical Children: A Pilot Study. 38
30800083 2019
34
Disruptive Behaviors across Different Disorders: Evaluation of a Clinical Sample Using the Eyberg Child Behavior Inventory. 38
30022702 2019
35
[Effects of the Stepping Stones Triple P for mothers of pre-school children with suspected Autistic Spectrum Disorder]. 38
31189785 2019
36
Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function. 38
30789962 2019
37
The yield of structural magnetic resonance imaging in autism spectrum disorders. 38
30546152 2018
38
Emotional Processing in Autism Spectrum Disorders: Effects of Age, Emotional Valence, and Social Engagement on Emotional Language Use. 38
29971659 2018
39
The Coexistence of Disabling Conditions in Children Who Stutter: Evidence From the National Health Interview Survey. 38
30458520 2018
40
General paediatrics outpatient consultation fees, bulk billing rates and service use patterns in Australia. 38
30151870 2018
41
Is hiragana decoding impaired in children with periventricular leukomalacia? 38
29908673 2018
42
Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012. 38
30439868 2018
43
The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations. 38
30463616 2018
44
Autism Spectrum Disorder: Classification, diagnosis and therapy. 38
29763648 2018
45
Potential identification of vitamin B6 responsiveness in autism spectrum disorder utilizing phenotype variables and machine learning methods. 38
30287864 2018
46
Nurse-led brief sleep education intervention aimed at parents of school-aged children with neurodevelopmental and mental health disorders: Results from a pilot study. 38
30480370 2018
47
Association of Tourette Syndrome and Chronic Tic Disorders With Objective Indicators of Educational Attainment: A Population-Based Sibling Comparison Study. 38
29813161 2018
48
Screening Accuracy of the Brief Infant Toddler Social-Emotional Assessment to Identify Autism Spectrum Disorder in Toddlers Born at Less Than 30 Weeks' Gestation. 38
29147839 2018
49
The Pattern of Psychiatric Morbidity in an Outpatient Child Psychiatry Clinic: A Cross-sectional, Descriptive Study from a Tertiary Care Hospital in Kashmir, North India. 38
30093746 2018
50
Diagnostic tests for autism spectrum disorder (ASD) in preschool children. 38
30075057 2018
Sources

Variations for Pervasive Developmental Disorder

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ClinVar genetic disease variations for Pervasive Developmental Disorder:

6 (show top 50) (show all 69)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PPP2R1A NM_014225.6(PPP2R1A): c.773G> A (p.Arg258His) single nucleotide variant Pathogenic rs863225094 19:52716329-52716329 19:52213076-52213076
2 ASF1A ; CEP85L ; DCBLD1 ; FAM184A ; GOPC ; MCM9 ; NUS1 ; PLN ; SLC35F1 NC_000006.11 deletion Pathogenic 6:117810940-119417749 :0-0
3 46;XY;inv(3)(p13q21)dn inversion Pathogenic
4 46;XY;t(6;12)(q14;q24);20p+dn complex Pathogenic
5 46;XY;t(2;22)(q23;q13)dn Translocation Pathogenic
6 46;XY;inv(12)(p12.1q21.2)dn inversion Pathogenic
7 46;XY;t(9;11)(q34;p11.2)dn Translocation Pathogenic
8 46;XY;t(8;10)(q13;p13)dn Translocation Pathogenic
9 46;XX;t(3;14)(q25;q11.2)dn Translocation Pathogenic
10 46;XY;t(7;19)(q32;q13.1)dn Translocation Pathogenic
11 46;XX;inv(7)(q11.23q36.3)dn inversion Pathogenic
12 46;XY;t(2;6)(q33;q21)dn Translocation Pathogenic
13 46;XY;t(5;15)(q11.2;q24) Translocation Pathogenic
14 46;XX;t(19;21)(q13.3;q22.3)dn Translocation Pathogenic
15 46;XY;t(3;18)(q13.31;q22.1)dn Translocation Pathogenic
16 NLGN3 NM_018977.4(NLGN3): c.1540C> T (p.Pro514Ser) single nucleotide variant Pathogenic X:70387547-70387547 X:71167697-71167697
17 MEFV NM_000243.2(MEFV): c.2080A> G (p.Met694Val) single nucleotide variant Pathogenic/Likely pathogenic rs61752717 16:3293407-3293407 16:3243407-3243407
18 TCF20 NM_005650.3(TCF20): c.5725C> T (p.His1909Tyr) single nucleotide variant Pathogenic/Likely pathogenic 22:42575639-42575639 22:42179633-42179633
19 ZBTB20 NM_001348803.2(ZBTB20): c.1955A> T (p.His652Leu) single nucleotide variant Likely pathogenic 3:114058123-114058123 3:114339276-114339276
20 46;XX;t(6;21)(q14;q21)dn Translocation Likely pathogenic
21 GRIN1 NM_007327.4(GRIN1): c.2531G> T (p.Arg844Leu) single nucleotide variant Likely pathogenic 9:140058298-140058298 9:137163846-137163846
22 46;XX;inv(5)(p12q13.1)dn inversion Likely pathogenic
23 46;XY;t(1;4)(q21.3;p15.2)dn Translocation Likely pathogenic
24 46;XY;t(1;12)(p32;p13)dn Translocation Likely pathogenic
25 46;XY;t(3;5)(q23;q13)dn Translocation Likely pathogenic
26 46;XX;t(6;13)(q21;q32)dn Translocation Likely pathogenic
27 46;XY;t(1;2)(q31.2;p15) Translocation Likely pathogenic
28 TBR1 NM_006593.4(TBR1): c.1581_1587GGCTGCA[3] (p.Thr532fs) short repeat Likely pathogenic rs869312704 2:162280277-162280283 2:161423766-161423772
29 RSRC2 NM_023012.6(RSRC2): c.425G> A (p.Arg142Gln) single nucleotide variant Likely pathogenic rs752134549 12:123001951-123001951 12:122517404-122517404
30 FMR1 NM_002024.5(FMR1): c.199-2A> G single nucleotide variant Likely pathogenic rs1057518850 X:147009838-147009838 X:147928320-147928320
31 GRIN2B NM_000834.4(GRIN2B): c.2225G> T (p.Arg742Ile) single nucleotide variant Likely pathogenic rs1555103646 12:13722898-13722898 12:13569964-13569964
32 TBR1 NM_006593.4(TBR1): c.471del (p.Ala156_Tyr157insTer) deletion Likely pathogenic rs1553510171 2:162273392-162273392 2:161416881-161416881
33 TBR1 NM_006593.4(TBR1): c.673A> T (p.Ile225Phe) single nucleotide variant Likely pathogenic rs1553510217 2:162273594-162273594 2:161417083-161417083
34 TBR1 NM_006593.4(TBR1): c.713_719del (p.Ser238fs) deletion Likely pathogenic rs1553510280 2:162274207-162274213 2:161417696-161417702
35 TBR1 NM_006593.4(TBR1): c.811T> C (p.Trp271Arg) single nucleotide variant Likely pathogenic rs1553510301 2:162274305-162274305 2:161417794-161417794
36 TBR1 NM_006593.4(TBR1): c.844C> T (p.Gln282Ter) single nucleotide variant Likely pathogenic rs1553510313 2:162274338-162274338 2:161417827-161417827
37 TBR1 NM_006593.4(TBR1): c.896G> A (p.Trp299Ter) single nucleotide variant Likely pathogenic rs1553510385 2:162274760-162274760 2:161418249-161418249
38 TBR1 NM_006593.4(TBR1): c.1155C> G (p.Asn385Lys) single nucleotide variant Likely pathogenic rs762713626 2:162276733-162276733 2:161420222-161420222
39 TBR1 NM_006593.4(TBR1): c.1177dup (p.Asp393fs) duplication Likely pathogenic rs1553510680 2:162276755-162276755 2:161420244-161420244
40 TBR1 NM_006593.4(TBR1): c.1369_1371delinsCA (p.Thr457fs) indel Likely pathogenic rs1553511175 2:162280058-162280060 2:161423547-161423549
41 TBR1 NM_006593.4(TBR1): c.1639_1648dup (p.Pro550fs) duplication Likely pathogenic rs1553511216 2:162280326-162280327 2:161423815-161423816
42 TBR1 NM_006593.4(TBR1): c.1653_1654del (p.Gln552fs) deletion Likely pathogenic rs1553511226 2:162280342-162280343 2:161423831-161423832
43 subset of 21 genes:SLC4A10 ; TBR1 deletion Likely pathogenic 2:160075929-164666149 :0-0
44 TBR1 deletion Likely pathogenic 2:161561653-163178787 :0-0
45 TBR1 deletion Likely pathogenic 2:161967492-162428730 :0-0
46 CNTN6 NM_014461.4(CNTN6): c.566C> A (p.Ser189Ter) single nucleotide variant Likely pathogenic rs773080572 3:1337396-1337396 3:1295712-1295712
47 WFS1 NM_006005.3(WFS1): c.2603G> A (p.Arg868His) single nucleotide variant Conflicting interpretations of pathogenicity rs56393026 4:6304125-6304125 4:6302398-6302398
48 46;XY;t(3;6)(q26.2;q16.2)dn Translocation Uncertain significance
49 46;XX;inv(3)(q13.2q28-29)dn inversion Uncertain significance
50 46;XX;t(9;16)(q22.3;p11.2)dn Translocation Uncertain significance
Sources

Expression for Pervasive Developmental Disorder

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Search GEO for disease gene expression data for Pervasive Developmental Disorder.
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Pathways for Pervasive Developmental Disorder

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Pathways related to Pervasive Developmental Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.99 SHANK2 MECP2 KCND2 CNTNAP2
2
Transmission across Chemical Synapses 66
Show member pathways
 11.95 SLC6A4 SHANK2 NLGN4X NLGN3 KCND2 GABRB3
3
Cell adhesion molecules (CAMs) 37
11.66 NLGN4X NLGN3 CNTNAP2
4
Protein-protein interactions at synapses 66
Show member pathways
 11.55 SHANK2 NLGN4X NLGN3
5
Serotonergic synapse 37
11.19 SLC6A4 KCND2 GABRB3
Sources

GO Terms for Pervasive Developmental Disorder

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Cellular components related to Pervasive Developmental Disorder according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.91 SHANK2 PPP2R1A MEFV KCND2 CTNND2 CNTNAP2
2 synapse GO:0045202 9.85 SHANK2 NLGN4X NLGN3 KCND2 GABRB3
3 postsynaptic density GO:0014069 9.71 SHANK2 NLGN4X KCND2 CTNND2
4 perikaryon GO:0043204 9.69 KCND2 CTNND2 CNTNAP2
5 presynapse GO:0098793 9.67 SLC6A4 NLGN4X NLGN3
6 postsynaptic membrane GO:0045211 9.67 SHANK2 NLGN4X KCND2 GABRB3
7 postsynapse GO:0098794 9.65 NLGN3 MECP2 EIF4E
8 cell junction GO:0030054 9.5 SHANK2 NLGN4X NLGN3 KCND2 GABRB3 CTNND2
9 spanning component of membrane GO:0089717 9.32 NLGN4X NLGN3
10 asymmetric, glutamatergic, excitatory synapse GO:0098985 9.26 NLGN4X NLGN3
11 symmetric, GABA-ergic, inhibitory synapse GO:0098983 9.16 NLGN4X NLGN3
12 dendrite GO:0030425 9.1 SHANK2 PPP2R1A NLGN4X KCND2 CTNND2 CNTNAP2

Biological processes related to Pervasive Developmental Disorder according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.72 SLC6A4 SCT MECP2 CNTNAP2 CHD8
2 memory GO:0007613 9.71 SLC6A4 SHANK2 MECP2
3 synapse assembly GO:0007416 9.65 SHANK2 NLGN3 MECP2
4 positive regulation of excitatory postsynaptic potential GO:2000463 9.62 SHANK2 NLGN3
5 regulation of AMPA receptor activity GO:2000311 9.61 SHANK2 NLGN3
6 brain morphogenesis GO:0048854 9.61 SLC6A4 SHANK2
7 cerebellum development GO:0021549 9.61 NLGN4X MECP2 FOXP2
8 dendritic spine morphogenesis GO:0060997 9.6 SHANK2 CTNND2
9 startle response GO:0001964 9.59 MECP2 CHD8
10 neuron cell-cell adhesion GO:0007158 9.58 NLGN4X NLGN3
11 presynapse assembly GO:0099054 9.58 NLGN4X NLGN3
12 long-term synaptic potentiation GO:0060291 9.58 SHANK2 NLGN3 MECP2
13 thalamus development GO:0021794 9.57 PTCHD1 CNTNAP2
14 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.56 NLGN3 MECP2
15 adult behavior GO:0030534 9.56 SHANK2 NLGN4X NLGN3 CNTNAP2
16 presynaptic membrane assembly GO:0097105 9.55 NLGN4X NLGN3
17 learning GO:0007612 9.55 SHANK2 NLGN4X NLGN3 MECP2 CNTNAP2
18 synapse organization GO:0050808 9.54 NLGN4X NLGN3 CTNND2
19 postsynaptic membrane assembly GO:0097104 9.52 NLGN4X NLGN3
20 negative regulation of excitatory postsynaptic potential GO:0090394 9.51 NLGN4X NLGN3
21 inhibitory postsynaptic potential GO:0060080 9.49 NLGN3 GABRB3
22 vocal learning GO:0042297 9.46 FOXP2 CNTNAP2
23 vocalization behavior GO:0071625 9.26 SHANK2 NLGN4X NLGN3 CNTNAP2
24 social behavior GO:0035176 9.23 SLC6A4 SHANK2 PTCHD1 NLGN4X NLGN3 MECP2

Molecular functions related to Pervasive Developmental Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 TMLHE TCF20 SLC9A9 SLC6A4 SHANK2 RPL10
2 translation regulator activity GO:0045182 9.16 RPL10 EIF4E
3 neurexin family protein binding GO:0042043 8.96 NLGN4X NLGN3
Sources

Sources for Pervasive Developmental Disorder

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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