Pervasive Developmental Disorder

Categories: Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Pervasive Developmental Disorder

MalaCards integrated aliases for Pervasive Developmental Disorder:

Name: Pervasive Developmental Disorder 11 53 5 14 75
Pervasive Developmental Disorders 52 31
Pervasive Development Disorder 11 71
Pervasive Child Development Disorders 11
Autism Spectrum Disorders 71
Autistic Behavior 71


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Disease Ontology 11 DOID:0060040
ICD9CM 34 299.80
ICD10 31 F84 F84.9
UMLS 71 C0154451 C0524528 C0856975 more

Summaries for Pervasive Developmental Disorder

NINDS: 52 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 rare pervasive developmental disorder, and has symptoms including photophobia, personality changes and restlessness. An important gene associated with Pervasive Developmental Disorder is SPTBN1 (Spectrin Beta, Non-Erythrocytic 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neuroscience. The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone marrow and eye, and related phenotypes are nervous system and growth/size/body region

Disease Ontology: 11 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...

Related Diseases for Pervasive Developmental Disorder

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 225)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 33.2 SLC6A4 SHANK2 PTCHD1 NLGN4X NLGN3 MECP2
2 rare pervasive developmental disorder 32.8 UBE4A SPTBN1 FBXW7
3 childhood disintegrative disease 32.8 SHANK2 NLGN4X NLGN3 MECP2 GABRB3 CNTNAP2
5 asperger syndrome 32.4 SLC6A4 NLGN4X NLGN3 NLGN1 MECP2 GABRB3
6 atypical autism 32.4 SHANK2 NLGN4X NLGN3 MECP2 GABRB3
7 specific developmental disorder 32.4 SLC6A4 SHANK2 NLGN4X NLGN3 MECP2 FOXP2
8 attention deficit-hyperactivity disorder 31.7 SLC9A9 SLC6A4 SHANK2 PTCHD1 NLGN4X NLGN3
9 gilles de la tourette syndrome 31.2 SLC6A4 SHANK2 NLGN4X NLGN3 NLGN1 CNTNAP2
10 tic disorder 31.1 SLC6A4 SHANK2 NLGN4X NLGN3 CNTNAP2
11 speech and communication disorders 31.1 MECP2 FOXP2 CNTNAP2
12 echolalia 30.9 NLGN4X NLGN3 MECP2 GABRB3 FOXP2 CNTNAP2
13 psychotic disorder 30.9 SLC6A4 SHANK2 MECP2 GABRB3 CNTNAP2
14 fragile x syndrome 30.8 SLC6A4 MECP2 KCND2 EIF4E
15 phelan-mcdermid syndrome 30.7 SHANK2 NLGN4X NLGN3 MECP2 CNTNAP2
16 learning disability 30.7 NLGN4X MECP2 FOXP2 CNTNAP2
17 chronic tic disorder 30.6 NLGN4X CNTNAP2
18 schizophrenia 30.6 TMLHE SLC6A4 SHANK2 NLGN4X NLGN1 MECP2
19 early myoclonic encephalopathy 30.6 MECP2 KCND2 GABRB3
20 expressive language disorder 30.6 FOXP2 CNTNAP2
21 developmental coordination disorder 30.5 FOXP2 CNTNAP2
22 dravet syndrome 30.5 MECP2 GABRB3 CNTNAP2
23 chromosome 22q11.2 deletion syndrome, distal 30.5 NLGN4X MECP2 CHD8
24 autism x-linked 1 11.3
25 autism x-linked 2 11.3
26 autism x-linked 3 11.3
27 autism x-linked 4 11.3
28 autism x-linked 5 11.3
29 autism x-linked 6 11.3
30 autism 15 11.3
31 autism 16 11.3
32 autism 17 11.3
33 potocki-lupski syndrome 11.3
34 autism 8 11.2
35 autism 6 11.2
36 autism 3 11.2
37 autism 7 11.2
38 autism 11 11.2
39 autism 12 11.2
40 autism 13 11.2
41 autism 9 11.2
42 autism 10 11.2
43 landau-kleffner syndrome 11.1
44 neurodegeneration with brain iron accumulation 1 11.1
45 neurodegeneration with brain iron accumulation 2a 11.1
46 chromosome 16p11.2 deletion syndrome, 220-kb 11.1
47 intellectual developmental disorder with autism and macrocephaly 11.1
48 autism 19 11.1
49 intellectual developmental disorder, autosomal recessive 41 11.1
50 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 11.1

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

Diseases related to Pervasive Developmental Disorder

Symptoms & Phenotypes for Pervasive Developmental Disorder

UMLS symptoms related to Pervasive Developmental Disorder:

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

MGI Mouse Phenotypes related to Pervasive Developmental Disorder:

# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 CHD8 CNTNAP2 CTNND2 FBXW7 FOXP2 GABRB3
2 growth/size/body region MP:0005378 9.83 CHD8 CNTNAP2 FAN1 FBXW7 FOXP2 GABRB3
3 behavior/neurological MP:0005386 9.47 CHD8 CNTNAP2 CTNND2 FOXP2 GABRB3 KCND2

Drugs & Therapeutics for Pervasive Developmental Disorder

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

(show top 50) (show all 163)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
Memantine Approved, Investigational Phase 4 41100-52-1, 19982-08-2 4054
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
Atomoxetine Approved Phase 4 82248-59-7, 83015-26-3 54841
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
Acetylcysteine Approved, Investigational Phase 4 616-91-1 581 12035
Inositol Approved, Investigational, Withdrawn Phase 4 87-89-8
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
12 Immunologic Factors Phase 4
13 Immunoglobulins, Intravenous Phase 4
14 Immunoglobulins Phase 4
15 Antibodies Phase 4
16 gamma-Globulins Phase 4
17 Rho(D) Immune Globulin Phase 4
18 Antipsychotic Agents Phase 4
19 Dopamine Antagonists Phase 4
20 Dopamine Agents Phase 4
21 Antiparkinson Agents Phase 4
22 Excitatory Amino Acid Antagonists Phase 4
23 Adrenergic alpha-Agonists Phase 4
24 Adrenergic Agonists Phase 4
25 Dopamine agonists Phase 4
26 Antidepressive Agents Phase 4
27 Serotonin 5-HT1 Receptor Agonists Phase 4
28 Pharmaceutical Solutions Phase 4
29 Hypoglycemic Agents Phase 4
30 Vitamins Phase 4
31 Trace Elements Phase 4
32 Micronutrients Phase 4
33 Anti-Infective Agents Phase 4
34 Antiviral Agents Phase 4
35 Expectorants Phase 4
36 Antidotes Phase 4
37 N-monoacetylcystine Phase 4
38 Respiratory System Agents Phase 4
39 Folate Phase 4
40 Vitamin B9 Phase 4
41 Vitamin B Complex Phase 4
42 Antioxidants Phase 4
43 Protective Agents Phase 4
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
Cycloserine Approved Phase 3 68-41-7 6234
Histamine Approved, Investigational Phase 3 51-45-6 774
Mirtazapine Approved Phase 3 85650-52-8, 61337-67-5 4205
Bisacodyl Approved Phase 3 603-50-9 2391
Amitriptyline Approved Phase 3 50-48-6 2160
50 Anti-Bacterial Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 267)
# Name Status NCT ID Phase Drugs
1 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%
2 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
3 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
4 The Role of Omega-3 Fatty Acids in the Management of Singaporean Children With Autism Spectrum Disorders Completed NCT01695200 Phase 4
5 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
6 Improving Driving in Young People With Autism Spectrum Disorders Completed NCT03538431 Phase 4 Buspirone
7 Oxytocin-based Pharmacotherapy for Autism Spectrum Disorders: Investigating the Neural and Behavioral Effects of a Promising Intervention Approach Completed NCT02940574 Phase 4 Syntocinon (Oxytocin)
8 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
9 A Prospective Open-label Trial of Metformin for Weight Control of Pediatric Patients on Atypical Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
10 Multisite Study: Acquisition of Social Skills in Children With Autism Using Video Modeling in Parental Training Completed NCT02235467 Phase 4
11 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
12 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
13 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
14 Effects of Risperidone on Cognitive-Motor Performance and Motor Movements in Chronically Medicated Children Completed NCT00399698 Phase 3 Risperdal
15 Pharmacotherapy of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
16 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
17 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
18 Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders Completed NCT01302964 Phase 3 Placebo;Mirtazapine
19 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
20 Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) Completed NCT01825798 Phase 3 Metformin;Placebo
21 Cognitive-Behavioral Treatment for Anxiety Disorders in Children With Autism Spectrum Disorders Completed NCT01178385 Phase 2, Phase 3
22 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
23 A Multidisciplinary Approach to the Treatment of Encopresis in Children With Autism Spectrum Disorders Active, not recruiting NCT03197922 Phase 3
24 Amitriptyline for Repetitive Behaviors in Children and Adolescents With Autism Spectrum Disorders Not yet recruiting NCT04725383 Phase 3 amitriptyline
25 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)
26 Oxytocin in Adolescents With Autism Spectrum Disorders Terminated NCT02007447 Phase 2, Phase 3 OCYTOCINA - SPRAY NASAL
27 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
28 Randomized Double-Blind Trial of Low-Dose Naltrexone for Children With PDD Unknown status NCT00318162 Phase 1, Phase 2 low dose naltrexone
29 Evaluation of the Efficiency of Folinic Acid in Children With Autism Spectrum Disorders: a Pilot Study "EFFET" Unknown status NCT02551380 Phase 2 FOLINORAL
30 Autologous Bone Marrow Stem Cells for Children With Autism Spectrum Disorders Unknown status NCT01740869 Phase 1, Phase 2
31 Pharmacogenetics of Risperidone in Children With Pervasive Developmental Disorder (PDD) Completed NCT00166595 Phase 1, Phase 2 Risperidone
32 A Double-Blind, Placebo-Controlled, Randomized Withdrawal Study of the Safety and Efficacy of Memantine in Pediatric Patients With Autism, Asperger's Disorder, or Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) Previously Treated With Memantine Completed NCT01592747 Phase 2 Memantine Hydrochloride (HCl);Placebo capsules
33 An Open-Label Study of the Safety and Tolerability of Memantine in Pediatric Patients With Autism, Asperger's Disorder, or Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) Completed NCT01592786 Phase 2 Memantine Hydrochloride (HCl)
34 A Prospective Open-Label Trial of Aripiprazole Monotherapy in the Autism Spectrum Disorders (ASD) Completed NCT00308074 Phase 2 Aripiprazole
35 An Open-Label Study of Aripiprazole in Children and Adolescents With Autistic Disorder Completed NCT00198055 Phase 2 aripiprazole
36 CBT for Anxiety Disorders in Autism: Adapting Treatment for Adolescents Completed NCT01177969 Phase 1, Phase 2
37 An Open-Label, Flexible-Dose Evaluation of the Safety and Tolerability of STX209 for Treatment of Irritability in Subjects With Autism Spectrum Disorders Completed NCT00846547 Phase 2 Arbaclofen
38 A Pilot Study of Oral N-Acetylcysteine in Children With Autism Spectrum Disorders Completed NCT00453180 Phase 2 N-acetylcysteine;Placebo
39 Targeting GABA-A for the Treatment of Social Disability in Young Adults With Autism Spectrum Disorders: A Phase II Proof of Mechanism Trial Completed NCT01966679 Phase 2 AZD7325;Placebo
40 Effects of the Anti-inflammatory Flavonoid Luteolin on Behavior in Children With Autism Spectrum Disorders Completed NCT01847521 Phase 2
41 Therapeutic Issues for Autism Spectrum Disorders: a Clinical Trial Completed NCT03887754 Phase 2 Risperidone;Non specific Multivitamin
42 A Randomized Placebo-controlled Trial of Tideglusib vs. Placebo in the Treatment of Adolescents With Autism Spectrum Disorders (ASD) Completed NCT02586935 Phase 2 Tideglusib
43 Target Engagement for Intranasal Oxytocin in Autism Spectrum Disorders, an fMRI Dose Response Study Completed NCT03033784 Phase 2 8 International Units (IU) of Oxytocin;24IU of Oxytocin;48IU of Oxytocin;Placebo
44 The ScanBrit Randomised Controlled Study of Gluten- and Casein-free Dietary Intervention for Children With Autism Spectrum Disorders Completed NCT00614198 Phase 2
45 An Open Label Study of Aripiprazole in Children and Adolescents With Autism Spectrum Disorders Completed NCT00619190 Phase 2 aripiprazole
46 A Pilot Study of Riluzole vs. Placebo in the Treatment of Children and Adolescents With Autism Spectrum Disorders Completed NCT01661855 Phase 2 Riluzole;Placebo
47 An Investigation Into the Effectiveness of NAET on Autism Spectrum Disorders Completed NCT00247156 Phase 1, Phase 2
48 A Randomized, Placebo Controlled, Double-blind, 3-period Cross-over Study in Adult Patients With Autism Spectrum Disorders Evaluating Cognitive Response After Single- Dose Oxytocin 8 or 24 IU Intranasal Administration Using the OptiNose Bi-directional Nose-to-brain Device Completed NCT02414503 Phase 1, Phase 2 8IU intranasal oxytocin;24IU intranasal oxytocin;Placebo
49 Citalopram Treatment in Children With Autism Spectrum Disorders and High Levels of Repetitive Behavior Completed NCT00086645 Phase 2 citalopram hydrobromide
50 Intranasal Oxytocin for the Treatment of Children and Adolescents With Autism Spectrum Disorders (ASD) Completed NCT01256060 Phase 2 Intranasal Oxytocin

Search NIH Clinical Center for Pervasive Developmental Disorder

Genetic Tests for Pervasive Developmental Disorder

Anatomical Context for Pervasive Developmental Disorder

Organs/tissues related to Pervasive Developmental Disorder:

MalaCards : Brain, Bone Marrow, Eye, Bone, Liver, Prefrontal Cortex, Placenta

Publications for Pervasive Developmental Disorder

Articles related to Pervasive Developmental Disorder:

(show top 50) (show all 2042)
# Title Authors PMID Year
Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation. 53 62
19189931 2009
[Autism, epilepsy and genetics]. 53 62
18302128 2008
Serotonin transporter intron 2 polymorphism associated with rigid-compulsive behaviors in Dutch individuals with pervasive developmental disorder. 53 62
15635668 2005
Secretin is an ineffective treatment for pervasive developmental disabilities: a review of 15 double-blind randomized controlled trials. 53 62
15590241 2005
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. 53 62
14963808 2004
Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders. 53 62
14734626 2004
Absence of MeCP2 mutations in patients from the South Carolina autism project. 53 62
12555243 2003
Minor form of trigonocephaly is an autistic skull shape? A suggestion based on homeobox gene variants and MECP2 mutations. 53 62
12027529 2002
Pervasive developmental disorders and GABAergic system in patients with inverted duplicated chromosome 15. 53 62
11785506 2001
Using developmental regression to reorganize the clinical importance of autistic atypicalities. 62
36456542 2022
Long-term physical and neurodevelopmental outcomes after antenatal betamethasone administration for congenital heart block prevention. 62
33207991 2022
Disrupted network integration and segregation involving the default mode network in autism spectrum disorder. 62
36455716 2022
Aggressive challenging behavior in adults with intellectual disability: An electronic register-based cohort study of clinical outcome and service use. 62
36321353 2022
Assessing The Dangers Of A Hospital Stay For Patients With Developmental Disability In England, 2017-19. 62
36190892 2022
Bioinformatics analysis of genomic and immune infiltration patterns in autism spectrum disorder. 62
36267781 2022
Early-onset of social communication and locomotion activity in F2 pups of a valproic acid-induced mouse model of autism. 62
35944594 2022
Associations Between Maternal Antenatal Corticosteroid Treatment and Psychological Developmental and Neurosensory Disorders in Children. 62
36001315 2022
Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method. 62
35987771 2022
Ophthalmologic Manifestations in Autism Spectrum Disorder. 62
36016969 2022
Human Umbilical Cord Blood Infusions in the Management of Autism Spectrum Disorder. 62
35666592 2022
Improvement of the Clinical and Psychological Profile of Patients with Autism after Methylcobalamin Syrup Administration. 62
35631176 2022
Relationship Between Sensory Processing and Autism Spectrum Disorder-Like Behaviors in Prader-Willi Syndrome. 62
35443050 2022
A randomized double-blind, placebo-controlled pilot trial of mirtazapine for anxiety in children and adolescents with autism spectrum disorder. 62
35241779 2022
Association of mental disorders and strabismus among South Korean children and adolescents: a nationwide population-based study. 62
34698906 2022
Screening for autism spectrum disorder in deaf adults with intellectual disability: Feasibility and accuracy of two autism screening instruments. 62
34998116 2022
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. 62
35248119 2022
Insomnia in Tourette Syndrome and Chronic Tic Disorder. 62
34693569 2022
Analysis of Cytogenetic Abnormalities in Iranian Patients with Syndromic Autism Spectrum Disorder: A Case Series. 62
35497098 2022
Dysregulated gene expression associated with inflammatory and translation pathways in activated monocytes from children with autism spectrum disorder. 62
35082275 2022
Comprehensive Intervention and Effect of Martial Arts Routines on Children with Autism. 62
36089974 2022
Evaluation and Analysis of the Intervention Effect of Systematic Parent Training Based on Computational Intelligence on Child Autism. 62
35720038 2022
Assessment of Peripheral Blood Lymphocytes in Parents of Autistic Children by Cytokinesis Block Micronucleus Assay. 62
33751343 2021
All-cause and cause-specific mortality in people with mental disorders and intellectual disabilities, before and during the COVID-19 pandemic: cohort study. 62
34877563 2021
IQ in Autism Spectrum Disorder: A Population-Based Birth Cohort Study. 62
34851412 2021
Assessing Ease of Delivering Emergency Care for Patients with Autism Spectrum Disorders. 62
34016829 2021
Validity of claims-based algorithms to identify neurodevelopmental disorders in children. 62
34623720 2021
Atypical cortical activation during fine motor tasks in autism spectrum disorder. 62
33932550 2021
Emotional Rational Education Training Associated with Mindfulness for Managing Anxiety within Adolescents Affected by High-Functioning Autism: A Descriptive Study. 62
34821617 2021
[From pervasive developmental disorders in ICD-10 to Autism Spectrum Disorder in ICD-11]. 62
33269947 2021
What is autism? 62
33694100 2021
Identification of Autism Subtypes Based on Wavelet Coherence of BOLD FMRI Signals Using Convolutional Neural Network. 62
34450699 2021
Social-communicative gestures at baseline predict verbal and nonverbal gains for children with autism receiving the Early Start Denver Model. 62
33779336 2021
Mental disorders in referred 0-3-year-old children: a population-based study of incidence, comorbidity and perinatal risk factors. 62
32815033 2021
Editorial: Analyzing Treatment and Prescribing in Large Administrative Datasets With a Lens on Equity. 62
33359220 2021
Trends in Antipsychotic Medication Use in Young Privately Insured Children. 62
33091567 2021
Informant (Dis)Agreement on Ratings of Challenging Behaviors and Social Communication in Preschool Children With Autism Spectrum Disorder. 62
34048667 2021
Association of digital media exposure and addiction with child development and behavior: A cross-sectional study. 62
35017810 2021
Rates of Neuropsychiatric Disorders and Gestational Age at Birth in a Danish Population. 62
34185070 2021
Assessment of Educational Attainment and Employment Among Individuals With Autism Spectrum Disorder in Denmark. 62
33818591 2021
A robust DWT-CNN-based CAD system for early diagnosis of autism using task-based fMRI. 62
33378589 2021

Variations for Pervasive Developmental Disorder

ClinVar genetic disease variations for Pervasive Developmental Disorder:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTBN1 NM_003128.3(SPTBN1):c.2275_2285del (p.Trp759fs) DEL Pathogenic
1326847 GRCh37: 2:54856546-54856556
GRCh38: 2:54629409-54629419
2 UBE4A NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs) DEL Likely Pathogenic
617553 rs1565532385 GRCh37: 11:118245679-118245680
GRCh38: 11:118374964-118374965
3 FBXW7 NM_001349798.2(FBXW7):c.1439A>G (p.Asp480Gly) SNV Likely Pathogenic
1703000 GRCh37: 4:153247363-153247363
GRCh38: 4:152326211-152326211

Expression for Pervasive Developmental Disorder

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

Pathways for Pervasive Developmental Disorder

Pathways directly related to Pervasive Developmental Disorder:

# Pathway Source
1 Pervasive developmental disorders Reactome 66

GO Terms for Pervasive Developmental Disorder

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 10.28 SLC6A4 SHANK2 PTCHD1 NLGN4X NLGN3 NLGN1
2 glutamatergic synapse GO:0098978 10.27 SPTBN1 SHANK2 NLGN1 KCND2 EIF4E
3 postsynaptic density GO:0014069 10.24 CTNND2 KCND2 NLGN1 SHANK2 SPTBN1
4 presynapse GO:0098793 10.1 SLC6A4 NLGN4X NLGN3 NLGN1
5 postsynapse GO:0098794 10.02 SPTBN1 NLGN1 MECP2 EIF4E
6 excitatory synapse GO:0060076 9.99 NLGN4X NLGN3 NLGN1
7 GABA-ergic synapse GO:0098982 9.97 NLGN4X NLGN3 NLGN1 KCND2
8 asymmetric, glutamatergic, excitatory synapse GO:0098985 9.91 NLGN4X NLGN3 NLGN1
9 symmetric, GABA-ergic, inhibitory synapse GO:0098983 9.83 NLGN4X NLGN3
10 inhibitory synapse GO:0060077 9.78 NLGN4X NLGN3 NLGN1
11 neuron to neuron synapse GO:0098984 9.76 NLGN1 NLGN3 NLGN4X
12 obsolete integral component of postsynaptic membrane GO:0099055 9.67 SLC6A4 NLGN3 NLGN1 KCND2
13 postsynaptic membrane GO:0045211 9.65 SLC6A4 SHANK2 NLGN4X NLGN3 NLGN1 KCND2
14 postsynaptic specialization membrane GO:0099634 9.56 NLGN4X NLGN3 NLGN1 KCND2
15 obsolete spanning component of membrane GO:0089717 9.5 NLGN1 NLGN3 NLGN4X
16 obsolete integral component of postsynaptic specialization membrane GO:0099060 9.46 NLGN4X NLGN3 NLGN1 KCND2
17 anchoring junction GO:0070161 9.28 SLC6A4 SHANK2 NLGN4X NLGN3 KCND2 GABRB3

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 10.14 SLC6A4 SHANK2 MECP2 CNTNAP2 CHD8
2 synapse assembly GO:0007416 10.11 MECP2 NLGN1 NLGN3 SHANK2
3 chemical synaptic transmission GO:0007268 10.07 PTCHD1 NLGN4X NLGN3 NLGN1 MECP2 KCND2
4 modulation of chemical synaptic transmission GO:0050804 10.03 NLGN4X NLGN3 NLGN1
5 synapse organization GO:0050808 10.02 NLGN4X NLGN3 NLGN1 CTNND2
6 synaptic vesicle endocytosis GO:0048488 10 NLGN4X NLGN3 NLGN1
7 neuron cell-cell adhesion GO:0007158 9.97 NLGN4X NLGN3 NLGN1
8 presynapse assembly GO:0099054 9.93 NLGN4X NLGN3 NLGN1
9 adult behavior GO:0030534 9.92 SHANK2 NLGN4X NLGN3 CNTNAP2
10 presynaptic membrane assembly GO:0097105 9.88 NLGN1 NLGN3 NLGN4X
11 thalamus development GO:0021794 9.85 PTCHD1 CNTNAP2
12 postsynaptic membrane assembly GO:0097104 9.85 NLGN4X NLGN3 NLGN1
13 regulation of respiratory gaseous exchange by nervous system process GO:0002087 9.83 NLGN3 NLGN1 MECP2
14 learning GO:0007612 9.81 CNTNAP2 MECP2 NLGN3 NLGN4X SHANK2
15 vocalization behavior GO:0071625 9.56 SHANK2 NLGN4X NLGN3 CNTNAP2
16 social behavior GO:0035176 9.53 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 cell adhesion molecule binding GO:0050839 9.63 NLGN4X NLGN3 NLGN1
2 scaffold protein binding GO:0097110 9.43 NLGN4X NLGN3 NLGN1
3 neurexin family protein binding GO:0042043 9.1 NLGN4X NLGN3 NLGN1

Sources for Pervasive Developmental Disorder

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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