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MCID: PRV006
MIFTS: 52

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 54 6 15
Pervasive Developmental Disorders 53 32
Pervasive Development Disorder 12 70
Autism Spectrum Disorders 70
Autistic Behavior 70

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Mental diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0060040
ICD9CM 34 299.80
ICD10 32 F84 F84.9
UMLS 70 C0154451 C0524528 C0856975 more
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Summaries for Pervasive Developmental Disorder

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NINDS : 53 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 atypical autism, and has symptoms including photophobia, restlessness and personality changes. An important gene associated with Pervasive Developmental Disorder is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways are Neuroscience and Transmission across Chemical Synapses. The drugs Aripiprazole and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and bone marrow, 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 : 73 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 191)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 32.9 TMLHE SLC6A4 SHANK2 SCT PTCHD1 PRODH
2 atypical autism 32.6 SHANK2 NLGN4X NLGN3 MECP2 GABRB3
3 potocki-lupski syndrome 32.6 PRODH NLGN3 MECP2
4 autism 32.4 TMLHE SLC9A9 SLC6A4 SHANK2 SCT PTCHD1
5 asperger syndrome 32.4 SLC6A4 SHANK2 NLGN4X NLGN3 MECP2 GABRB3
6 childhood disintegrative disease 32.4 SHANK2 NLGN4X NLGN3 MECP2 GABRB3 CNTNAP2
7 specific developmental disorder 32.3 SLC6A4 SHANK2 PRODH NLGN4X NLGN3 MECP2
8 landau-kleffner syndrome 32.3 MECP2 CNTNAP2
9 attention deficit-hyperactivity disorder 31.7 SLC9A9 SLC6A4 PRODH NLGN4X MECP2 FOXP2
10 epilepsy 31.3 UBE4A PRODH MECP2 KCND2 GABRB3 CNTNAP2
11 tic disorder 31.2 SLC6A4 PRODH NLGN4X NLGN3 CNTNAP2
12 gilles de la tourette syndrome 31.0 SLC6A4 NLGN4X CNTNAP2
13 bipolar disorder 31.0 SLC6A4 PRODH MECP2 GABRB3 CNTNAP2
14 echolalia 30.9 PRODH NLGN4X NLGN3 MECP2 FOXP2 CNTNAP2
15 schizophrenia 30.8 TMLHE TBX1 SLC6A4 SHANK2 SCT PRODH
16 fragile x syndrome 30.8 SLC6A4 SHANK2 PRODH NLGN4X NLGN3 MECP2
17 phelan-mcdermid syndrome 30.7 SHANK2 NLGN4X NLGN3 MECP2 CNTNAP2
18 childhood apraxia of speech 30.7 FOXP2 CNTNAP2
19 learning disability 30.7 PRODH MECP2 FOXP2 CNTNAP2
20 velocardiofacial syndrome 30.7 TBX1 PRODH MECP2 CNTNAP2
21 speech and communication disorders 30.7 PRODH MECP2 FOXP2 CNTNAP2
22 angelman syndrome 30.7 SHANK2 PRODH NLGN3 MECP2 GABRB3
23 early myoclonic encephalopathy 30.6 MECP2 KCND2 GABRB3
24 autosomal dominant nocturnal frontal lobe epilepsy 30.6 KCND2 GABRB3 FAN1
25 rare pervasive developmental disorder 11.4
26 autism x-linked 1 11.3
27 autism x-linked 2 11.3
28 autism x-linked 3 11.3
29 autism x-linked 4 11.3
30 autism x-linked 5 11.3
31 autism x-linked 6 11.3
32 autism 15 11.3
33 autism 16 11.3
34 autism 17 11.3
35 autism 18 11.3
36 autism 8 11.2
37 autism 6 11.2
38 autism 3 11.2
39 autism 7 11.2
40 autism 11 11.2
41 autism 12 11.2
42 autism 13 11.2
43 autism 9 11.2
44 autism 10 11.2
45 chromosome 16p11.2 deletion syndrome, 220-kb 11.0
46 autism 19 11.0
47 mental retardation, autosomal recessive 41 11.0
48 autism 20 11.0
49 pitt-hopkins-like syndrome 1 10.5 NLGN4X NLGN3 MECP2 CNTNAP2
50 pitt-hopkins syndrome 10.5 MECP2 CNTNAP2 CHD8

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 9.77 CHD8 CNTNAP2 CTNND2 GABRB3 KCND2 MECP2
2 nervous system MP:0003631 9.44 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 268)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
4
Buspirone Approved, Investigational Phase 4 36505-84-7 2477
5
Norepinephrine Approved Phase 4 51-41-2 439260
6
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
7
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
8
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
9
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
10
Inositol Approved, Investigational, Withdrawn Phase 4 87-89-8
11
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
12 Psychotropic Drugs Phase 4
13 Antidepressive Agents Phase 4
14 Dopamine Antagonists Phase 4
15 Serotonin 5-HT1 Receptor Agonists Phase 4
16 Serotonin Receptor Agonists Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 Analgesics Phase 4
19 Atomoxetine Hydrochloride Phase 4
20 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
21 Dopamine Agents Phase 4
22 Central Nervous System Stimulants Phase 4
23 Dopamine Uptake Inhibitors Phase 4
24 Expectorants Phase 4
25 Antiviral Agents Phase 4
26 N-monoacetylcystine Phase 4
27 Lisdexamfetamine Dimesylate Phase 4
28
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
29
Memantine Approved, Investigational Phase 3 19982-08-2 4054
30
Mirtazapine Approved Phase 3 85650-52-8, 61337-67-5 4205
31
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
32
Cycloserine Approved Phase 3 68-41-7 401 6234
33
Risperidone Approved, Investigational Phase 3 106266-06-2 5073
34
Metformin Approved Phase 3 657-24-9 14219 4091
35
Bisacodyl Approved Phase 3 603-50-9
36
Oxytocin Approved, Vet_approved Phase 3 50-56-6 439302 53477758
37
Bumetanide Approved Phase 3 28395-03-1 2471
38
Brexpiprazole Approved, Investigational Phase 3 913611-97-9 11978813
39
Perphenazine Approved Phase 3 58-39-9 4748
40
Amitriptyline Approved Phase 3 50-48-6 2160
41
Lithium carbonate Approved Phase 3 554-13-2
42 Excitatory Amino Acid Antagonists Phase 3
43 Antiparkinson Agents Phase 3
44 Adrenergic alpha-Antagonists Phase 3
45 Serotonin 5-HT3 Receptor Antagonists Phase 3
46 Histamine Antagonists Phase 3
47
Histamine Phosphate Phase 3 51-74-1 65513
48 Histamine H1 Antagonists Phase 3
49 Antimetabolites Phase 3
50 Antibiotics, Antitubercular Phase 3

Interventional clinical trials:

(show top 50) (show all 761)
# Name Status NCT ID Phase Drugs
1 A Multinational, Multicenter, Open-label, Single-arm Study to Evaluate the Efficacy and Safety of Aripiprazole in Asian Pediatric Patients With Autism Spectrum Disorder and Behavior Problems Unknown status NCT02069977 Phase 4 Aripiprazole
2 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
3 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine
4 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
5 The Role of Omega-3 Fatty Acids in the Management of Singaporean Children With Autism Spectrum Disorders Completed NCT01695200 Phase 4
6 Improving Driving in Young People With Autism Spectrum Disorders Completed NCT03538431 Phase 4 Buspirone
7 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
8 Oxytocin-based Pharmacotherapy for Autism Spectrum Disorders: Investigating the Neural and Behavioral Effects of a Promising Intervention Approach Completed NCT02940574 Phase 4 Syntocinon (Oxytocin)
9 Multisite Study: Acquisition of Social Skills in Children With Autism Using Video Modeling in Parental Training Completed NCT02235467 Phase 4
10 Quillivant XR in Children With Attention Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD): A Pilot Study Completed NCT02255565 Phase 4 Very Low Dose Quillivant XR;Low Dose Quillivant XR;Moderate Dose Quillivant XR
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 A Randomized, Double-blind Comparison of Atomoxetine Hydrochloride and Placebo for Symptoms of Attention-Deficit/Hyperactivity Disorder in Children and Adolescents With Autism Spectrum Disorder Completed NCT00380692 Phase 4 Atomoxetine;Placebo
13 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
14 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
15 A Multi-Center, Open Label, Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder Recruiting NCT03337646 Phase 4 Lisdexamfetamine Dimesylate
16 Connecting the Dots: An RCT Integrating Standardized ASD Screening, High-Quality Treatment, and Long-Term Outcomes Enrolling by invitation NCT03333629 Phase 4
17 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
18 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
19 Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders Completed NCT01302964 Phase 3 Placebo;Mirtazapine
20 Pharmacotherapy of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
21 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
22 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
23 Cognitive-Behavioral Treatment for Anxiety Disorders in Children With Autism Spectrum Disorders Completed NCT01178385 Phase 2, Phase 3
24 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
25 Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) Completed NCT01825798 Phase 3 Metformin;Placebo
26 2/3 Treatment of Anxiety in Autism Spectrum Disorder Completed NCT02028247 Phase 3
27 An Examination of Changes in Urinary Metabolites With Use of Folinic Acid in Children With Autism Spectrum Disorder (ASD) Completed NCT03771560 Phase 2, Phase 3 folinic acid
28 Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder Completed NCT01972074 Phase 3 Memantine
29 Testing a Novel Speech Intervention in Minimally Verbal Children With Autism Spectrum Disorder (ASD) Completed NCT03015272 Phase 2, Phase 3
30 To Mirror or Not to Mirror Upon Perceived Eye Contact? The Effect of Oxytocin on Socially Adaptive Mirror System Functioning in Autism Completed NCT03640156 Phase 3 Oxytocin
31 A Multidisciplinary Approach to the Treatment of Encopresis in Children With Autism Spectrum Disorders Recruiting NCT03197922 Phase 3
32 A Phase 3, Multicenter, Randomized, Double-blind, Placebo Controlled Trial of Brexpiprazole in Treatment of Children and Adolescents With Irritability Associated With Autism Spectrum Disorder Recruiting NCT04174365 Phase 3 Brexpiprazole;Placebo
33 Role of Bumetanide in Treatment of Autism Spectrum Disorder in Children Recruiting NCT04766177 Phase 3 Bumetanide;Placebo
34 Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. A 6-month Randomised, Double-blind, Placebo Controlled Multicentre Parallel Group Study to Evaluate Efficacy and Safety of Bumetanide 0.5mg Twice a Day Followed by an Open Label Active 6-month Treatment Period With Bumetanide (0.5mg Twice a Day) and a 6 Weeks Discontinuation Period After Treatment Stop. Active, not recruiting NCT03715153 Phase 3 BUMETANIDE/S95008;PLACEBO
35 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
36 A 6-month Randomised, Double-blind, Placebo Controlled Multicentre Parallel Group Study to Evaluate Efficacy and Safety of Bumetanide 0.5mg Twice a Day Followed by an Open Label Active 6-month Treatment Period With Bumetanide (0.5mg Twice a Day) and a 6 Weeks Discontinuation Period After Treatment Stop. Active, not recruiting NCT03715166 Phase 3 Bumetanide Oral Solution;Placebo
37 A Phase 3, Multicenter, Open Label Trial to Evaluate the Long-term Safety and Tolerability of Brexpiprazole in Treatment of Children and Adolescents With Irritability Associated With Autism Spectrum Disorder Enrolling by invitation NCT04258839 Phase 3 Brexpiprazole
38 Amitriptyline for Repetitive Behaviors in Children and Adolescents With Autism Spectrum Disorders Not yet recruiting NCT04725383 Phase 3 amitriptyline
39 Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency): Pilot Study. Not yet recruiting NCT04623398 Phase 3 Lithium Carbonate;Placebo
40 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)
41 Oxytocin in Adolescents With Autism Spectrum Disorders Terminated NCT02007447 Phase 2, Phase 3 OCYTOCINA - SPRAY NASAL
42 A Phase III, Randomized, Double-Blind, Placebo-Controlled, Efficacy, and Safety Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension Terminated NCT03504917 Phase 3 Balovaptan;Placebo
43 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
44 A Randomized, Placebo Controlled Study to Investigate the Efficacy and Safety of Slenyto® to Alleviate Sleep Disturbances in Children With Autism Spectrum Disorder Withdrawn NCT04233502 Phase 3 Melatonin;Placebo
45 Randomized Double-Blind Trial of Low-Dose Naltrexone for Children With PDD Unknown status NCT00318162 Phase 1, Phase 2 low dose naltrexone
46 Evaluation of the Efficiency of Folinic Acid in Children With Autism Spectrum Disorders: a Pilot Study "EFFET" Unknown status NCT02551380 Phase 2 FOLINORAL
47 Autologous Bone Marrow Stem Cells for Children With Autism Spectrum Disorders Unknown status NCT01740869 Phase 1, Phase 2
48 Examine the Effect of Repetitive Transcranial Magnetic Stimulation (rTMS) Over the Symptoms of Autism Spectrum Disorder Unknown status NCT01918787 Phase 1, Phase 2
49 An Open Label Study of Aripiprazole in Children and Adolescents With Autism Spectrum Disorders Completed NCT00619190 Phase 2 aripiprazole
50 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)

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:

40
Eye, Brain, Bone Marrow, Bone, Cortex, Amygdala, Cerebellum
Sources

Publications for Pervasive Developmental Disorder

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Articles related to Pervasive Developmental Disorder:

(show top 50) (show all 1974)
# 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. 61 54
19189931 2009
2
[Autism, epilepsy and genetics]. 54 61
18302128 2008
3
Serotonin transporter intron 2 polymorphism associated with rigid-compulsive behaviors in Dutch individuals with pervasive developmental disorder. 61 54
15635668 2005
4
Secretin is an ineffective treatment for pervasive developmental disabilities: a review of 15 double-blind randomized controlled trials. 61 54
15590241 2005
5
Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders. 61 54
14734626 2004
6
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. 54 61
14963808 2004
7
Absence of MeCP2 mutations in patients from the South Carolina autism project. 61 54
12555243 2003
8
Minor form of trigonocephaly is an autistic skull shape? A suggestion based on homeobox gene variants and MECP2 mutations. 54 61
12027529 2002
9
Pervasive developmental disorders and GABAergic system in patients with inverted duplicated chromosome 15. 54 61
11785506 2001
10
[Age at diagnosis of Autism Spectrum Disorder depending on ethno-cultural background or migratory status: A systematic literature review]. 61
33051084 2021
11
Assessment of Peripheral Blood Lymphocytes in Parents of Autistic Children by Cytokinesis Block Micronucleus Assay. 61
33751343 2021
12
The Comorbidity of Schizophrenia Spectrum and Mood Disorders in Autism Spectrum Disorder. 61
33615712 2021
13
Critical role of dysfunctional mitochondria and defective mitophagy in autism spectrum disorders. 61
33400955 2021
14
What is autism? 61
33694100 2021
15
Social-communicative gestures at baseline predict verbal and nonverbal gains for children with autism receiving the Early Start Denver Model. 61
33779336 2021
16
Editorial: Analyzing Treatment and Prescribing in Large Administrative Datasets With a Lens on Equity. 61
33359220 2021
17
[Validity of the Scale of Pervasive Developmental Disorder in a Clinical Sample of Adults with Intellectual Disability]. 61
32659791 2021
18
Clinical features of behavioral symptoms in patients with semantic dementia: Does semantic dementia cause autistic traits? 61
33600474 2021
19
Descriptive study of young disabled children aged 2-6, enrolled in mainstream schools, and benefiting from special needs assistants in the Bouches-du-Rhône in 2014. 61
33309119 2021
20
Prevalence of Ophthalmologic Diagnoses in Children With Autism Spectrum Disorder Using the Optum Dataset: APopulation-Based Study. 61
32896499 2021
21
Interpretable Machine Learning Reveals Dissimilarities Between Subtypes of Autism Spectrum Disorder. 61
33719335 2021
22
Clinical Relevance of Methylenetetrahydrofolate Reductase Genetic Testing in Autism: A Case Report of Successful Clinical Outcome. 61
33577628 2021
23
Isolated oligohydramnios and long-term neurological morbidity of the offspring. 61
31755400 2020
24
A robust DWT-CNN-based CAD system for early diagnosis of autism using task-based fMRI. 61
33378589 2020
25
[From pervasive developmental disorder in ICD-10 to Autism Spectrum Disorder in ICD-11]. 61
33269947 2020
26
Autistic traits and cognitive profiles of treatment-resistant schizophrenia. 61
32760657 2020
27
Long-term physical and neurodevelopmental outcomes after antenatal betamethasone administration for congenital heart block prevention. 61
33207991 2020
28
Applying Artificial Intelligence for Diagnostic Classification of Korean Autism Spectrum Disorder. 61
33099989 2020
29
Common and unique multimodal covarying patterns in autism spectrum disorder subtypes. 61
33208189 2020
30
Fatty Acid Supplementation and Socioemotional Outcomes: Secondary Analysis of a Randomized Trial. 61
32887793 2020
31
Trends in Antipsychotic Medication Use in Young Privately Insured Children. 61
33091567 2020
32
Significant associations between 5-hydroxytryptaminetransporter-linked promoter region polymorphisms of the serotonin transporter (solute carrier family 6 member 4) gene and Thai patients with autism spectrum disorder. 61
32899028 2020
33
Diagnostic trajectories in child and adolescent mental health services: exploring the prevalence and patterns of diagnostic adjustments in an electronic mental health case register. 61
31679098 2020
34
Mental disorders in referred 0-3-year-old children: a population-based study of incidence, comorbidity and perinatal risk factors. 61
32815033 2020
35
What exactly is catatonia in children and adolescents. 61
33386726 2020
36
Adult Manifestation of Milder Forms of Autism Spectrum Disorder; Autistic and Non-autistic Psychopathology. 61
32052317 2020
37
Gabapentin-induced bilateral lower extremity edema in a patient with pervasive developmental disorder and schizoaffective disorder. 61
32685337 2020
38
Psychiatric Symptoms as the First or Solitary Manifestation of Somatic Illnesses: Hyperammonaemia Type II. 61
32688360 2020
39
A Phase II Randomized Clinical Trial of the Safety and Efficacy of Intravenous Umbilical Cord Blood Infusion for Treatment of Children with Autism Spectrum Disorder. 61
32444220 2020
40
Risk of early neurodevelopmental outcomes associated with prenatal exposure to the antiepileptic drugs most commonly used during pregnancy: a French nationwide population-based cohort study. 61
32513880 2020
41
Temporal trends in incidence of Rolandic epilepsy, prevalence of comorbidities and prescribing trends: birth cohort study. 61
31937568 2020
42
How has DSM-5 Affected Autism Diagnosis? A 5-Year Follow-Up Systematic Literature Review and Meta-analysis. 61
30852784 2020
43
A new machine learning model based on induction of rules for autism detection. 61
30693818 2020
44
Whatever happened to multiple complex developmental disorder? 61
33061748 2020
45
EFFECTS OF SENSORY INTEGRATION THERAPY ON SELECTED FITNESS SKILLS IN AUTISTIC CHILDREN. 61
33055322 2020
46
A Susceptible Period of Photic Day-Night Rhythm Loss in Common Marmoset Social Behavior Development. 61
33603653 2020
47
[Screening of the risk of mental and developmental disorders in children of early age in the Russian population (2017-2019)]. 61
33340302 2020
48
Evaluation of Autism Spectrum Disorder in Early Childhood According to the DSM-5 Diagnostic Criteria. 61
32594498 2020
49
Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy. 61
31708335 2019
50
The yield of structural magnetic resonance imaging in autism spectrum disorders. 61
30546152 2019
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Variations for Pervasive Developmental Disorder

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ClinVar genetic disease variations for Pervasive Developmental Disorder:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UBE4A NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs) Deletion Likely pathogenic 617553 rs1565532385 GRCh37: 11:118245679-118245680
GRCh38: 11:118374964-118374965
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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 65
Show member pathways
 11.95 SLC6A4 SHANK2 NLGN4X NLGN3 KCND2 GABRB3
3
Protein-protein interactions at synapses 65
Show member pathways
 11.55 SHANK2 NLGN4X NLGN3
4
Serotonergic synapse 36
11.19 SLC6A4 KCND2 GABRB3
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GO Terms for Pervasive Developmental Disorder

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

# Name GO ID Score Top Affiliating Genes
1 postsynaptic membrane GO:0045211 9.67 SHANK2 NLGN4X KCND2 GABRB3
2 postsynapse GO:0098794 9.61 NLGN3 MECP2 EIF4E
3 cell junction GO:0030054 9.56 SLC6A4 SHANK2 NLGN4X NLGN3 KCND2 GABRB3
4 integral component of postsynaptic membrane GO:0099055 9.43 SLC6A4 NLGN3 KCND2
5 spanning component of membrane GO:0089717 9.4 NLGN4X NLGN3
6 asymmetric, glutamatergic, excitatory synapse GO:0098985 9.32 NLGN4X NLGN3
7 synapse GO:0045202 9.23 SLC6A4 SHANK2 PTCHD1 NLGN4X NLGN3 MECP2
8 symmetric, GABA-ergic, inhibitory synapse GO:0098983 9.16 NLGN4X NLGN3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.8 PTCHD1 NLGN4X NLGN3 MECP2 KCND2 GABRB3
2 brain development GO:0007420 9.77 SLC6A4 SCT MECP2 CNTNAP2 CHD8
3 synapse assembly GO:0007416 9.61 SHANK2 NLGN3 MECP2
4 synapse organization GO:0050808 9.58 NLGN4X NLGN3 CTNND2
5 brain morphogenesis GO:0048854 9.57 SLC6A4 SHANK2
6 dendritic spine morphogenesis GO:0060997 9.56 SHANK2 CTNND2
7 adult behavior GO:0030534 9.56 SHANK2 NLGN4X NLGN3 CNTNAP2
8 neuron cell-cell adhesion GO:0007158 9.55 NLGN4X NLGN3
9 learning GO:0007612 9.55 SHANK2 NLGN4X NLGN3 MECP2 CNTNAP2
10 presynapse assembly GO:0099054 9.54 NLGN4X NLGN3
11 startle response GO:0001964 9.52 MECP2 CHD8
12 thalamus development GO:0021794 9.51 PTCHD1 CNTNAP2
13 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.49 NLGN3 MECP2
14 presynaptic membrane assembly GO:0097105 9.48 NLGN4X NLGN3
15 postsynaptic membrane assembly GO:0097104 9.46 NLGN4X NLGN3
16 social behavior GO:0035176 9.28 TBX1 SLC6A4 SHANK2 PTCHD1 NLGN4X NLGN3
17 vocalization behavior GO:0071625 9.26 SHANK2 NLGN4X NLGN3 CNTNAP2

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

# Name GO ID Score Top Affiliating Genes
1 neurexin family protein binding GO:0042043 8.62 NLGN4X NLGN3
Sources

Sources for Pervasive Developmental Disorder

About this section
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
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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