Pervasive Developmental Disorder disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRV006 MIFTS: 53	Pervasive Developmental Disorder Categories: Mental diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Mental diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Mental and behavioural disorders

Disorders of psychological development

Pervasive developmental disorders

Pervasive developmental disorder, unspecified

External Ids:

Disease Ontology ¹¹ DOID:0060040

ICD9CM ³⁴ 299.80

ICD10 ³¹ F84 F84.9

UMLS ⁷¹ C0154451 C0524528 C0856975 more

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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...

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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
4	autism	32.7	TMLHE SLC9A9 SLC6A4 SHANK2 PTCHD1 NLGN4X
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:

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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:

⁴⁵

#	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

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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

Immunologic Factors

Phase 4

Immunoglobulins, Intravenous

Phase 4

Immunoglobulins

Phase 4

Antibodies

Phase 4

gamma-Globulins

Phase 4

Rho(D) Immune Globulin

Phase 4

Antipsychotic Agents

Phase 4

Dopamine Antagonists

Phase 4

Dopamine Agents

Phase 4

Antiparkinson Agents

Phase 4

Excitatory Amino Acid Antagonists

Phase 4

Adrenergic alpha-Agonists

Phase 4

Adrenergic Agonists

Phase 4

Dopamine agonists

Phase 4

Antidepressive Agents

Phase 4

Serotonin 5-HT1 Receptor Agonists

Phase 4

Pharmaceutical Solutions

Phase 4

Hypoglycemic Agents

Phase 4

Vitamins

Phase 4

Trace Elements

Phase 4

Micronutrients

Phase 4

Anti-Infective Agents

Phase 4

Antiviral Agents

Phase 4

Expectorants

Phase 4

Antidotes

Phase 4

N-monoacetylcystine

Phase 4

Respiratory System Agents

Phase 4

Folate

Phase 4

Vitamin B9

Phase 4

Vitamin B Complex

Phase 4

Antioxidants

Phase 4

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

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

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Genetic Tests for Pervasive Developmental Disorder

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Anatomical Context for Pervasive Developmental Disorder

Organs/tissues related to Pervasive Developmental Disorder:

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

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Publications for Pervasive Developmental Disorder

Articles related to Pervasive Developmental Disorder:

(show top 50) (show all 2042)

#	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. ⁵³ ⁶²	Parmeggiani A...Sangiorgi S	19189931	2009
2	[Autism, epilepsy and genetics]. ⁵³ ⁶²	Munoz-Yunta JA...Manchado F	18302128	2008
3	Serotonin transporter intron 2 polymorphism associated with rigid-compulsive behaviors in Dutch individuals with pervasive developmental disorder. ⁵³ ⁶²	Mulder EJ...Minderaa RB	15635668	2005
4	Secretin is an ineffective treatment for pervasive developmental disabilities: a review of 15 double-blind randomized controlled trials. ⁵³ ⁶²	Sturmey P	15590241	2005
5	X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. ⁵³ ⁶²	Laumonnier F...Briault S	14963808	2004
6	Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders. ⁵³ ⁶²	Samaco RC...LaSalle JM	14734626	2004
7	Absence of MeCP2 mutations in patients from the South Carolina autism project. ⁵³ ⁶²	Lobo-Menendez F...Michaelis RC	12555243	2003
8	Minor form of trigonocephaly is an autistic skull shape? A suggestion based on homeobox gene variants and MECP2 mutations. ⁵³ ⁶²	Ijichi S...Ijichi N	12027529	2002
9	Pervasive developmental disorders and GABAergic system in patients with inverted duplicated chromosome 15. ⁵³ ⁶²	Borgatti R...Ferrarese C	11785506	2001
10	Using developmental regression to reorganize the clinical importance of autistic atypicalities. ⁶²	Gagnon D...Mottron L	36456542	2022
11	Long-term physical and neurodevelopmental outcomes after antenatal betamethasone administration for congenital heart block prevention. ⁶²	Wada YS...Murashima A	33207991	2022
12	Disrupted network integration and segregation involving the default mode network in autism spectrum disorder. ⁶²	Yang B...Dong GH	36455716	2022
13	Aggressive challenging behavior in adults with intellectual disability: An electronic register-based cohort study of clinical outcome and service use. ⁶²	Smith J...Strydom A	36321353	2022
14	Assessing The Dangers Of A Hospital Stay For Patients With Developmental Disability In England, 2017-19. ⁶²	Friebel R...Maynou L	36190892	2022
15	Bioinformatics analysis of genomic and immune infiltration patterns in autism spectrum disorder. ⁶²	Wei RQ...Xu JW	36267781	2022
16	Early-onset of social communication and locomotion activity in F2 pups of a valproic acid-induced mouse model of autism. ⁶²	Tsuji C...Tsuji T	35944594	2022
17	Associations Between Maternal Antenatal Corticosteroid Treatment and Psychological Developmental and Neurosensory Disorders in Children. ⁶²	Raikkonen K...Kajantie E	36001315	2022
18	Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method. ⁶²	Friedlander L...Garcelon N	35987771	2022
19	Ophthalmologic Manifestations in Autism Spectrum Disorder. ⁶²	Gutierrez C...de Liano PG	36016969	2022
20	Human Umbilical Cord Blood Infusions in the Management of Autism Spectrum Disorder. ⁶²	Adnan M...Jain S	35666592	2022
21	Improvement of the Clinical and Psychological Profile of Patients with Autism after Methylcobalamin Syrup Administration. ⁶²	Corejova A...Hrabovska A	35631176	2022
22	Relationship Between Sensory Processing and Autism Spectrum Disorder-Like Behaviors in Prader-Willi Syndrome. ⁶²	Saima S...Nagai T	35443050	2022
23	A randomized double-blind, placebo-controlled pilot trial of mirtazapine for anxiety in children and adolescents with autism spectrum disorder. ⁶²	McDougle CJ...Posey DJ	35241779	2022
24	Association of mental disorders and strabismus among South Korean children and adolescents: a nationwide population-based study. ⁶²	Choi DD...Oh SY	34698906	2022
25	Screening for autism spectrum disorder in deaf adults with intellectual disability: Feasibility and accuracy of two autism screening instruments. ⁶²	Hofer J...Holzinger D	34998116	2022
26	Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. ⁶²	Hu X...Smolarek TA	35248119	2022
27	Insomnia in Tourette Syndrome and Chronic Tic Disorder. ⁶²	Isomura K...Fernandez de la Cruz L	34693569	2022
28	Analysis of Cytogenetic Abnormalities in Iranian Patients with Syndromic Autism Spectrum Disorder: A Case Series. ⁶²	Ghasemi MR...Miryounesi M	35497098	2022
29	Dysregulated gene expression associated with inflammatory and translation pathways in activated monocytes from children with autism spectrum disorder. ⁶²	Hughes HK...Ashwood P	35082275	2022
30	Comprehensive Intervention and Effect of Martial Arts Routines on Children with Autism. ⁶²	Li L...Xu S	36089974	2022
31	Evaluation and Analysis of the Intervention Effect of Systematic Parent Training Based on Computational Intelligence on Child Autism. ⁶²	He X...Ouyang Y	35720038	2022
32	Assessment of Peripheral Blood Lymphocytes in Parents of Autistic Children by Cytokinesis Block Micronucleus Assay. ⁶²	Moeinian P...Akouchekian M	33751343	2021
33	All-cause and cause-specific mortality in people with mental disorders and intellectual disabilities, before and during the COVID-19 pandemic: cohort study. ⁶²	Das-Munshi J...Stewart R	34877563	2021
34	IQ in Autism Spectrum Disorder: A Population-Based Birth Cohort Study. ⁶²	Katusic MZ...Voigt RG	34851412	2021
35	Assessing Ease of Delivering Emergency Care for Patients with Autism Spectrum Disorders. ⁶²	Kouo T...Ryan L	34016829	2021
36	Validity of claims-based algorithms to identify neurodevelopmental disorders in children. ⁶²	Straub L...Huybrechts KF	34623720	2021
37	Atypical cortical activation during fine motor tasks in autism spectrum disorder. ⁶²	Suzumura N...Funabiki Y	33932550	2021
38	Emotional Rational Education Training Associated with Mindfulness for Managing Anxiety within Adolescents Affected by High-Functioning Autism: A Descriptive Study. ⁶²	Frolli A...Carotenuto M	34821617	2021
39	[From pervasive developmental disorders in ICD-10 to Autism Spectrum Disorder in ICD-11]. ⁶²	Freitag CM	33269947	2021
40	What is autism? ⁶²	Joon P...Parle M	33694100	2021
41	Identification of Autism Subtypes Based on Wavelet Coherence of BOLD FMRI Signals Using Convolutional Neural Network. ⁶²	Al-Hiyali MI...Hussein AF	34450699	2021
42	Social-communicative gestures at baseline predict verbal and nonverbal gains for children with autism receiving the Early Start Denver Model. ⁶²	Laister D...Holzinger D	33779336	2021
43	Mental disorders in referred 0-3-year-old children: a population-based study of incidence, comorbidity and perinatal risk factors. ⁶²	Koch SV...Skovgaard AM	32815033	2021
44	Editorial: Analyzing Treatment and Prescribing in Large Administrative Datasets With a Lens on Equity. ⁶²	Karnik NS...Novins DK	33359220	2021
45	Trends in Antipsychotic Medication Use in Young Privately Insured Children. ⁶²	Bushnell GA...Olfson M	33091567	2021
46	Informant (Dis)Agreement on Ratings of Challenging Behaviors and Social Communication in Preschool Children With Autism Spectrum Disorder. ⁶²	Reetzke R...Landa R	34048667	2021
47	Association of digital media exposure and addiction with child development and behavior: A cross-sectional study. ⁶²	Anitha FS...Tamilselvan P	35017810	2021
48	Rates of Neuropsychiatric Disorders and Gestational Age at Birth in a Danish Population. ⁶²	Xia Y...Liew Z	34185070	2021
49	Assessment of Educational Attainment and Employment Among Individuals With Autism Spectrum Disorder in Denmark. ⁶²	Toft G...Ehrenstein V	33818591	2021
50	A robust DWT-CNN-based CAD system for early diagnosis of autism using task-based fMRI. ⁶²	Haweel R...El-Baz A	33378589	2021

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Genes for Pervasive Developmental Disorder

Genes related to Pervasive Developmental Disorder (1 elite genes):

(show top 50) (show all 93)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SPTBN1	Spectrin Beta, Non-Erythrocytic 1	Protein Coding	404.84	Pathogenic ⁵ DISEASES inferred ¹⁴
2	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	35.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	12027529 14734626 19189931 (more) 12555243 18302128
3	FBXW7	F-Box And WD Repeat Domain Containing 7	Protein Coding	28.3	Likely pathogenic ⁵ DISEASES inferred ¹⁴
4	UBE4A	Ubiquitination Factor E4A	Protein Coding	25	Likely pathogenic ⁵
5	NLGN4X	Neuroligin 4 X-Linked	Protein Coding	24.04	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	14963808
6	NLGN3	Neuroligin 3	Protein Coding	16.18	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
7	SHANK2	SH3 And Multiple Ankyrin Repeat Domains 2	Protein Coding	16.01	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
8	CNTNAP2	Contactin Associated Protein 2	Protein Coding	15.93	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
9	CHD8	Chromodomain Helicase DNA Binding Protein 8	Protein Coding	15.77	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
10	NLGN1	Neuroligin 1	Protein Coding	15.44	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
11	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3	Protein Coding	14.54	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11785506
12	PTCHD1	Patched Domain Containing 1	Protein Coding	14.53	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
13	SLC9A9	Solute Carrier Family 9 Member A9	Protein Coding	14.24	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
14	EIF4E	Eukaryotic Translation Initiation Factor 4E	Protein Coding	14.02	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
15	TMLHE	Trimethyllysine Hydroxylase, Epsilon	Protein Coding	13.81	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
16	CTNND2	Catenin Delta 2	Protein Coding	13.73	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
17	KCND2	Potassium Voltage-Gated Channel Subfamily D Member 2	Protein Coding	13.66	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
18	FOXP2	Forkhead Box P2	Protein Coding	13.36	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18302128
19	SLC6A4	Solute Carrier Family 6 Member 4	Protein Coding	13.1	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15635668
20	FAN1	FANCD2 And FANCI Associated Nuclease 1	Protein Coding	12.58	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
21	RPL10	Ribosomal Protein L10	Protein Coding	12.19	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
22	PRODH	Proline Dehydrogenase 1	Protein Coding	11.98	DISEASES inferred ¹⁴ ¹⁴
23	SCT	Secretin	Protein Coding	11.84	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15590241
24	KPTN	Kaptin, Actin Binding Protein	Protein Coding	11.77	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
25	H2AC18	H2A Clustered Histone 18	Protein Coding	11.13	DISEASES inferred ¹⁴ ¹⁴
26	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	10.05	DISEASES inferred ¹⁴ ¹⁴
27	MIR132	MicroRNA 132	RNA Gene	9.67	DISEASES inferred ¹⁴ ¹⁴
28	MIR9-1	MicroRNA 9-1	RNA Gene	9.5	DISEASES inferred ¹⁴ ¹⁴
29	KDM4C	Lysine Demethylase 4C	Protein Coding	9.42	DISEASES inferred ¹⁴ ¹⁴
30	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	9.39	DISEASES inferred ¹⁴ ¹⁴
31	FMR1	Fragile X Messenger Ribonucleoprotein 1	Protein Coding	9.33	DISEASES inferred ¹⁴
32	NRXN1	Neurexin 1	Protein Coding	9.08	DISEASES inferred ¹⁴
33	OXT	Oxytocin/Neurophysin I Prepropeptide	Protein Coding	8.93	DISEASES inferred ¹⁴
34	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	8.59	DISEASES inferred ¹⁴
35	PVALB	Parvalbumin	Protein Coding	8.43	DISEASES inferred ¹⁴
36	OXTR	Oxytocin Receptor	Protein Coding	8.42	DISEASES inferred ¹⁴
37	NRXN2	Neurexin 2	Protein Coding	8.41	DISEASES inferred ¹⁴
38	DLG4	Discs Large MAGUK Scaffold Protein 4	Protein Coding	8.39	DISEASES inferred ¹⁴
39	NRXN3	Neurexin 3	Protein Coding	8.38	DISEASES inferred ¹⁴
40	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	8.37	DISEASES inferred ¹⁴
41	UBE3A	Ubiquitin Protein Ligase E3A	Protein Coding	8.19	DISEASES inferred ¹⁴
42	MIR24-1	MicroRNA 24-1	RNA Gene	8.07	DISEASES inferred ¹⁴ ¹⁴
43	DISC1	DISC1 Scaffold Protein	Protein Coding	8.05	DISEASES inferred ¹⁴
44	SHANK1	SH3 And Multiple Ankyrin Repeat Domains 1	Protein Coding	8.02	DISEASES inferred ¹⁴
45	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	7.96	DISEASES inferred ¹⁴
46	FOXG1	Forkhead Box G1	Protein Coding	7.89	DISEASES inferred ¹⁴
47	TSC2	TSC Complex Subunit 2	Protein Coding	7.89	DISEASES inferred ¹⁴
48	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	7.85	DISEASES inferred ¹⁴
49	GRM5	Glutamate Metabotropic Receptor 5	Protein Coding	7.84	DISEASES inferred ¹⁴
50	GAD1	Glutamate Decarboxylase 1	Protein Coding	7.83	DISEASES inferred ¹⁴

Sources

Variations for Pervasive Developmental Disorder

ClinVar genetic disease variations for Pervasive Developmental Disorder:

⁵

#	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

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Expression for Pervasive Developmental Disorder

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

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Pathways for Pervasive Developmental Disorder

Pathways directly related to Pervasive Developmental Disorder:

#	Pathway	Source
1	Pervasive developmental disorders	Reactome ⁶⁶

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

#	Super pathways	Score	Top Affiliating Genes
1	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter receptors and postsynaptic signal transmission ⁶⁶	12.45	SLC6A4 SHANK2 NLGN4X NLGN3 NLGN1 KCND2
2	Neuroscience ³	12.09	SHANK2 MECP2 KCND2 CNTNAP2
3	Ectoderm differentiation ⁷⁴	11.7	NLGN1 MECP2 CTNND2
4	Protein-protein interactions at synapses ⁶⁶ Show member pathways Neurexins and neuroligins ⁶⁶ Receptor-type tyrosine-protein phosphatases ⁶⁶	11.66	SHANK2 NLGN4X NLGN3 NLGN1
5	Fragile X syndrome ⁷⁴ Show member pathways Pilocytic astrocytoma ⁷⁴	11.59	MECP2 KCND2 EIF4E
6	Disruption of postsynaptic signaling by CNV ⁷⁴	10.03	NLGN4X NLGN3 NLGN1

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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