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MCID: CHL012
MIFTS: 44

Childhood Disintegrative Disease

Categories: Mental diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Childhood Disintegrative Disease

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MalaCards integrated aliases for Childhood Disintegrative Disease:

Name: Childhood Disintegrative Disease 12 15
Childhood Disintegrative Disorder 74 52 58 71
Disintegrative Psychosis 12
Shared Paranoid Disorder 71
Symbiotic Psychosis 12
Dementia Infantilis 58
Heller's Syndrome 12
Heller Syndrome 58

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:13487
ICD9CM 34 299.1
NCIt 49 C97164
SNOMED-CT 67 71961003
ICD10 32 F84.3
ICD10 via Orphanet 33 F84.3
UMLS via Orphanet 72 C0236791
Orphanet 58 ORPHA168782
UMLS 71 C0036939 C0236791
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Summaries for Childhood Disintegrative Disease

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Disease Ontology : 12 A pervasive developmental disorder that is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress.

MalaCards based summary : Childhood Disintegrative Disease, also known as childhood disintegrative disorder, is related to autism spectrum disorder and asperger syndrome. An important gene associated with Childhood Disintegrative Disease is TOR3A (Torsin Family 3 Member A), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cell adhesion molecules (CAMs). The drugs Cinnarizine and Histamine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are abnormal emotion/affect behavior and progressive language deterioration

Wikipedia : 74 Childhood disintegrative disorder (CDD), also known as Heller's syndrome and disintegrative psychosis,... more...

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Related Diseases for Childhood Disintegrative Disease

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Diseases related to Childhood Disintegrative Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 30.0 SHANK2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3
2 asperger syndrome 27.3 TOR3A SHANK2 NRXN3 NRXN2 NRXN1 NLGN4X
3 autism 26.3 SHANK2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3
4 pervasive developmental disorder 24.5 TOR3A SHANK2 NRXN3 NRXN2 NRXN1 NLGN4X
5 rare pervasive developmental disorder 10.9
6 pitt-hopkins-like syndrome 10.4 NRXN1 CNTNAP2
7 landau-kleffner syndrome 10.2 MECP2 CNTNAP2
8 pitt-hopkins syndrome 10.2 NRXN1 MECP2 CNTNAP2
9 pitt-hopkins-like syndrome 2 10.2 NRXN3 NRXN1 NLGN4X
10 valproate embryopathy 10.1 NLGN3 NLGN1 MECP2
11 rett syndrome 10.1
12 aphasia 10.1
13 apraxia 10.1
14 gait apraxia 10.1
15 potocki-lupski syndrome 10.1 NRXN1 NLGN4X NLGN3 MECP2
16 specific language impairment 10.1 TOR3A NRXN1 NLGN4X CNTNAP2
17 lubs x-linked mental retardation syndrome 10.1 NLGN3 MECP2 BDNF
18 ritscher-schinzel syndrome 2 10.1 NLGN4X NLGN2
19 dementia 10.0
20 cerebral atrophy 10.0
21 anterograde amnesia 10.0 CNTNAP2 BDNF
22 epileptic encephalopathy, early infantile, 6 10.0 MECP2 GABRB3 CNTNAP2
23 chromosomal deletion syndrome 9.9 SHANK2 NRXN1 MECP2
24 x-linked monogenic disease 9.9 NLGN4X NLGN3 MECP2 BDNF
25 tay-sachs disease 9.9
26 homocysteinemia 9.9
27 alacrima, achalasia, and mental retardation syndrome 9.9
28 developmental delay with or without dysmorphic facies and autism 9.9
29 vitamin b12 deficiency 9.9
30 physical disorder 9.9
31 gm2 gangliosidosis 9.9
32 mutism 9.9
33 encephalitis 9.9
34 gangliosidosis 9.9
35 seizure disorder 9.9
36 early-onset schizophrenia 9.9
37 disease of mental health 9.9 TOR3A NRXN1 MECP2 BDNF
38 angelman syndrome 9.9 NRXN1 NLGN3 MECP2 GABRB3
39 speech and communication disorders 9.9 TOR3A MECP2 CNTNAP2 BDNF
40 west syndrome 9.9 NRXN1 MECP2 GABRB3 CNTNAP2
41 gilles de la tourette syndrome 9.9 NRXN1 NLGN4X CNTNAP2 BDNF
42 early infantile epileptic encephalopathy 9.8 NRXN1 MECP2 GABRB3 CNTNAP2
43 tobacco addiction 9.8 NRXN3 NRXN1 BDNF
44 neurotic disorder 9.8 MFSD8 BDNF
45 post-traumatic stress disorder 9.7 NLGN1 GABRB3 BDNF
46 tic disorder 9.7 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 CNTNAP2
47 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 9.6 MFSD8 DLGAP2
48 benign epilepsy with centrotemporal spikes 9.6 MECP2 GABRB3 CNTNAP2 CDH9 BDNF
49 obsessive-compulsive disorder 9.5 DLGAP2 CNTNAP2 CDH10 BDNF
50 specific developmental disorder 9.4 TOR3A NRXN1 NLGN4X NLGN3 MECP2 CNTNAP2

Graphical network of the top 20 diseases related to Childhood Disintegrative Disease:



Diseases related to Childhood Disintegrative Disease
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Symptoms & Phenotypes for Childhood Disintegrative Disease

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Human phenotypes related to Childhood Disintegrative Disease:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal emotion/affect behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0100851
2 progressive language deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0007064
3 stereotypy 58 31 frequent (33%) Frequent (79-30%) HP:0000733
4 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
5 bowel incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0002607
6 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
7 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
8 impaired social interactions 58 31 frequent (33%) Frequent (79-30%) HP:0000735
9 social and occupational deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0007086
10 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
11 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
12 motor deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002333
13 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
14 seizure 31 very rare (1%) HP:0001250
15 seizures 58 Very rare (<4-1%)
16 mental deterioration 58 Very frequent (99-80%)
17 autistic behavior 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Childhood Disintegrative Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ATG4C BDNF CNTNAP2 DLGAP2 GABRB3 MECP2
2 nervous system MP:0003631 9.77 BDNF CDH9 CNTNAP2 DLGAP2 GABRB3 MECP2
3 respiratory system MP:0005388 9.17 BDNF MECP2 NLGN1 NLGN2 NLGN3 NRXN1
Sources

Drugs & Therapeutics for Childhood Disintegrative Disease

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Drugs for Childhood Disintegrative Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cinnarizine Approved, Investigational Phase 4 298-57-7 1547484 2761
2
Histamine Approved, Investigational Phase 4 51-45-6 774
3
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
4
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
5
Haloperidol Approved Phase 4 52-86-8 3559
6
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
7
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
8
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
9
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 59-43-8, 70-16-6 1130
10
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
11 Psychotropic Drugs Phase 4
12 Neurotransmitter Agents Phase 4
13 Trace Elements Phase 4
14 Micronutrients Phase 4
15 Vitamins Phase 4
16 Gastrointestinal Agents Phase 4
17 Anesthetics Phase 4
18 Hypnotics and Sedatives Phase 4
19 Thiamin Phase 4
20 Vitamin B Complex Phase 4
21 Hormones Phase 4
22 Histamine Antagonists Phase 4
23 Anti-Anxiety Agents Phase 4
24 Antiemetics Phase 4
25 Anesthetics, General Phase 4
26
Histamine Phosphate Phase 4 51-74-1 65513
27 Histamine H1 Antagonists Phase 4
28 Folate Phase 4
29 GABA Modulators Phase 4
30 Nutrients Phase 4
31 Anesthetics, Intravenous Phase 4
32 Haloperidol decanoate Phase 4
33 Anticonvulsants Phase 4
34 Calcium, Dietary Phase 4
35 Vitamin B9 Phase 4
36 calcium channel blockers Phase 4
37 Adrenergic alpha-Agonists Phase 4
38 Excitatory Amino Acid Antagonists Phase 4
39 Adrenergic Agents Phase 4
40 Analgesics, Non-Narcotic Phase 4
41 Analgesics Phase 4
42 N-Methylaspartate Phase 4
43 Anesthetics, Dissociative Phase 4
44 Adrenergic Agonists Phase 4
45
Calcium Nutraceutical Phase 4 7440-70-2 271
46
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
47
Aripiprazole Approved, Investigational Phase 2, Phase 3 129722-12-9 60795
48 Dopamine agonists Phase 2, Phase 3
49 Dopamine Antagonists Phase 2, Phase 3
50 Antidepressive Agents Phase 2, Phase 3

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Therapeutic Effect Between Quetiapine and Haloperidol on the Treatment of Methamphetamine - Induced Psychosis Completed NCT01939093 Phase 4 Diazepam;Stugeron
2 Prevention of NMDA Antagonist-induced Psychosis and Memory Impairment in Children Completed NCT00205712 Phase 4 Ketamine;Dexmedetomidine
3 Substance Misuse To Psychosis for Stimulants (SToP-S)--An Early Assertive Pharmacotherapy Intervention Study Recruiting NCT03485417 Phase 2, Phase 3 Aripiprazole;Paliperidone
4 The Pharmaco-genetic and Brain Mechanisms Associated With Cannabis- Induced Psychosis Unknown status NCT01565174
5 Multicentric Descriptive Cross-sectional Study Evaluating Cocaine Users in Treatment Center Completed NCT01569347
6 Advanced Grandparental Age as a Risk Factor for Autism and Other Pervasive Developmental Disorders Completed NCT00464477
7 Effectiveness of Intensive Lifestyle Interventions in the Management of Diabetes in Individuals With Psychosis Completed NCT01828931
8 Understanding Caregiver Adaptation to Pervasive Developmental Disorders Completed NCT00496210
9 Prevention of Weight Gain in Early Psychoses Completed NCT01075295
10 ED to EPI: Using SMS (Text) Messaging to Improve the Transition From the Emergency Department to Early Psychosis Intervention for Young People With Psychosis Not yet recruiting NCT04298450
11 Parenting a Child With Autism Spectrum Disorder and Marital Status Suspended NCT01435733
12 Longitudinal and Biological Study of Childhood Disintegrative Disorder Terminated NCT00004458
13 What Factors Effect Parental Satisfaction During Their Visit to a Pediatric Emergency Department Among Parents of Children With Autism? Terminated NCT02675933

Search NIH Clinical Center for Childhood Disintegrative Disease

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Genetic Tests for Childhood Disintegrative Disease

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Anatomical Context for Childhood Disintegrative Disease

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MalaCards organs/tissues related to Childhood Disintegrative Disease:

40
Brain
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Publications for Childhood Disintegrative Disease

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Articles related to Childhood Disintegrative Disease:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Childhood disintegrative disorder and autism spectrum disorder: a systematic review. 61
30548847 2019
2
Childhood disintegrative disorder: part of the autism spectrum? 61
30740653 2019
3
Two cases of variant late infantile ceroid lipofuscinosis in Jordan. 61
30705896 2019
4
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. 61
30424743 2018
5
Identification of the Genetic Cause for Childhood Disintegrative Disorder by Whole-Exome Sequencing. 61
28283807 2017
6
Neurogenetic analysis of childhood disintegrative disorder. 61
28392909 2017
7
Autism Spectrum Disorder: Primary Care Principles. 61
28075089 2016
8
Trauma and Violence in Autism. 61
27236175 2016
9
CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder. 61
26286102 2016
10
Childhood Disintegrative Disorder as a Complication of Chicken Pox. 61
27011406 2016
11
Childhood disintegrative disorder with seasonal total mutism: A rare clinical presentation. 61
27069898 2016
12
Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder. 61
26489495 2015
13
Approach to autism spectrum disorder: Using the new DSM-V diagnostic criteria and the CanMEDS-FM framework. 61
25971758 2015
14
Childhood disintegrative disorder: a case report. 61
26211118 2015
15
Psychosocial short stature with psychosis: a case report. 61
25520002 2015
16
[A late debut of childhood disintegrative disorder]. 61
25613094 2015
17
Recent update of autism spectrum disorders. 61
25729393 2015
18
A new structured interview for children with autism spectrum disorder based on the DSM-IV. 61
25518287 2014
19
[Autism spectrum disorders - epidemiology, symptoms, comorbidity and diagnosis]. 61
25314794 2014
20
Childhood disintegrative disorder: distinction from autistic disorder and predictors of outcome. 61
23340080 2013
21
Brief report: childhood disintegrative disorder as a likely manifestation of vitamin B12 deficiency. 61
23334842 2013
22
Autism, an overwhelming condition: history, etiopathogenesis, types, diagnosis, therapy and prognosis. 61
24502031 2013
23
Revisiting regression in autism: Heller's dementia infantilis. Includes a translation of Über Dementia Infantilis. 61
22677931 2013
24
Care of the patient with an autism spectrum disorder by the general physician. 61
22427366 2012
25
Co-morbidity and factor analysis on attention deficit hyperactivity disorder and autism spectrum disorder DSM-IV-derived items. 61
23267399 2012
26
Autism and related disorders. 61
22608634 2012
27
[Anti-NMDA-receptor encephalitis: a new axis-III disorder in the differential diagnosis of childhood disintegrative disorder, early onset schizophrenia and late onset autism]. 61
22588963 2012
28
Childhood disintegrative disorder. 61
22837782 2012
29
Brief report: childhood disintegrative disorder: a brief examination of eight case studies. 61
20607378 2011
30
Prevalence of pervasive developmental disorders among children at the English Montreal School Board. 61
21070699 2010
31
Catatonia is hidden in plain sight among different pediatric disorders: a review article. 61
20933172 2010
32
Late onset autistic symptoms and other fluctuating behaviors. 61
20414073 2010
33
Late onset autistic symptoms and other fluctuating behaviors. 61
19996905 2009
34
Genetic studies in children with intellectual disability and autistic spectrum of disorders. 61
21088714 2009
35
The quality of life of children with pervasive developmental disorders. 61
19752845 2009
36
EEG and MRI findings and their relation with intellectual disability in pervasive developmental disorders. 61
19693463 2009
37
Corticosteroid treatment of behaviour, language and motor regression in childhood disintegrative disorder. 61
18625572 2009
38
Epilepsy-aphasia syndromes. 61
19496686 2009
39
Epidemiology of pervasive developmental disorders. 61
19218885 2009
40
A case study of childhood disintegrative disorder using systematic analysis of family home movies. 61
18454311 2008
41
Understanding the autistic dental patient. 61
18348375 2008
42
[Pervasive developmental disorders. Clinical and genetics aspects]. 61
18422083 2007
43
[Non-autistic pervasive developmental disorders: Rett syndrome, disintegrative disorder and pervasive developmental disorder not otherwise specified]. 61
16791387 2006
44
Brain-derived neurotrophic factor and autoantibodies to neural antigens in sera of children with autistic spectrum disorders, Landau-Kleffner syndrome, and epilepsy. 61
16181614 2006
45
Childhood Disintegrative Disorder, an atypical presentation: a case report. 61
16283078 2005
46
Comparison of childhood disintegrative disorder and disintegrative psychosis not diagnosed as childhood disintegrative disorder. 61
15823168 2005
47
Epidemiology of autistic disorder and other pervasive developmental disorders. 61
16401144 2005
48
What is known about autism: genes, brain, and behavior. 61
15813671 2005
49
Validity of childhood disintegrative disorder apart from autistic disorder with speech loss. 61
15365892 2004
50
External validity of childhood disintegrative disorder in comparison with autistic disorder. 61
15264502 2004
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Variations for Childhood Disintegrative Disease

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Expression for Childhood Disintegrative Disease

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Search GEO for disease gene expression data for Childhood Disintegrative Disease.
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Pathways for Childhood Disintegrative Disease

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Pathways related to Childhood Disintegrative Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transmission across Chemical Synapses 65
Show member pathways
 12.71 SHANK2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3
2
Cell adhesion molecules (CAMs) 36
11.73 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
3
Protein-protein interactions at synapses 65
Show member pathways
 11.39 SHANK2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3
4
Muscular Dystrophies and Dystrophin-Glycoprotein Complex 63
10.71 NRXN3 NRXN2 NRXN1
Sources

GO Terms for Childhood Disintegrative Disease

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Cellular components related to Childhood Disintegrative Disease according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.36 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
2 plasma membrane GO:0005886 10.35 SHANK2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3
3 integral component of plasma membrane GO:0005887 10.1 NRXN3 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
4 cell junction GO:0030054 10.02 SHANK2 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
5 cell surface GO:0009986 10.01 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1 CNTNAP2
6 dendrite GO:0030425 9.93 SHANK2 NLGN4X NLGN1 CNTNAP2 BDNF
7 postsynaptic membrane GO:0045211 9.83 SHANK2 NLGN4X NLGN2 GABRB3
8 postsynapse GO:0098794 9.81 NLGN3 NLGN1 MECP2 BDNF
9 integral component of postsynaptic membrane GO:0099055 9.76 NLGN3 NLGN2 NLGN1 CDH9
10 excitatory synapse GO:0060076 9.67 NLGN4X NLGN3 NLGN1
11 integral component of postsynaptic specialization membrane GO:0099060 9.65 NLGN2 NLGN1 CDH10
12 GABA-ergic synapse GO:0098982 9.65 NRXN3 NRXN1 NLGN2 GABRB3 CDH10
13 synapse GO:0045202 9.65 SHANK2 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
14 presynapse GO:0098793 9.63 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN1
15 asymmetric, glutamatergic, excitatory synapse GO:0098985 9.61 NLGN4X NLGN3 NLGN1
16 integral component of presynaptic active zone membrane GO:0099059 9.58 NRXN1 CDH10
17 neurofilament GO:0005883 9.55 SHANK2 DLGAP2
18 symmetric, GABA-ergic, inhibitory synapse GO:0098983 9.5 NLGN4X NLGN3 NLGN2
19 spanning component of membrane GO:0089717 8.92 NLGN4X NLGN3 NLGN2 NLGN1

Biological processes related to Childhood Disintegrative Disease according to GeneCards Suite gene sharing:

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.19 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
2 chemical synaptic transmission GO:0007268 10.09 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
3 modulation of chemical synaptic transmission GO:0050804 9.98 NLGN4X NLGN3 NLGN2 NLGN1 BDNF
4 positive regulation of synapse assembly GO:0051965 9.97 NRXN1 NLGN3 NLGN2 NLGN1 BDNF
5 neuron projection development GO:0031175 9.96 NRXN1 NLGN1 MECP2 CNTNAP2
6 learning GO:0007612 9.95 SHANK2 NRXN3 NRXN1 NLGN4X NLGN3 MECP2
7 synapse organization GO:0050808 9.93 NLGN4X NLGN3 NLGN2 NLGN1
8 positive regulation of synaptic transmission, glutamatergic GO:0051968 9.93 SHANK2 NRXN1 NLGN3 NLGN2 NLGN1
9 long-term synaptic potentiation GO:0060291 9.92 SHANK2 NLGN3 NLGN1 MECP2
10 positive regulation of excitatory postsynaptic potential GO:2000463 9.92 SHANK2 NRXN1 NLGN3 NLGN2 NLGN1
11 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.91 NRXN1 NLGN1 CDH9 CDH10
12 synaptic vesicle endocytosis GO:0048488 9.91 NLGN4X NLGN3 NLGN2 NLGN1
13 adult behavior GO:0030534 9.91 SHANK2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3
14 negative regulation of neuron apoptotic process GO:0043524 9.88 MECP2 GABRB3 BDNF
15 regulation of AMPA receptor activity GO:2000311 9.88 SHANK2 NRXN1 NLGN3 NLGN2 NLGN1
16 memory GO:0007613 9.87 SHANK2 MECP2 BDNF
17 presynapse assembly GO:0099054 9.86 NLGN4X NLGN3 NLGN2 NLGN1
18 neurotransmitter secretion GO:0007269 9.85 NRXN3 NRXN2 NRXN1
19 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.85 NLGN3 NLGN2 NLGN1 MECP2
20 presynaptic membrane assembly GO:0097105 9.85 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
21 regulation of NMDA receptor activity GO:2000310 9.82 NRXN1 NLGN3 NLGN1
22 synaptic membrane adhesion GO:0099560 9.81 NRXN1 NLGN1 CDH9
23 protein localization to synapse GO:0035418 9.81 NRXN1 NLGN2 NLGN1
24 postsynaptic density protein 95 clustering GO:0097119 9.81 NRXN2 NRXN1 NLGN2 NLGN1
25 inhibitory postsynaptic potential GO:0060080 9.8 NLGN3 GABRB3 BDNF
26 postsynaptic membrane assembly GO:0097104 9.8 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
27 vocalization behavior GO:0071625 9.8 SHANK2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3
28 vocal learning GO:0042297 9.77 NRXN2 NRXN1 CNTNAP2
29 positive regulation of synaptic vesicle clustering GO:2000809 9.77 NLGN3 NLGN2 NLGN1
30 gephyrin clustering involved in postsynaptic density assembly GO:0097116 9.75 NRXN2 NRXN1 NLGN2
31 regulation of neuron apoptotic process GO:0043523 9.7 GABRB3 BDNF
32 positive regulation of dendritic spine development GO:0060999 9.7 SHANK2 NLGN1
33 receptor localization to synapse GO:0097120 9.7 NRXN1 NLGN1
34 positive regulation of synaptic transmission, GABAergic GO:0032230 9.7 NLGN2 NLGN1
35 neuron cell-cell adhesion GO:0007158 9.7 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
36 inhibitory synapse assembly GO:1904862 9.69 NLGN2 GABRB3
37 negative regulation of excitatory postsynaptic potential GO:0090394 9.69 NLGN4X NLGN3
38 synaptic vesicle clustering GO:0097091 9.68 NRXN1 NLGN1
39 negative regulation of dendritic spine morphogenesis GO:0061002 9.68 NLGN3 NLGN1
40 neuronal signal transduction GO:0023041 9.68 NRXN1 NLGN1
41 neuron recognition GO:0008038 9.68 CNTNAP2 BDNF
42 positive regulation of protein localization to synapse GO:1902474 9.67 NLGN2 NLGN1
43 NMDA glutamate receptor clustering GO:0097114 9.67 NRXN1 NLGN1
44 neuroligin clustering involved in postsynaptic membrane assembly GO:0097118 9.66 NRXN2 NRXN1
45 postsynaptic specialization assembly GO:0098698 9.65 NLGN2 NLGN1
46 terminal button organization GO:0072553 9.65 NLGN2 NLGN1
47 positive regulation of presynaptic active zone assembly GO:1905520 9.64 NRXN1 NLGN1
48 social behavior GO:0035176 9.56 SHANK2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3
49 synapse assembly GO:0007416 9.32 SHANK2 NRXN3 NRXN2 NRXN1 NLGN3 NLGN2

Molecular functions related to Childhood Disintegrative Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.73 NRXN3 NRXN1 NLGN4X NLGN3 NLGN2 NLGN1
2 transmembrane signaling receptor activity GO:0004888 9.71 NRXN3 NRXN2 NRXN1 GABRB3
3 scaffold protein binding GO:0097110 9.54 NLGN4X NLGN3 NLGN1
4 calcium channel regulator activity GO:0005246 9.5 NRXN3 NRXN2 NRXN1
5 neuroligin family protein binding GO:0097109 9.33 NRXN3 NRXN2 NRXN1
6 neurexin family protein binding GO:0042043 9.26 NLGN4X NLGN3 NLGN2 NLGN1
7 cell adhesion molecule binding GO:0050839 9.17 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 NLGN2
Sources

Sources for Childhood Disintegrative Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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