MCID: CHL012
MIFTS: 44

Childhood Disintegrative Disease

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Childhood Disintegrative Disease

MalaCards integrated aliases for Childhood Disintegrative Disease:

Name: Childhood Disintegrative Disease 12 15
Childhood Disintegrative Disorder 73 20 58 70
Disintegrative Psychosis 12
Shared Paranoid Disorder 70
Symbiotic Psychosis 12
Dementia Infantilis 58
Heller's Syndrome 12
Heller Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:13487
ICD9CM 34 299.1
NCIt 50 C97164
SNOMED-CT 67 71961003
ICD10 32 F84.3
ICD10 via Orphanet 33 F84.3
UMLS via Orphanet 71 C0236791
Orphanet 58 ORPHA168782
UMLS 70 C0036939 C0236791

Summaries for Childhood Disintegrative Disease

Disease Ontology : 12 A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 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 asperger syndrome and rett syndrome. An important gene associated with Childhood Disintegrative Disease is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neuroscience. The drugs Dexmedetomidine and Ketamine 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 : 73 Childhood disintegrative disorder (CDD), also known as Heller's syndrome and disintegrative psychosis,... more...

Related Diseases for Childhood Disintegrative Disease

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 asperger syndrome 30.6 SHANK2 OXT NRXN1 NLGN4X NLGN3 MECP2
2 rett syndrome 29.3 UBE3A MECP2 GABRB3 BDNF
3 alacrima, achalasia, and mental retardation syndrome 29.0 UBE3A NRXN1 NLGN3 MECP2 GABRB3 FMR1
4 autism spectrum disorder 28.8 UBE3A SHANK2 OXT NRXN3 NRXN2 NRXN1
5 schizophrenia 27.7 SHANK2 OXT NRXN3 NRXN1 NLGN4X MECP2
6 pervasive developmental disorder 27.4 UBE3A SHANK2 OXT NRXN3 NRXN2 NRXN1
7 autism 26.7 UBE3A SHANK2 OXT NRXN3 NRXN2 NRXN1
8 rare pervasive developmental disorder 10.5
9 dementia 10.5
10 pitt-hopkins-like syndrome 10.4 NRXN1 CNTNAP2
11 valproate embryopathy 10.3 NLGN3 MECP2
12 landau-kleffner syndrome 10.3 MECP2 CNTNAP2
13 potocki-lupski syndrome 10.2 NRXN1 NLGN3 MECP2
14 pitt-hopkins-like syndrome 2 10.2 NRXN3 NRXN1 NLGN4X
15 specific language impairment 10.2 NRXN1 NLGN4X CNTNAP2
16 anterograde amnesia 10.2 CNTNAP2 BDNF
17 learning disability 10.1 MECP2 FMR1 CNTNAP2
18 schizophreniform disorder 10.1 NRXN1 BDNF
19 meier-gorlin syndrome 2 10.1 FMR1 CNTNAP2
20 tay-sachs disease 10.1
21 homocysteinemia 10.1
22 developmental delay with or without dysmorphic facies and autism 10.1
23 vitamin b12 deficiency 10.1
24 physical disorder 10.1
25 gm2 gangliosidosis 10.1
26 mutism 10.1
27 encephalitis 10.1
28 gangliosidosis 10.1
29 seizure disorder 10.1
30 early-onset schizophrenia 10.1
31 west syndrome 10.0 NRXN1 MECP2 GABRB3 CNTNAP2
32 sexual sadism 10.0 OXT BDNF
33 speech disorder 10.0 NRXN1 MECP2 FMR1 CNTNAP2
34 epilepsy, idiopathic generalized 9 10.0 FMR1 CNTNAP2
35 velocardiofacial syndrome 10.0 NRXN1 MECP2 FMR1 CNTNAP2
36 aphasia 10.0
37 apraxia 10.0
38 gait apraxia 10.0
39 measles 10.0
40 dissociative disorder 10.0 OXT BDNF
41 tic disorder 10.0 NRXN2 NRXN1 NLGN4X NLGN3 CNTNAP2
42 separation anxiety disorder 10.0 OXT DLGAP2
43 tobacco addiction 10.0 NRXN3 NRXN1 BDNF
44 neurotic disorder 10.0 OXT BDNF
45 hypochondriasis 10.0 OXT BDNF
46 chromosomal deletion syndrome 10.0 SHANK2 NRXN1 MECP2 FMR1
47 gilles de la tourette syndrome 10.0 NRXN1 NLGN4X CNTNAP2 BDNF
48 chromosomal duplication syndrome 10.0 MECP2 FMR1 BDNF
49 adjustment disorder 10.0 OXT BDNF
50 asphyxia neonatorum 10.0 OXT BDNF

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



Diseases related to Childhood Disintegrative Disease

Symptoms & Phenotypes for Childhood Disintegrative Disease

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 bowel incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0002607
4 stereotypy 58 31 frequent (33%) Frequent (79-30%) HP:0000733
5 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 BDNF CNTNAP2 DLGAP2 FMR1 GABRB3 GRIN3B
2 growth/size/body region MP:0005378 9.77 BDNF CDH10 CNTNAP2 FMR1 GABRB3 GRIN3B
3 nervous system MP:0003631 9.44 BDNF CDH9 CNTNAP2 DLGAP2 FMR1 GABRB3

Drugs & Therapeutics for Childhood Disintegrative Disease

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

(show top 50) (show all 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
2
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
3
Cinnarizine Approved, Investigational Phase 4 298-57-7 2761 1547484
4
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
5
Haloperidol Approved Phase 4 52-86-8 3559
6
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
7
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
8
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
9
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
10
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
11 Psychotropic Drugs Phase 4
12 Neurotransmitter Agents Phase 4
13 Adrenergic alpha-Agonists Phase 4
14 Adrenergic Agonists Phase 4
15 Hypnotics and Sedatives Phase 4
16 Anesthetics Phase 4
17 Anesthetics, General Phase 4
18 Excitatory Amino Acid Antagonists Phase 4
19 Anesthetics, Intravenous Phase 4
20 Anesthetics, Dissociative Phase 4
21 N-Methylaspartate Phase 4
22 Adrenergic Agents Phase 4
23 Analgesics Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Micronutrients Phase 4
26 Trace Elements Phase 4
27 Vitamin B9 Phase 4
28 Nutrients Phase 4
29 Gastrointestinal Agents Phase 4
30 Haloperidol decanoate Phase 4
31 Vitamin B Complex Phase 4
32 Folate Phase 4
33 Antiemetics Phase 4
34 Vitamins Phase 4
35 Hormones Phase 4
36 Anticonvulsants Phase 4
37 GABA Modulators Phase 4
38 Thiamin Phase 4
39 Histamine Antagonists Phase 4
40 calcium channel blockers Phase 4
41
Histamine Phosphate Phase 4 51-74-1 65513
42 Anti-Anxiety Agents Phase 4
43 Calcium, Dietary Phase 4
44 Histamine H1 Antagonists 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 Antipsychotic Agents Phase 2, Phase 3
49 Central Nervous System Stimulants Phase 2, Phase 3
50 Dopamine Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevention of NMDA Antagonist-induced Psychosis and Memory Impairment in Children Completed NCT00205712 Phase 4 Ketamine;Dexmedetomidine
2 Therapeutic Effect Between Quetiapine and Haloperidol on the Treatment of Methamphetamine - Induced Psychosis Completed NCT01939093 Phase 4 Diazepam;Stugeron
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 Prevention of Weight Gain in Early Psychoses Completed NCT01075295
7 Effectiveness of Intensive Lifestyle Interventions in the Management of Diabetes in Individuals With Psychosis Completed NCT01828931
8 ED to EPI: Using SMS (Text) Messaging to Improve the Transition From the Emergency Department to Early Psychosis Intervention for Young People With Psychosis Recruiting NCT04298450
9 Effect of Individual Cognitive Stimulation at Home in Adults With Psychotic Disorders: Randomised Controlled Trial Not yet recruiting NCT04783285
10 Longitudinal and Biological Study of Childhood Disintegrative Disorder Terminated NCT00004458

Search NIH Clinical Center for Childhood Disintegrative Disease

Genetic Tests for Childhood Disintegrative Disease

Anatomical Context for Childhood Disintegrative Disease

MalaCards organs/tissues related to Childhood Disintegrative Disease:

40
Brain

Publications for Childhood Disintegrative Disease

Articles related to Childhood Disintegrative Disease:

(show top 50) (show all 81)
# Title Authors PMID Year
1
Critical role of dysfunctional mitochondria and defective mitophagy in autism spectrum disorders. 61
33400955 2021
2
Clinical Relevance of Methylenetetrahydrofolate Reductase Genetic Testing in Autism: A Case Report of Successful Clinical Outcome. 61
33577628 2021
3
Childhood disintegrative disorder and autism spectrum disorder: a systematic review. 61
30548847 2019
4
Childhood disintegrative disorder: part of the autism spectrum? 61
30740653 2019
5
Two cases of variant late infantile ceroid lipofuscinosis in Jordan. 61
30705896 2019
6
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
7
Identification of the Genetic Cause for Childhood Disintegrative Disorder by Whole-Exome Sequencing. 61
28283807 2017
8
Neurogenetic analysis of childhood disintegrative disorder. 61
28392909 2017
9
Autism Spectrum Disorder: Primary Care Principles. 61
28075089 2016
10
Trauma and Violence in Autism. 61
27236175 2016
11
CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder. 61
26286102 2016
12
Childhood Disintegrative Disorder as a Complication of Chicken Pox. 61
27011406 2016
13
Childhood disintegrative disorder with seasonal total mutism: A rare clinical presentation. 61
27069898 2016
14
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
15
Approach to autism spectrum disorder: Using the new DSM-V diagnostic criteria and the CanMEDS-FM framework. 61
25971758 2015
16
Childhood disintegrative disorder: a case report. 61
26211118 2015
17
Psychosocial short stature with psychosis: a case report. 61
25520002 2015
18
[A late debut of childhood disintegrative disorder]. 61
25613094 2015
19
Recent update of autism spectrum disorders. 61
25729393 2015
20
A new structured interview for children with autism spectrum disorder based on the DSM-IV. 61
25518287 2014
21
[Autism spectrum disorders - epidemiology, symptoms, comorbidity and diagnosis]. 61
25314794 2014
22
Childhood disintegrative disorder: distinction from autistic disorder and predictors of outcome. 61
23340080 2013
23
Brief report: childhood disintegrative disorder as a likely manifestation of vitamin B12 deficiency. 61
23334842 2013
24
Autism, an overwhelming condition: history, etiopathogenesis, types, diagnosis, therapy and prognosis. 61
24502031 2013
25
Revisiting regression in autism: Heller's dementia infantilis. Includes a translation of Über Dementia Infantilis. 61
22677931 2013
26
Care of the patient with an autism spectrum disorder by the general physician. 61
22427366 2012
27
Co-morbidity and factor analysis on attention deficit hyperactivity disorder and autism spectrum disorder DSM-IV-derived items. 61
23267399 2012
28
[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
29
Autism and related disorders. 61
22608634 2012
30
Childhood disintegrative disorder. 61
22837782 2012
31
Brief report: childhood disintegrative disorder: a brief examination of eight case studies. 61
20607378 2011
32
Prevalence of pervasive developmental disorders among children at the English Montreal School Board. 61
21070699 2010
33
Catatonia is hidden in plain sight among different pediatric disorders: a review article. 61
20933172 2010
34
Late onset autistic symptoms and other fluctuating behaviors. 61
20414073 2010
35
Late onset autistic symptoms and other fluctuating behaviors. 61
19996905 2009
36
Genetic studies in children with intellectual disability and autistic spectrum of disorders. 61
21088714 2009
37
The quality of life of children with pervasive developmental disorders. 61
19752845 2009
38
EEG and MRI findings and their relation with intellectual disability in pervasive developmental disorders. 61
19693463 2009
39
Corticosteroid treatment of behaviour, language and motor regression in childhood disintegrative disorder. 61
18625572 2009
40
Epidemiology of pervasive developmental disorders. 61
19218885 2009
41
Epilepsy-aphasia syndromes. 61
19496686 2009
42
A case study of childhood disintegrative disorder using systematic analysis of family home movies. 61
18454311 2008
43
Understanding the autistic dental patient. 61
18348375 2008
44
[Pervasive developmental disorders. Clinical and genetics aspects]. 61
18422083 2007
45
[Non-autistic pervasive developmental disorders: Rett syndrome, disintegrative disorder and pervasive developmental disorder not otherwise specified]. 61
16791387 2006
46
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
47
Childhood Disintegrative Disorder, an atypical presentation: a case report. 61
16283078 2005
48
Comparison of childhood disintegrative disorder and disintegrative psychosis not diagnosed as childhood disintegrative disorder. 61
15823168 2005
49
Epidemiology of autistic disorder and other pervasive developmental disorders. 61
16401144 2005
50
What is known about autism: genes, brain, and behavior. 61
15813671 2005

Variations for Childhood Disintegrative Disease

Expression for Childhood Disintegrative Disease

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

Pathways for Childhood Disintegrative Disease

GO Terms for Childhood Disintegrative Disease

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.22 SHANK2 OR6C65 NRXN3 NRXN2 NRXN1 NLGN4X
2 neuronal cell body GO:0043025 9.83 SHANK2 NRXN1 GRIN3B FMR1 CNTNAP2
3 cell junction GO:0030054 9.81 SHANK2 NRXN1 NLGN4X NLGN3 GRIN3B GABRB3
4 postsynaptic membrane GO:0045211 9.65 SHANK2 NLGN4X GRIN3B GABRB3 FMR1
5 postsynapse GO:0098794 9.62 NLGN3 MECP2 FMR1 BDNF
6 neurofilament GO:0005883 9.49 SHANK2 DLGAP2
7 spanning component of membrane GO:0089717 9.48 NLGN4X NLGN3
8 asymmetric, glutamatergic, excitatory synapse GO:0098985 9.46 NLGN4X NLGN3
9 presynapse GO:0098793 9.43 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 FMR1
10 symmetric, GABA-ergic, inhibitory synapse GO:0098983 9.37 NLGN4X NLGN3
11 synapse GO:0045202 9.32 SHANK2 NRXN2 NRXN1 NLGN4X NLGN3 MECP2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.03 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3 CNTNAP2
2 chemical synaptic transmission GO:0007268 9.95 NRXN2 NRXN1 NLGN4X NLGN3 MECP2 GABRB3
3 learning GO:0007612 9.87 SHANK2 NRXN3 NRXN1 NLGN4X NLGN3 MECP2
4 positive regulation of synapse assembly GO:0051965 9.81 OXT NRXN1 NLGN3 BDNF
5 synapse assembly GO:0007416 9.8 SHANK2 NRXN2 NRXN1 NLGN3 MECP2 CDH9
6 neuron projection development GO:0031175 9.79 NRXN1 MECP2 CNTNAP2
7 memory GO:0007613 9.77 OXT MECP2 BDNF
8 neuron cell-cell adhesion GO:0007158 9.77 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3
9 modulation of chemical synaptic transmission GO:0050804 9.76 NLGN4X NLGN3 BDNF
10 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.73 NRXN1 CDH9 CDH10
11 positive regulation of synaptic transmission, glutamatergic GO:0051968 9.71 SHANK2 NRXN1 NLGN3
12 postsynaptic membrane assembly GO:0097104 9.71 NRXN2 NRXN1 NLGN4X NLGN3
13 positive regulation of excitatory postsynaptic potential GO:2000463 9.7 SHANK2 NRXN1 NLGN3
14 adult behavior GO:0030534 9.7 SHANK2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3
15 presynaptic membrane assembly GO:0097105 9.67 NRXN1 NLGN4X NLGN3
16 vocal learning GO:0042297 9.63 NRXN2 NRXN1 CNTNAP2
17 positive regulation of dendritic spine development GO:0060999 9.62 SHANK2 FMR1
18 regulation of AMPA receptor activity GO:2000311 9.61 SHANK2 NRXN1
19 presynapse assembly GO:0099054 9.61 NLGN4X NLGN3
20 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.6 NLGN3 MECP2
21 postsynaptic density protein 95 clustering GO:0097119 9.58 NRXN2 NRXN1
22 gephyrin clustering involved in postsynaptic density assembly GO:0097116 9.57 NRXN2 NRXN1
23 neuroligin clustering involved in postsynaptic membrane assembly GO:0097118 9.55 NRXN2 NRXN1
24 vocalization behavior GO:0071625 9.5 SHANK2 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3
25 social behavior GO:0035176 9.28 SHANK2 OXT NRXN3 NRXN2 NRXN1 NLGN4X

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.62 NRXN3 NRXN2 NRXN1 GABRB3
2 signaling receptor activity GO:0038023 9.55 NRXN3 NRXN1 NLGN4X NLGN3 GRIN3B
3 neurexin family protein binding GO:0042043 9.37 NLGN4X NLGN3
4 siRNA binding GO:0035197 9.26 MECP2 FMR1
5 neuroligin family protein binding GO:0097109 9.13 NRXN3 NRXN2 NRXN1
6 cell adhesion molecule binding GO:0050839 9.02 NRXN3 NRXN2 NRXN1 NLGN4X NLGN3

Sources for Childhood Disintegrative Disease

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
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