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MCID: CHL012
MIFTS: 43

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 77 54 60 74
Disintegrative Psychosis 12
Shared Paranoid Disorder 74
Symbiotic Psychosis 12
Dementia Infantilis 60
Heller's Syndrome 12
Heller Syndrome 60

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:13487
ICD9CM 36 299.1
NCIt 51 C97164
SNOMED-CT 69 71961003
ICD10 34 F84.3
ICD10 via Orphanet 35 F84.3
UMLS via Orphanet 75 C0236791
Orphanet 60 ORPHA168782
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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 pervasive developmental disorder and autism. An important gene associated with Childhood Disintegrative Disease is TRRAP (Transformation/Transcription Domain Associated Protein), and among its related pathways/superpathways are Neuroscience and p75(NTR)-mediated signaling. The drugs Acetylcysteine and N-monoacetylcystine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are progressive language deterioration and abnormal emotion/affect behavior

Wikipedia : 77 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 all 41)
# Related Disease Score Top Affiliating Genes
1 pervasive developmental disorder 31.3 BDNF GABRB3
2 autism 29.9 BDNF GABRB3 MBP
3 autism spectrum disorder 11.4
4 asperger syndrome 11.1
5 childhood electroclinical syndrome 10.2 GABRB3 POMC
6 post-vaccinal encephalitis 10.1 MBP POMC
7 allergic encephalomyelitis 10.1 MBP POMC
8 lennox-gastaut syndrome 10.1 GABRB3 POMC
9 rett syndrome 10.1
10 dementia 10.1
11 chromosomal disease 10.1 APP GABRB3
12 autoimmune optic neuritis 10.1 APP MBP
13 meningoencephalitis 10.0 APP MBP
14 malignant leydig cell tumor 10.0 MME POMC
15 cerebral amyloid angiopathy, cst3-related 10.0 APP MME
16 vascular dementia 10.0 APP MBP
17 vitamin b12 deficiency 9.9
18 gm2 gangliosidosis 9.9
19 mutism 9.9
20 gangliosidosis 9.9
21 mental depression 9.9 BDNF POMC
22 neonatal hypoxic and ischemic brain injury 9.9 BDNF MBP
23 brain injury 9.9 BDNF MBP
24 traumatic brain injury 9.9 BDNF MBP
25 aphasia 9.9 APP BDNF
26 autonomic nervous system neoplasm 9.9 APP BDNF
27 autoimmune disease of central nervous system 9.9 BDNF MBP
28 drug dependence 9.8 BDNF POMC
29 peripheral nervous system neoplasm 9.8 APP BDNF
30 eating disorder 9.8 BDNF POMC
31 toxic encephalopathy 9.8 APP BDNF
32 specific developmental disorder 9.8 BDNF POMC
33 substance dependence 9.8 BDNF POMC
34 relapsing-remitting multiple sclerosis 9.8 BDNF MBP
35 mood disorder 9.7 BDNF POMC
36 alcohol dependence 9.7 BDNF GABRB3 POMC
37 psychotic disorder 9.7 BDNF GABRB3
38 disease of mental health 9.6 APP BDNF POMC
39 nervous system disease 9.6 APP BDNF MBP
40 central nervous system disease 9.6 APP BDNF MBP
41 anorexia nervosa 9.5 BDNF POMC

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:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive language deterioration 60 33 hallmark (90%) Very frequent (99-80%) HP:0007064
2 abnormal emotion/affect behavior 60 33 hallmark (90%) Very frequent (99-80%) HP:0100851
3 bowel incontinence 60 33 frequent (33%) Frequent (79-30%) HP:0002607
4 stereotypy 60 33 frequent (33%) Frequent (79-30%) HP:0000733
5 absent speech 60 33 frequent (33%) Frequent (79-30%) HP:0001344
6 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
7 impaired social interactions 60 33 frequent (33%) Frequent (79-30%) HP:0000735
8 urinary incontinence 60 33 frequent (33%) Frequent (79-30%) HP:0000020
9 social and occupational deterioration 60 33 frequent (33%) Frequent (79-30%) HP:0007086
10 developmental regression 60 33 occasional (7.5%) Occasional (29-5%) HP:0002376
11 intellectual disability, severe 60 33 occasional (7.5%) Occasional (29-5%) HP:0010864
12 motor deterioration 60 33 occasional (7.5%) Occasional (29-5%) HP:0002333
13 dementia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000726
14 seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0001250
15 mental deterioration 60 Very frequent (99-80%)
16 autistic behavior 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Childhood Disintegrative Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.63 APP BDNF MBP MME POMC TRRAP
2 mortality/aging MP:0010768 9.43 APP BDNF GABRB3 MBP POMC TRRAP
3 no phenotypic analysis MP:0003012 8.92 APP BDNF GABRB3 POMC
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 all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2 N-monoacetylcystine Phase 2
3 Free Radical Scavengers Phase 2
4 Expectorants Phase 2
5 Protective Agents Phase 2
6 Antidotes Phase 2
7 Antiviral Agents Phase 2
8 Respiratory System Agents Phase 2
9 Anti-Infective Agents Phase 2
10 Antioxidants Phase 2
11
Erythromycin Approved, Investigational, Vet_approved 114-07-8 441411 12560
12
Clarithromycin Approved 81103-11-9 84029
13
Azithromycin Approved 83905-01-5 447043 55185
14 Erythromycin stearate
15 Erythromycin Ethylsuccinate
16 penicillins
17 Erythromycin Estolate
18 Anti-Bacterial Agents
19 Antibiotics, Antitubercular
20 Antitubercular Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Oral N-Acetylcysteine in Children With Autism Spectrum Disorders Completed NCT00453180 Phase 2 N-acetylcysteine;Placebo
2 Advanced Grandparental Age as a Risk Factor for Autism Completed NCT00464477
3 Predictors of Caregiver Adaptation to Pervasive Developmental Disorders Completed NCT00496210
4 Macrolide in Pregnancy and Adverse Child Outcomes Completed NCT03948620 Macrolides;Penicillins
5 Longitudinal and Biological Study of Childhood Disintegrative Disorder Terminated NCT00004458

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:

42
Brain
Sources

Publications for Childhood Disintegrative Disease

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Articles related to Childhood Disintegrative Disease:

(show all 30)
# Title Authors Year
1
Childhood disintegrative disorder: part of the autism spectrum? ( 30740653 )
2019
2
Childhood disintegrative disorder and autism spectrum disorder: a systematic review. ( 30548847 )
2018
3
Neurogenetic analysis of childhood disintegrative disorder. ( 28392909 )
2017
4
Identification of the Genetic Cause for Childhood Disintegrative Disorder by Whole-Exome Sequencing. ( 28283807 )
2017
5
CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder. ( 26286102 )
2016
6
Childhood disintegrative disorder with seasonal total mutism: A rare clinical presentation. ( 27069898 )
2016
7
Childhood Disintegrative Disorder as a Complication of Chicken Pox. ( 27011406 )
2016
8
Childhood disintegrative disorder: a case report. ( 26211118 )
2015
9
Brief report: childhood disintegrative disorder as a likely manifestation of vitamin B12 deficiency. ( 23334842 )
2013
10
Childhood disintegrative disorder: distinction from autistic disorder and predictors of outcome. ( 23340080 )
2013
11
Childhood disintegrative disorder. ( 22837782 )
2012
12
Brief report: childhood disintegrative disorder: a brief examination of eight case studies. ( 20607378 )
2011
13
Corticosteroid treatment of behaviour, language and motor regression in childhood disintegrative disorder. ( 18625572 )
2009
14
A case study of childhood disintegrative disorder using systematic analysis of family home movies. ( 18454311 )
2008
15
Comparison of childhood disintegrative disorder and disintegrative psychosis not diagnosed as childhood disintegrative disorder. ( 15823168 )
2005
16
Childhood Disintegrative Disorder, an atypical presentation: a case report. ( 16283078 )
2005
17
Olanzapine for childhood disintegrative disorder. ( 15160660 )
2004
18
Validity of childhood disintegrative disorder apart from autistic disorder with speech loss. ( 15365892 )
2004
19
External validity of childhood disintegrative disorder in comparison with autistic disorder. ( 15264502 )
2004
20
Childhood disintegrative disorder. ( 12767450 )
2003
21
Prevalence of childhood disintegrative disorder. ( 12083281 )
2002
22
Childhood disintegrative disorder. Re-examination of the current concept. ( 12369769 )
2002
23
Childhood disintegrative disorder: should it be considered a distinct diagnosis? ( 10660829 )
2000
24
High functioning autism and Childhood Disintegrative Disorder in half brothers. ( 10832776 )
2000
25
What is Childhood Disintegrative Disorder, how is it different from autism, and what is believed to be its cause? ( 10832784 )
2000
26
Childhood disintegrative disorder. ( 10638461 )
1999
27
Two males with childhood disintegrative disorder: a prospective 14-year outcome study. ( 9851240 )
1998
28
Childhood disintegrative disorder : a case report. ( 21584052 )
1997
29
Childhood disintegrative disorder: results of the DSM-IV autism field trial. ( 7665448 )
1995
30
Childhood disintegrative disorder: issues for DSM-IV. ( 1483980 )
1992
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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
Neuroscience 4
11.87 APP MBP POMC
2
p75(NTR)-mediated signaling 1
Show member pathways
 11.14 APP BDNF
3
MECP2 and Associated Rett Syndrome 1
11.05 BDNF MBP
4
A-beta Pathways: Uptake and Degradation 66
10.46 APP MME
5
A-beta Pathways: Plaque Formation and APP Metabolism 66
9.98 APP MME
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GO Terms for Childhood Disintegrative Disease

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

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.13 APP GABRB3 MME
2 axon GO:0030424 8.8 APP BDNF MME
Sources

Sources for Childhood Disintegrative Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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