MCID: CHL012
MIFTS: 37

Childhood Disintegrative Disease

Categories: Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Childhood Disintegrative Disease

MalaCards integrated aliases for Childhood Disintegrative Disease:

Name: Childhood Disintegrative Disease 12 15
Childhood Disintegrative Disorder 76 53 59 73
Disintegrative Psychosis 12
Shared Paranoid Disorder 73
Symbiotic Psychosis 12
Dementia Infantilis 59
Heller's Syndrome 12
Heller Syndrome 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:13487
ICD10 33 F84.3
ICD9CM 35 299.1
NCIt 50 C97164
Orphanet 59 ORPHA168782
ICD10 via Orphanet 34 F84.3
UMLS via Orphanet 74 C0236791

Summaries for Childhood Disintegrative Disease

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 spectrum disorder. An important gene associated with Childhood Disintegrative Disease is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3), and among its related pathways/superpathways are Neuroscience and MECP2 and Associated Rett Syndrome. The drugs Acetylcysteine and Antidotes have been mentioned in the context of this disorder. Related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 76 The childhood disintegrative disorder (CDD), also known as Heller\'s syndrome and disintegrative... more...

Related Diseases for Childhood Disintegrative Disease

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 pervasive developmental disorder 31.5 BDNF GABRB3 SHANK3
2 autism spectrum disorder 31.4 BDNF GABRB3 SHANK3
3 autism 29.4 BDNF GABRB3 MBP SHANK3
4 asperger syndrome 10.9
5 mannosidosis, beta a, lysosomal 10.4 HEXA MBP
6 neonatal hypoxic and ischemic brain injury 10.3 BDNF MBP
7 amnestic disorder 10.3 BDNF LGI1
8 traumatic brain injury 10.3 BDNF MBP
9 brain injury 10.2 BDNF MBP
10 psychotic disorder 10.1 BDNF GABRB3 SHANK3
11 internuclear ophthalmoplegia 10.1 HEXA LGI1 MBP
12 chromosomal disease 10.0 APP GABRB3
13 childhood electroclinical syndrome 10.0 GABRB3 POMC
14 post-vaccinal encephalitis 9.9 MBP POMC
15 peripheral nervous system neoplasm 9.9 APP BDNF
16 cerebral amyloid angiopathy, cst3-related 9.9 APP MME
17 vitamin b12 deficiency 9.8
18 mutism 9.8
19 lennox-gastaut syndrome 9.8 GABRB3 POMC
20 malignant leydig cell tumor 9.8 MME POMC
21 endogenous depression 9.7 BDNF POMC
22 autonomic nervous system neoplasm 9.7 APP BDNF
23 mental depression 9.7 BDNF POMC
24 toxic encephalopathy 9.7 APP BDNF
25 meningoencephalitis 9.6 APP BDNF MBP
26 central nervous system disease 9.6 APP BDNF MBP
27 nervous system disease 9.6 APP BDNF MBP
28 organ system benign neoplasm 9.6 MME POMC
29 alcohol dependence 9.4 BDNF GABRB3 POMC
30 eating disorder 9.3 BDNF POMC
31 drug dependence 9.1 BDNF POMC
32 disease of mental health 8.8 APP BDNF POMC SHANK3

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



Diseases related to Childhood Disintegrative Disease

Symptoms & Phenotypes for Childhood Disintegrative Disease

MGI Mouse Phenotypes related to Childhood Disintegrative Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 POMC GABRB3 SHANK3 HEXA LGI1 APP
2 growth/size/body region MP:0005378 10.01 POMC GABRB3 SHANK3 HEXA LGI1 APP
3 mortality/aging MP:0010768 9.86 BDNF POMC GABRB3 SHANK3 HEXA LGI1
4 integument MP:0010771 9.8 MME BDNF POMC SHANK3 LGI1 APP
5 hearing/vestibular/ear MP:0005377 9.77 GABRB3 SHANK3 HEXA MBP BDNF
6 nervous system MP:0003631 9.76 POMC GABRB3 SHANK3 HEXA LGI1 APP
7 no phenotypic analysis MP:0003012 9.35 BDNF POMC GABRB3 SHANK3 APP
8 vision/eye MP:0005391 9.02 BDNF SHANK3 HEXA LGI1 MBP

Drugs & Therapeutics for Childhood Disintegrative Disease

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2 Antidotes Phase 2
3 Anti-Infective Agents Phase 2
4 Antioxidants Phase 2
5 Antiviral Agents Phase 2
6 Expectorants Phase 2
7 N-monoacetylcystine Phase 2
8 Protective Agents Phase 2
9 Respiratory System Agents Phase 2

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 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

Publications for Childhood Disintegrative Disease

Articles related to Childhood Disintegrative Disease:

# Title Authors Year
1
Childhood disintegrative disorder with seasonal total mutism: A rare clinical presentation. ( 27069898 )
2016
2
Childhood Disintegrative Disorder as a Complication of Chicken Pox. ( 27011406 )
2016
3
CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder. ( 26286102 )
2015
4
Childhood disintegrative disorder: distinction from autistic disorder and predictors of outcome. ( 23340080 )
2013
5
Brief report: childhood disintegrative disorder as a likely manifestation of vitamin B12 deficiency. ( 23334842 )
2013
6
External validity of childhood disintegrative disorder in comparison with autistic disorder. ( 15264502 )
2004
7
Validity of childhood disintegrative disorder apart from autistic disorder with speech loss. ( 15365892 )
2004

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

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

# Super pathways Score Top Affiliating Genes
1 11.46 APP MBP POMC SHANK3
2 11.05 BDNF MBP
3 10.66 APP MME
4 10.32 APP MME

GO Terms for Childhood Disintegrative Disease

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

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.13 APP BDNF MME
2 synapse GO:0045202 8.92 APP GABRB3 LGI1 MME

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

# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.43 BDNF LGI1 SHANK3
2 learning or memory GO:0007611 9.37 APP SHANK3
3 neuromuscular process controlling balance GO:0050885 9.32 APP SHANK3
4 positive regulation of long-term synaptic potentiation GO:1900273 9.16 APP SHANK3
5 locomotion GO:0040011 8.96 BDNF SHANK3
6 synaptic growth at neuromuscular junction GO:0051124 8.62 APP SHANK3

Sources for Childhood Disintegrative Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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