MCID: CHL012
MIFTS: 33

Childhood Disintegrative Disease

Categories: Rare diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Childhood Disintegrative Disease

MalaCards integrated aliases for Childhood Disintegrative Disease:

Name: Childhood Disintegrative Disease 12 14
Childhood Disintegrative Disorder 72 49 55 69
Disintegrative Psychosis Nos 12
Shared Paranoid Disorder 69
Symbiotic Psychosis 12
Dementia Infantilis 55
Heller's Syndrome 12
Heller Syndrome 55

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:13487
ICD10 32 F84.3
ICD9CM 34 299.1
NCIt 46 C97164
Orphanet 55 ORPHA168782
UMLS via Orphanet 70 C0236791
ICD10 via Orphanet 33 F84.3

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. Related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 72 The childhood disintegrative disorder (CDD), also known as Heller\'s syndrome and disintegrative... more...

Related Diseases for Childhood Disintegrative Disease

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 SHANK3 HEXA LGI1 APP MBP BDNF
2 growth/size/body region MP:0005378 10.01 GABRB3 SHANK3 HEXA LGI1 APP MBP
3 mortality/aging MP:0010768 9.86 GABRB3 SHANK3 HEXA LGI1 APP MBP
4 integument MP:0010771 9.8 SHANK3 LGI1 APP MME BDNF POMC
5 hearing/vestibular/ear MP:0005377 9.77 GABRB3 SHANK3 HEXA MBP BDNF
6 nervous system MP:0003631 9.76 GABRB3 SHANK3 HEXA LGI1 APP MBP
7 no phenotypic analysis MP:0003012 9.35 POMC GABRB3 SHANK3 APP BDNF
8 vision/eye MP:0005391 9.02 SHANK3 HEXA LGI1 MBP BDNF

Drugs & Therapeutics for Childhood Disintegrative Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Advanced Grandparental Age as a Risk Factor for Autism Completed NCT00464477
2 Predictors of Caregiver Adaptation to Pervasive Developmental Disorders Completed NCT00496210
3 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
CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder. ( 26286102 )
2015
3
Childhood disintegrative disorder: distinction from autistic disorder and predictors of outcome. ( 23340080 )
2013
4
Brief report: childhood disintegrative disorder as a likely manifestation of vitamin B12 deficiency. ( 23334842 )
2013
5
External validity of childhood disintegrative disorder in comparison with autistic disorder. ( 15264502 )
2004
6
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 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 learning or memory GO:0007611 9.26 APP SHANK3
2 neuromuscular process controlling balance GO:0050885 9.16 APP SHANK3
3 axon guidance GO:0007411 9.13 BDNF LGI1 SHANK3
4 positive regulation of long-term synaptic potentiation GO:1900273 8.62 APP SHANK3

Sources for Childhood Disintegrative Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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