MCID: CHL012
MIFTS: 43

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 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
SNOMED-CT 68 71961003
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 autism spectrum disorder and asperger syndrome. 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 p75(NTR)-mediated signaling. Affiliated tissues include brain, and related phenotypes are seizures and developmental regression

Wikipedia : 76 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 all 35)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 32.1 BDNF GABRB3 SHANK3
2 asperger syndrome 31.6 BDNF GABRB3 SHANK3
3 pervasive developmental disorder 31.6 BDNF GABRB3 SHANK3
4 autism 30.3 BDNF GABRB3 MBP SHANK3
5 childhood electroclinical syndrome 10.1 GABRB3 POMC
6 post-vaccinal encephalitis 10.1 MBP POMC
7 mannosidosis, beta a, lysosomal 10.1 HEXA MBP
8 neonatal hypoxic and ischemic brain injury 10.1 BDNF MBP
9 amnestic disorder 10.1 BDNF LGI1
10 brain injury 10.1 BDNF MBP
11 lennox-gastaut syndrome 10.1 GABRB3 POMC
12 traumatic brain injury 10.0 BDNF MBP
13 mental depression 10.0 BDNF POMC
14 malignant leydig cell tumor 10.0 MME POMC
15 psychotic disorder 10.0 BDNF GABRB3 SHANK3
16 internuclear ophthalmoplegia 10.0 HEXA LGI1 MBP
17 autoimmune disease of central nervous system 10.0 BDNF MBP
18 specific developmental disorder 10.0 BDNF POMC SHANK3
19 alcohol dependence 9.9 BDNF GABRB3 POMC
20 chromosomal disease 9.9 APP GABRB3
21 autoimmune optic neuritis 9.9 APP MBP
22 vitamin b12 deficiency 9.9
23 mutism 9.9
24 autoimmune disease of the nervous system 9.9 BDNF MBP
25 meningoencephalitis 9.9 APP MBP
26 drug dependence 9.9 BDNF POMC
27 aphasia 9.9 APP BDNF
28 autonomic nervous system neoplasm 9.9 APP BDNF
29 peripheral nervous system neoplasm 9.8 APP BDNF
30 cerebral amyloid angiopathy, cst3-related 9.8 APP MME
31 eating disorder 9.8 BDNF POMC
32 toxic encephalopathy 9.8 APP BDNF
33 nervous system disease 9.8 APP BDNF MBP
34 central nervous system disease 9.8 APP BDNF MBP
35 disease of mental health 9.7 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

Human phenotypes related to Childhood Disintegrative Disease:

59 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 Very rare (<4-1%)
2 developmental regression 59 Occasional (29-5%)
3 bowel incontinence 59 Frequent (79-30%)
4 stereotypy 59 Frequent (79-30%)
5 intellectual disability, severe 59 Occasional (29-5%)
6 absent speech 59 Frequent (79-30%)
7 motor deterioration 59 Occasional (29-5%)
8 anxiety 59 Frequent (79-30%)
9 impaired social interactions 59 Frequent (79-30%)
10 dementia 59 Occasional (29-5%)
11 mental deterioration 59 Very frequent (99-80%)
12 urinary incontinence 59 Frequent (79-30%)
13 autistic behavior 59 Very frequent (99-80%)
14 progressive language deterioration 59 Very frequent (99-80%)
15 abnormal emotion/affect behavior 59 Very frequent (99-80%)
16 social and occupational deterioration 59 Frequent (79-30%)

MGI Mouse Phenotypes related to Childhood Disintegrative Disease:

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

Drugs & Therapeutics for Childhood Disintegrative Disease

Search Clinical Trials , 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:

41
Brain

Publications for Childhood Disintegrative Disease

Articles related to Childhood Disintegrative Disease:

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

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
Show member pathways
11.14 APP BDNF
3 11.05 BDNF MBP
4 10.66 APP MME
5 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 GO:0007612 9.4 APP SHANK3
2 synapse assembly GO:0007416 9.37 BDNF SHANK3
3 axon guidance GO:0007411 9.33 BDNF LGI1 SHANK3
4 learning or memory GO:0007611 9.32 APP SHANK3
5 neuromuscular process controlling balance GO:0050885 9.26 APP SHANK3
6 positive regulation of long-term synaptic potentiation GO:1900273 8.96 APP SHANK3
7 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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