MCID: CHL012
MIFTS: 31

Childhood Disintegrative Disease

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Childhood Disintegrative Disease

MalaCards integrated aliases for Childhood Disintegrative Disease:

Name: Childhood Disintegrative Disease 12 14
Childhood Disintegrative Disorder 50 24 56 69
Disintegrative Psychosis Nos 12
Shared Paranoid Disorder 69
Symbiotic Psychosis 12
Dementia Infantilis 56
Heller's Syndrome 12
Heller Syndrome 56

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:13487
ICD10 33 F84.3
ICD9CM 35 299.1
NCIt 47 C97164
Orphanet 56 ORPHA168782
UMLS via Orphanet 70 C0236791
ICD10 via Orphanet 34 F84.3
UMLS 69 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 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

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

(show all 36)
id Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 10.8
2 asperger syndrome 10.8
3 pervasive developmental disorder 10.8
4 familial partial lipodystrophy 10.4 GABRB3 SHANK3
5 3-hydroxyacyl-coa dehydrogenase deficiency 10.4 HEXA MBP
6 endotheliitis 10.3 BDNF MBP
7 transsexualism 10.3 BDNF LGI1
8 ulcerative colitis 10.3 BDNF MBP
9 brain meningioma 10.2 BDNF MBP
10 atypical autism 10.1 BDNF GABRB3 SHANK3
11 chronic conjunctivitis 10.1 BDNF GABRB3 SHANK3
12 mixed cell adenoma 10.1 HEXA LGI1 MBP
13 dysbaric osteonecrosis 10.1 APP GABRB3
14 sexual disorder 10.1 BDNF GABRB3 SHANK3
15 early onset absence epilepsy 10.0 GABRB3 POMC
16 chronic duodenal ileus 10.0 MBP POMC
17 autistic disorder 10.0
18 postmenopausal atrophic vaginitis 9.9 APP BDNF
19 autosomal dominant nonsyndromic deafness 9.9 GABRB3 POMC
20 cystadenoma 9.8 APP BDNF
21 malignant sertoli-leydig cell tumor 9.8 MME POMC
22 keratosis 9.8 BDNF POMC
23 ovarian cystadenocarcinoma 9.8 APP BDNF
24 vestibular gland benign neoplasm 9.8 MME POMC
25 mutism 9.7
26 vitamin b12 deficiency 9.7
27 autoimmune-related retinopathy and optic neuropathy 9.7 BDNF GABRB3 MBP SHANK3
28 late yaws 9.7 APP BDNF MBP
29 prostate carcinoma in situ 9.7 APP BDNF MBP
30 hepatic angiomyolipoma 9.7 APP BDNF MBP
31 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.6 APP MME
32 hallucinogen dependence 9.6 BDNF POMC
33 epileptic encephalopathy, early infantile, 45 9.6 BDNF GABRB3 POMC
34 perinatal necrotizing enterocolitis 9.3 BDNF POMC
35 personality disorder 9.0 APP BDNF POMC SHANK3
36 active cochlear meniere's disease 6.5 APP BDNF CARS GABRB3 HEXA LGI1

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:

44
id 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 GABRB3 HEXA MBP SHANK3 BDNF
6 nervous system MP:0003631 9.76 APP BDNF GABRB3 HEXA LGI1 MBP
7 no phenotypic analysis MP:0003012 9.35 GABRB3 POMC SHANK3 APP BDNF
8 vision/eye MP:0005391 9.02 BDNF HEXA LGI1 MBP SHANK3

Drugs & Therapeutics for Childhood Disintegrative Disease

Interventional clinical trials:


id 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

Genetic tests related to Childhood Disintegrative Disease:

id Genetic test Affiliating Genes
1 Childhood Disintegrative Disorder 24

Anatomical Context for Childhood Disintegrative Disease

Publications for Childhood Disintegrative Disease

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:

id Super pathways Score Top Affiliating Genes
1 11.84 APP MBP POMC
2 11.05 BDNF MBP
3 10.5 APP MME
4 10.04 APP MME

GO Terms for Childhood Disintegrative Disease

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 synapse assembly GO:0007416 9.32 BDNF SHANK3
2 learning or memory GO:0007611 9.26 APP SHANK3
3 neuromuscular process controlling balance GO:0050885 9.16 APP SHANK3
4 axon guidance GO:0007411 9.13 BDNF LGI1 SHANK3
5 learning GO:0007612 9.07 SHANK3
6 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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