Childhood Disintegrative Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Mental and behavioural disorders

Disorders of psychological development

Pervasive developmental disorders

Other childhood disintegrative disorder

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 191694008 192584009 71961003

Orphanet ⁵⁹ ORPHA168782

ICD10 via Orphanet ³⁴ F84.3

UMLS via Orphanet ⁷⁴ C0236791

UMLS ⁷³ C0236791 C0036939

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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...

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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:

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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

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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

Synonyms:

(2R)-2-acetylamino-3-Sulfanylpropanoate

(2R)-2-acetylamino-3-sulfanylpropanoic acid

(2R)-2-acetylamino-3-Sulfanylpropanoic acid

(2R)-2-acetylamino-3-Sulphanylpropanoate

(2R)-2-acetylamino-3-Sulphanylpropanoic acid

(R)-2-acetylamino-3-Mercaptopropanoate

(R)-2-acetylamino-3-mercaptopropanoic acid

(R)-2-acetylamino-3-Mercaptopropanoic acid

(R)-Mercaptate

(R)-Mercaptic acid

(R)-mercapturic acid

(R)-Mercapturic acid

2-acetylamino-3-mercapto-Propionate

2-acetylamino-3-mercapto-Propionic acid

Ac pharma brand OF acetylcysteine

ACC

Acebraus

Acemuc

Acetabs

Acetadote

Acetilcisteina

Acetylcystein al

Acetylcystein atid

Acetylcystein heumann

Acetylcystein trom

Acetylcystein, mentopin

Acetylcysteine ac-pharma brand

Acetylcysteine alcon brand

Acetylcysteine aluid brand

Acetylcysteine atid brand

Acetylcysteine azupharma brand

Acetylcysteine betapharm brand

Acetylcysteine bioiberica brand

Acetylcysteine bouchara brand

Acetylcysteine centrafarm brand

Acetylcysteine disphar brand

Acetylcysteine farmasan brand

Acetylcysteine fresenius brand

Acetylcysteine génévrier brand

Acétylcystéine GNR

Acetylcysteine GNR-pharma brand

Acetylcysteine guerbet brand

Acetylcysteine hermes brand

Acetylcysteine heumann brand

Acetylcysteine hydrochloride

Acetylcysteine inpharzam brand

Acetylcysteine intra brand

Acetylcysteine klinge brand

Acetylcysteine krewel brand

Acetylcysteine lichtenstein brand

Acetylcysteine lindopharm brand

Acetylcysteine merck brand

Acetylcysteine oberlin brand

Acetylcysteine pfleger brand

Acetylcysteine pharbita brand

Acetylcysteine roberts brand

Acetylcysteine sodium

Acetylcysteine temmler brand

Acetylcysteine teva brand

Acetylcysteine thiemann brand

Acetylcysteine trommsdorff brand

Acetylcysteine upsa brand

Acetylcysteine whitehall brand

Acetylcysteine zambon brand

Acetylcysteine zinc

Acetylcysteine zyma brand

Acetylcysteine, (D)-isomer

Acetylcysteine, (DL)-isomer

Acetylcysteine, monoammonium salt

Acetylcysteine, monosodium salt

Acetylcysteinum

Acetylin

Acetyst

Acid, mercapturic

Ac-pharma brand OF acetylcysteine

Airbron

Alcon brand OF acetylcysteine

Allen and hanburys brand OF acetylcysteine

Aluid brand OF acetylcysteine

Alveolex

Atid brand OF acetylcysteine

Azubronchin

Azupharma brand OF acetylcysteine

Betapharm brand OF acetylcysteine

Bioiberica brand OF acetylcysteine

Bisolvon nac

Boehringer ingelheim brand OF acetylcysteine

Bouchara brand OF acetylcysteine

Bristol myers squibb brand OF acetylcysteine

Bristol myers squibb brand OF acetylcysteine sodium salt

Bristol-myers squibb brand OF acetylcysteine

Bristol-myers squibb brand OF acetylcysteine sodium salt

Bromuc

broncho Fips

broncho-Fips

BronchoFips

Broncholysin

Broncoclar

Centrafarm brand OF acetylcysteine

Codotussyl

Cystamucil

dampo Mucopect

Dey brand OF acetylcysteine sodium salt

Disphar brand OF acetylcysteine

Durabronchal

Eurespiran

Exomuc

Fabrol

Farmasan brand OF acetylcysteine

Fluimicil infantil

Fluimucetin

Fluimucil

Flumucetin

Fluprowit

Frekatuss

Fresenius brand OF acetylcysteine

Genac

Génévrier brand OF acetylcysteine

GNR Pharma brand OF acetylcysteine

GNR-Pharma brand OF acetylcysteine

Guerbet brand OF acetylcysteine

Hermes brand OF acetylcysteine

Heumann brand OF acetylcysteine

Hoestil

Hustengetränk, optipect

Hydrochloride, acetylcysteine

Ilube

Inpharzam brand OF acetylcysteine

Intra brand OF acetylcysteine

Jenacystein

Jenapharm

Klinge brand OF acetylcysteine

Krewel brand OF acetylcysteine

L-a-acetamido-b-Mercaptopropionate

L-a-acetamido-b-Mercaptopropionic acid

L-acetylcysteine

L-Acetylcysteine

L-alpha-acetamido-beta-Mercaptopropionate

L-alpha-acetamido-beta-Mercaptopropionic acid

Lantamed

Larylin nac

Lichtenstein brand OF acetylcysteine

Lindocetyl

Lindopharm brand OF acetylcysteine

Lysox

L-α-acetamido-β-mercaptopropionate

L-α-acetamido-β-mercaptopropionic acid

m Pectil

Mentopin acetylcystein

Mercaptate

Mercaptic acid

Mercapturic acid

Merck brand OF acetylcysteine

Monoammonium salt acetylcysteine

Monosodium salt acetylcysteine

m-Pectil

MPectil

Muciteran

muco Sanigen

Mucolysin

Mucomyst

Mucopect, dampo

Mucosil

Mucosol

Mucosolvin

N Acetyl L cysteine

N Acetylcysteine

NAC

NAC al

NAC zambon

NAC, bisolvon

N-Acetyl-3-mercaptoalanine

N-acetylcysteine

N-Acetylcysteine

N-Acety-L-cysteine

N-acetyl-L-(+)-cysteine

N-Acetyl-L-(+)-cysteine

N-acetyl-L-cysteine

Oberlin brand OF acetylcysteine

Optipect hustengetränk

Parvolex

Pfleger brand OF acetylcysteine

Pharbita brand OF acetylcysteine

Produpharm lappe brand OF acetylcysteine

Roberts brand OF acetylcysteine

Roche nicholas brand OF acetylcysteine

Sanigen, muco

Siccoral

Siran

Sodium 2-acetamido-3-mercaptopropionate

Sodium, acetylcysteine

Solmucol

Temmler brand OF acetylcysteine

Teva brand OF acetylcysteine

Thiemann brand OF acetylcysteine

Trommsdorff brand OF acetylcysteine

UPSA brand OF acetylcysteine

Whitehall brand OF acetylcysteine

Zambon brand OF acetylcysteine

Zambon, nac

Zinc, acetylcysteine

Zyma brand OF acetylcysteine

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

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Genetic Tests for Childhood Disintegrative Disease

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Anatomical Context for Childhood Disintegrative Disease

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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 )	Shirazi E....Bidaki R.	2016
2	Childhood Disintegrative Disorder as a Complication of Chicken Pox. ( 27011406 )	Verma J.K....Mohapatra S.	2016
3	CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder. ( 26286102 )	Barone R....Garozzo D.	2015
4	Childhood disintegrative disorder: distinction from autistic disorder and predictors of outcome. ( 23340080 )	Rosman N.P....Bergia B.M.	2013
5	Brief report: childhood disintegrative disorder as a likely manifestation of vitamin B12 deficiency. ( 23334842 )	Malhotra S....Lahariya S.	2013
6	External validity of childhood disintegrative disorder in comparison with autistic disorder. ( 15264502 )	Kurita H....Miyake Y.	2004
7	Validity of childhood disintegrative disorder apart from autistic disorder with speech loss. ( 15365892 )	Kurita H....Osada H.	2004

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Genes for Childhood Disintegrative Disease

Genes related to Childhood Disintegrative Disease (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SHANK3	SH3 And Multiple Ankyrin Repeat Domains 3	Protein Coding	15.64	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
2	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit	Protein Coding	15.56	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	HEXA	Hexosaminidase Subunit Alpha	Protein Coding	15.08	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	LGI1	Leucine Rich Glioma Inactivated 1	Protein Coding	14.97	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	MBP	Myelin Basic Protein	Protein Coding	13.97	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	13.66	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	MME	Membrane Metalloendopeptidase	Protein Coding	13.64	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	APP	Amyloid Beta Precursor Protein	Protein Coding	13.23	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	POMC	Proopiomelanocortin	Protein Coding	13.07	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	CARS	Cysteinyl-TRNA Synthetase	Protein Coding	5.07	DISEASES inferred ¹⁵

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Variations for Childhood Disintegrative Disease

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Expression for Childhood Disintegrative Disease

Search GEO for disease gene expression data for Childhood Disintegrative Disease.

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Pathways for Childhood Disintegrative Disease

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

#	Super pathways	Score	Top Affiliating Genes
1	Neuroscience ⁴	11.46	APP MBP POMC SHANK3
2	MECP2 and Associated Rett Syndrome ¹	11.05	BDNF MBP
3	A-beta Pathways: Uptake and Degradation ⁶⁵	10.66	APP MME
4	A-beta Pathways: Plaque Formation and APP Metabolism ⁶⁵	10.32	APP MME

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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

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Sources for Childhood Disintegrative Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia