EEOC
MCID: CHD006
MIFTS: 19

Chd2-Related Neurodevelopmental Disorders (EEOC)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Chd2-Related Neurodevelopmental Disorders

MalaCards integrated aliases for Chd2-Related Neurodevelopmental Disorders:

Name: Chd2-Related Neurodevelopmental Disorders 24 52 25
Chd2 Myoclonic Encephalopathy 52 25
Chd2 Encephalopathy 52 25
Epileptic Encephalopathy, Childhood-Onset 52
Childhood-Onset Epileptic Encephalopathy 52
Eeoc 52

Characteristics:

GeneReviews:

24
Penetrance Penetrance for chd2-related neurodevelopmental disorders is unknown but assumed to be complete.

Classifications:



Summaries for Chd2-Related Neurodevelopmental Disorders

Genetics Home Reference : 25 CHD2 myoclonic encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. Epilepsy begins in childhood, typically between ages 6 months and 4 years. Each individual may experience a variety of seizure types. The most common are myoclonic seizures, which involve involuntary muscle twitches. Other seizure types include sudden episodes of weak muscle tone (atonic seizures); partial or complete loss of consciousness (absence seizures); seizures brought on by high body temperature (febrile seizure); or tonic-clonic seizures, which involve loss of consciousness, muscle rigidity, and convulsions. Some people with CHD2 myoclonic encephalopathy have photosensitive epilepsy, in which seizures are triggered by flashing lights. Some people with CHD2 myoclonic encephalopathy experience a type of seizure called atonic-myoclonic-absence seizure, which begins with a drop of the head, followed by loss of consciousness, then rigid movements of the arms. Epilepsy can worsen, causing prolonged episodes of seizure activity that last several minutes, known as status epilepticus. The seizures associated with CHD2 myoclonic encephalopathy are called refractory because they usually do not respond to therapy with anti-epileptic medications. CHD2 CHD2 CHD2 CHD2 Other signs and symptoms of CHD2 myoclonic encephalopathy include intellectual disability that ranges from mild to severe and delayed development of speech. Rarely, individuals can have a loss of acquired skills (developmental regression) following the onset of epilepsy. Some people with CHD2 myoclonic encephalopathy have autism spectrum disorders, which are conditions characterized by impaired communication and social interaction. In some instances, areas with a loss of brain tissue (atrophy) have been found with medical imaging. CHD2 CHD2

MalaCards based summary : Chd2-Related Neurodevelopmental Disorders, also known as chd2 myoclonic encephalopathy, is related to epileptic encephalopathy, childhood-onset and visual epilepsy. An important gene associated with Chd2-Related Neurodevelopmental Disorders is CHD2 (Chromodomain Helicase DNA Binding Protein 2). The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and cortex.

GeneReviews: NBK333201

Related Diseases for Chd2-Related Neurodevelopmental Disorders

Diseases in the Chd2-Related Neurodevelopmental Disorders family:

Grin1-Related Neurodevelopmental Disorder Grin2b-Related Neurodevelopmental Disorder
Ppp2r5d-Related Neurodevelopmental Disorder Pura-Related Neurodevelopmental Disorders

Diseases related to Chd2-Related Neurodevelopmental Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, childhood-onset 11.7
2 visual epilepsy 10.2
3 status epilepticus 10.2
4 early myoclonic encephalopathy 10.2
5 seizure disorder 10.2
6 alacrima, achalasia, and mental retardation syndrome 10.2
7 lennox-gastaut syndrome 10.2
8 autism spectrum disorder 10.2
9 myoclonus 10.2
10 myoclonic-astastic epilepsy 10.2
11 west syndrome 10.2
12 epilepsy 10.2
13 autism 10.1
14 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
15 branchiootic syndrome 1 10.1
16 hypertensive nephropathy 10.1
17 human immunodeficiency virus type 1 10.1
18 microvascular complications of diabetes 3 10.1
19 microvascular complications of diabetes 4 10.1
20 microvascular complications of diabetes 6 10.1
21 microvascular complications of diabetes 7 10.1
22 multiple chemical sensitivity 10.1
23 kidney disease 10.1
24 end stage renal failure 10.1
25 chronic kidney disease 10.1
26 brain injury 10.1
27 cumulative trauma disorders 10.1
28 overuse syndrome 10.1
29 repetitive motion disorders 10.1
30 traumatic brain injury 10.1
31 tuberous sclerosis 1 10.1
32 cortical dysplasia, complex, with other brain malformations 7 10.1
33 tuberous sclerosis 10.1
34 encephalopathy 10.1

Graphical network of the top 20 diseases related to Chd2-Related Neurodevelopmental Disorders:



Diseases related to Chd2-Related Neurodevelopmental Disorders

Symptoms & Phenotypes for Chd2-Related Neurodevelopmental Disorders

Drugs & Therapeutics for Chd2-Related Neurodevelopmental Disorders

Drugs for Chd2-Related Neurodevelopmental Disorders (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Memantine Approved, Investigational Phase 4 19982-08-2 4054
3
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
4 Neurotransmitter Agents Phase 4
5 Dopamine Agents Phase 4
6 Antiparkinson Agents Phase 4
7 N-Methylaspartate Phase 4
8 Excitatory Amino Acid Antagonists Phase 4
9 Excitatory Amino Acids Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Double-blind Placebo-controlled Trial of Memantine Hydrochloride for the Treatment of Childhood-onset Epileptic Encephalopathies Recruiting NCT03779672 Phase 4 Memantine Hydrochloride 10 mg

Search NIH Clinical Center for Chd2-Related Neurodevelopmental Disorders

Genetic Tests for Chd2-Related Neurodevelopmental Disorders

Anatomical Context for Chd2-Related Neurodevelopmental Disorders

MalaCards organs/tissues related to Chd2-Related Neurodevelopmental Disorders:

40
Brain, Kidney, Cortex

Publications for Chd2-Related Neurodevelopmental Disorders

Articles related to Chd2-Related Neurodevelopmental Disorders:

(show all 31)
# Title Authors PMID Year
1
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. 61 24
25672921 2015
2
CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures. 24
26262932 2015
3
CHD2 is Required for Embryonic Neurogenesis in the Developing Cerebral Cortex. 24
25786798 2015
4
CHD2 variants are a risk factor for photosensitivity in epilepsy. 24
25783594 2015
5
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. 24
25865495 2015
6
Large-scale discovery of novel genetic causes of developmental disorders. 24
25533962 2015
7
Human CHD2 is a chromatin assembly ATPase regulated by its chromo- and DNA-binding domains. 24
25384982 2015
8
Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 24
25418537 2014
9
De novo mutations in moderate or severe intellectual disability. 24
25356899 2014
10
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. 24
24932903 2014
11
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 24
24768552 2014
12
CHD2 mutations in Lennox-Gastaut syndrome. 24
24614520 2014
13
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. 24
24834135 2014
14
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 24
24207121 2013
15
De novo mutations in epileptic encephalopathies. 24
23934111 2013
16
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 24
23708187 2013
17
Copy number variants in adult patients with Lennox-Gastaut syndrome features. 24
23415449 2013
18
Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders. 24
23134727 2012
19
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 24
23020937 2012
20
Chd2 interacts with H3.3 to determine myogenic cell fate. 24
22569126 2012
21
Patterns and rates of exonic de novo mutations in autism spectrum disorders. 24
22495311 2012
22
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. 24
22178256 2012
23
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 24
21555602 2011
24
Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy. 24
21723464 2011
25
The genetics of Dravet syndrome. 24
21463275 2011
26
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 24
20196795 2010
27
A mutation in the mouse Chd2 chromatin remodeling enzyme results in a complex renal phenotype. 24
19142019 2008
28
The Chd family of chromatin remodelers. 24
17350655 2007
29
Mutation of the SNF2 family member Chd2 affects mouse development and survival. 24
16810678 2006
30
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter. 61
29740950 2018
31
CHD2-Related Neurodevelopmental Disorders 61
26677509 2015

Variations for Chd2-Related Neurodevelopmental Disorders

Expression for Chd2-Related Neurodevelopmental Disorders

Search GEO for disease gene expression data for Chd2-Related Neurodevelopmental Disorders.

Pathways for Chd2-Related Neurodevelopmental Disorders

GO Terms for Chd2-Related Neurodevelopmental Disorders

Sources for Chd2-Related Neurodevelopmental Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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