EEOC
MCID: CHD007
MIFTS: 17

Chd2 Myoclonic Encephalopathy (EEOC)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Chd2 Myoclonic Encephalopathy

MalaCards integrated aliases for Chd2 Myoclonic Encephalopathy:

Name: Chd2 Myoclonic Encephalopathy 53 25
Epileptic Encephalopathy, Childhood-Onset 53 73
Chd2-Related Neurodevelopmental Disorders 53 25
Chd2 Encephalopathy 53 25
Encephalopathy, Epileptic, Childhood-Onset 40
Childhood-Onset Epileptic Encephalopathy 53
Eeoc 53

Classifications:



External Ids:

UMLS 73 C3809278

Summaries for Chd2 Myoclonic Encephalopathy

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.

MalaCards based summary : Chd2 Myoclonic Encephalopathy, also known as epileptic encephalopathy, childhood-onset, is related to epileptic encephalopathy, childhood-onset and chd2-related neurodevelopmental disorders, and has symptoms including seizures, absence seizures and myoclonic seizures. An important gene associated with Chd2 Myoclonic Encephalopathy is CHD2 (Chromodomain Helicase DNA Binding Protein 2). Affiliated tissues include brain.

Related Diseases for Chd2 Myoclonic Encephalopathy

Diseases related to Chd2 Myoclonic Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, childhood-onset 12.8
2 chd2-related neurodevelopmental disorders 12.5
3 encephalopathy 10.2
4 autism 10.0
5 microvascular complications of diabetes 3 10.0
6 microvascular complications of diabetes 4 10.0
7 microvascular complications of diabetes 6 10.0
8 microvascular complications of diabetes 7 10.0
9 brain injury 10.0
10 traumatic brain injury 10.0
11 multiple chemical sensitivity 10.0
12 overuse syndrome 10.0
13 repetitive motion disorders 10.0
14 cumulative trauma disorders 10.0

Graphical network of the top 20 diseases related to Chd2 Myoclonic Encephalopathy:



Diseases related to Chd2 Myoclonic Encephalopathy

Symptoms & Phenotypes for Chd2 Myoclonic Encephalopathy

UMLS symptoms related to Chd2 Myoclonic Encephalopathy:


seizures, absence seizures, myoclonic seizures

Drugs & Therapeutics for Chd2 Myoclonic Encephalopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Memantine for Epileptic Encephalopathy Not yet recruiting NCT03779672 Phase 4 Memantine Hydrochloride 10 mg

Search NIH Clinical Center for Chd2 Myoclonic Encephalopathy

Genetic Tests for Chd2 Myoclonic Encephalopathy

Anatomical Context for Chd2 Myoclonic Encephalopathy

MalaCards organs/tissues related to Chd2 Myoclonic Encephalopathy:

41
Brain

Publications for Chd2 Myoclonic Encephalopathy

Articles related to Chd2 Myoclonic Encephalopathy:

# Title Authors Year
1
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. ( 25672921 )
2015
2
CHD2-Related Neurodevelopmental Disorders ( 26677509 )
1993

Variations for Chd2 Myoclonic Encephalopathy

Expression for Chd2 Myoclonic Encephalopathy

Search GEO for disease gene expression data for Chd2 Myoclonic Encephalopathy.

Pathways for Chd2 Myoclonic Encephalopathy

GO Terms for Chd2 Myoclonic Encephalopathy

Sources for Chd2 Myoclonic Encephalopathy

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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