MCID: CNG114
MIFTS: 18

Congenital Myasthenic Syndrome with Episodic Apnea malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Myasthenic Syndrome with Episodic Apnea

About this section

Aliases & Descriptions for Congenital Myasthenic Syndrome with Episodic Apnea:

Name: Congenital Myasthenic Syndrome with Episodic Apnea 45
Myasthenia Familial Infantile 45 24
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea 45
Myasthenic Syndrome Congenital Associated with Episodic Apnea 45
Congenital Myasthenic Syndrome Type 1a 45
Myasthenia Gravis Familial Infantile 2 45
 
Familial Infantile Myasthenia 65
Cms-Ea 45
Cms1a 45
Fimg2 45
Fim 45

Classifications:



External Ids:

UMLS65 C0393929

Summaries for Congenital Myasthenic Syndrome with Episodic Apnea

About this section
MalaCards based summary: Congenital Myasthenic Syndrome with Episodic Apnea, also known as myasthenia familial infantile, is related to myasthenic syndrome, congenital, 1a, slow-channel and myasthenic syndrome, congenital, 6, presynaptic, and has symptoms including ophthalmoparesis, ophthalmoparesis and respiratory distress. An important gene associated with Congenital Myasthenic Syndrome with Episodic Apnea is CHAT (Choline O-Acetyltransferase). Affiliated tissues include brain and endothelial.

Related Diseases for Congenital Myasthenic Syndrome with Episodic Apnea

About this section

Diseases related to Congenital Myasthenic Syndrome with Episodic Apnea via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, congenital, 1a, slow-channel11.3
2myasthenic syndrome, congenital, 6, presynaptic11.2
3congenital myasthenic syndrome10.3
4hemiplegia10.0
5pyelonephritis10.0
6myelofibrosis9.8
7quadriplegia9.8
8ovarian cancer9.8
9tropical spastic paraparesis9.8
10neuromuscular disease9.8
11spastic paraparesis9.8
12chronic pain9.8
13spasticity9.8

Graphical network of diseases related to Congenital Myasthenic Syndrome with Episodic Apnea:



Diseases related to congenital myasthenic syndrome with episodic apnea

Symptoms for Congenital Myasthenic Syndrome with Episodic Apnea

About this section

UMLS symptoms related to Congenital Myasthenic Syndrome with Episodic Apnea:


ophthalmoparesis, respiratory distress

Drugs & Therapeutics for Congenital Myasthenic Syndrome with Episodic Apnea

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Congenital Myasthenic Syndrome with Episodic Apnea

Genetic Tests for Congenital Myasthenic Syndrome with Episodic Apnea

About this section

Anatomical Context for Congenital Myasthenic Syndrome with Episodic Apnea

About this section

MalaCards organs/tissues related to Congenital Myasthenic Syndrome with Episodic Apnea:

33
Brain, Endothelial

Animal Models for Congenital Myasthenic Syndrome with Episodic Apnea or affiliated genes

About this section

Publications for Congenital Myasthenic Syndrome with Episodic Apnea

About this section

Articles related to Congenital Myasthenic Syndrome with Episodic Apnea:

idTitleAuthorsYear
1
Congenital myasthenic syndrome with episodic apnea. (19520274)
2009
2
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. (15701560)
2005
3
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. (12756141)
2003

Variations for Congenital Myasthenic Syndrome with Episodic Apnea

About this section

Expression for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

About this section
Search GEO for disease gene expression data for Congenital Myasthenic Syndrome with Episodic Apnea.

Pathways for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

About this section

GO Terms for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

About this section

Sources for Congenital Myasthenic Syndrome with Episodic Apnea

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet