FIM
MCID: CNG114

Congenital Myasthenic Syndrome with Episodic Apnea (FIM) malady

Genetic category

Summaries for Congenital Myasthenic Syndrome with Episodic Apnea

Sources:
33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Congenital Myasthenic Syndrome with Episodic Apnea, also known as congenital myasthenic syndrome type 1a, is related to myasthenic syndrome, congenital, associated with episodic apnea and tropical spastic paraparesis. An important gene associated with Congenital Myasthenic Syndrome with Episodic Apnea is CHAT (choline O-acetyltransferase).

Aliases & Classifications for Congenital Myasthenic Syndrome with Episodic Apnea

Sources:
43NIH Rare Diseases, 61UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

congenital myasthenic syndrome with episodic apnea 43
congenital myasthenic syndrome type 1a 43
familial infantile myasthenia 61
cms-ea 43
cms1a 43
fimg2 43
fim 43


Related Diseases for Congenital Myasthenic Syndrome with Episodic Apnea

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the congenital myasthenic syndrome family:

congenital myasthenic syndrome with episodic apnea congenital myasthenic syndrome with tubular aggregates 2

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

idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, congenital, associated with episodic apnea10.2
2tropical spastic paraparesis10.0
3quadriplegia10.0
4spastic paraparesis10.0
5chronic pain10.0
6myeloproliferative disorder10.0

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



Diseases related to congenital myasthenic syndrome with episodic apnea

Clinical Features for Congenital Myasthenic Syndrome with Episodic Apnea

Drugs & Therapeutics for Congenital Myasthenic Syndrome with Episodic Apnea

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Congenital Myasthenic Syndrome with Episodic Apnea

Drug clinical trials:

Search ClinicalTrials for Congenital Myasthenic Syndrome with Episodic Apnea

Search NIH Clinical Center for Congenital Myasthenic Syndrome with Episodic Apnea

Search CenterWatch for Congenital Myasthenic Syndrome with Episodic Apnea

Genetic Tests for Congenital Myasthenic Syndrome with Episodic Apnea

Anatomical Context for Congenital Myasthenic Syndrome with Episodic Apnea

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

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Congenital Myasthenic Syndrome with Episodic Apnea

Genetic Variations for Congenital Myasthenic Syndrome with Episodic Apnea

Expression for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

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

Compounds for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

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

Products for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Myasthenic Syndrome with Episodic Apnea

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet