FIM
MCID: CNG114
MIFTS: 10

Congenital Myasthenic Syndrome with Episodic Apnea (FIM) malady

Genetic diseases category

Summaries for Congenital Myasthenic Syndrome with Episodic Apnea

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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 hemiplegia. 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

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42NIH Rare Diseases, 60UMLS
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Classifications:

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


Aliases & Descriptions:

congenital myasthenic syndrome with episodic apnea 42
congenital myasthenic syndrome type 1a 42
familial infantile myasthenia 60
cms-ea 42
cms1a 42
fimg2 42
fim 42


Related Diseases for Congenital Myasthenic Syndrome with Episodic Apnea

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17GeneCards, 18GeneDecks
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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
2hemiplegia10.1
3pyelonephritis10.1
4tropical spastic paraparesis10.0
5quadriplegia10.0
6myelofibrosis10.0
7ovarian cancer10.0

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

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Drugs & Therapeutics for Congenital Myasthenic Syndrome with Episodic Apnea

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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

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Anatomical Context for Congenital Myasthenic Syndrome with Episodic Apnea

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

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Publications for Congenital Myasthenic Syndrome with Episodic Apnea

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Genetic Variations for Congenital Myasthenic Syndrome with Episodic Apnea

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Expression for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

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

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Products for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Myasthenic Syndrome with Episodic Apnea

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet