MCID: MYS020

Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency malady

Summaries for Myasthenic Syndrome, Congenital, Associated with Facial...

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency An important gene associated with Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency is RAPSN (receptor-associated protein of the synapse).

Description from OMIM:47 608931

Aliases & Classifications for Myasthenic Syndrome, Congenital, Associated with Facial...

Sources:
47OMIM
See all sources

Aliases & Descriptions:

myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency 47


Related Diseases for Myasthenic Syndrome, Congenital, Associated with Facial...

Clinical Features for Myasthenic Syndrome, Congenital, Associated with Facial...

Sources:
47OMIM
See all sources

Clinical features from OMIM:

608931

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, Associated with Facial...

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

Approved drugs:

Search CenterWatch for Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency

Drug clinical trials:

Search ClinicalTrials for Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency

Search NIH Clinical Center for Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency

Search CenterWatch for Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency

Genetic Tests for Myasthenic Syndrome, Congenital, Associated with Facial...

Anatomical Context for Myasthenic Syndrome, Congenital, Associated with Facial...

Animal Models for Myasthenic Syndrome, Congenital, Associated with Facial... or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Myasthenic Syndrome, Congenital, Associated with Facial...

Genetic Variations for Myasthenic Syndrome, Congenital, Associated with Facial...

Expression for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Facial...

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency.

Pathways for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Facial...

Compounds for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Facial...

GO Terms for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Facial...

Products for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Facial...

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myasthenic Syndrome, Congenital, Associated with Facial...

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