MCID: CNG113
MIFTS: 9

Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency

Categories: Rare diseases

Aliases & Classifications for Congenital Myasthenic Syndrome Associated with Acetylcholine...

MalaCards integrated aliases for Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency:

Name: Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 53
Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency 53 29 13 6

Classifications:



Summaries for Congenital Myasthenic Syndrome Associated with Acetylcholine...

MalaCards based summary : Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency, also known as myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, is related to myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency and congenital myasthenic syndrome, and has symptoms including ophthalmoparesis, facial paresis and muscle cramp. An important gene associated with Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency is CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit).

Related Diseases for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Diseases related to Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 11.7
2 congenital myasthenic syndrome 9.7 CHRNE GFPT1

Symptoms & Phenotypes for Congenital Myasthenic Syndrome Associated with Acetylcholine...

UMLS symptoms related to Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency:


ophthalmoparesis, facial paresis, muscle cramp

Drugs & Therapeutics for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Search Clinical Trials , NIH Clinical Center for Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency

Genetic Tests for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Genetic tests related to Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency 29 CHRNE GFPT1

Anatomical Context for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Publications for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Variations for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Expression for Congenital Myasthenic Syndrome Associated with Acetylcholine...

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

Pathways for Congenital Myasthenic Syndrome Associated with Acetylcholine...

GO Terms for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Sources for Congenital Myasthenic Syndrome Associated with Acetylcholine...

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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