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 54
Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency 54 30 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, muscle cramp and facial paresis. 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 11.8
2 congenital myasthenic syndrome 9.5 CHRNE GFPT1

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

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


ophthalmoparesis, muscle cramp, facial paresis

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 30 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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