MCID: CNG459
MIFTS: 4

Congenital Myopathy with Myasthenic-Like Onset

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Myopathy with Myasthenic-Like Onset

MalaCards integrated aliases for Congenital Myopathy with Myasthenic-Like Onset:

Name: Congenital Myopathy with Myasthenic-Like Onset 59

Characteristics:

Orphanet epidemiological data:

59
congenital myopathy with myasthenic-like onset
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA424107
ICD10 via Orphanet 34 G71.2

Summaries for Congenital Myopathy with Myasthenic-Like Onset

MalaCards based summary : Congenital Myopathy with Myasthenic-Like Onset An important gene associated with Congenital Myopathy with Myasthenic-Like Onset is RYR1 (Ryanodine Receptor 1).

Related Diseases for Congenital Myopathy with Myasthenic-Like Onset

Symptoms & Phenotypes for Congenital Myopathy with Myasthenic-Like Onset

Drugs & Therapeutics for Congenital Myopathy with Myasthenic-Like Onset

Search Clinical Trials , NIH Clinical Center for Congenital Myopathy with Myasthenic-Like Onset

Genetic Tests for Congenital Myopathy with Myasthenic-Like Onset

Anatomical Context for Congenital Myopathy with Myasthenic-Like Onset

Publications for Congenital Myopathy with Myasthenic-Like Onset

Variations for Congenital Myopathy with Myasthenic-Like Onset

Expression for Congenital Myopathy with Myasthenic-Like Onset

Search GEO for disease gene expression data for Congenital Myopathy with Myasthenic-Like Onset.

Pathways for Congenital Myopathy with Myasthenic-Like Onset

GO Terms for Congenital Myopathy with Myasthenic-Like Onset

Sources for Congenital Myopathy with Myasthenic-Like Onset

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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