MCID: CNG459
MIFTS: 13

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


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 phenotypes are ptosis and gait disturbance

Related Diseases for Congenital Myopathy with Myasthenic-Like Onset

Symptoms & Phenotypes for Congenital Myopathy with Myasthenic-Like Onset

Human phenotypes related to Congenital Myopathy with Myasthenic-Like Onset:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
3 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
4 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
5 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
6 respiratory insufficiency due to muscle weakness 59 32 very rare (1%) Very rare (<4-1%) HP:0002747
7 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
8 scapular winging 59 32 frequent (33%) Frequent (79-30%) HP:0003691
9 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
10 malignant hyperthermia 59 32 frequent (33%) Frequent (79-30%) HP:0002047
11 easy fatigability 59 32 frequent (33%) Frequent (79-30%) HP:0003388
12 type 1 muscle fiber predominance 59 32 frequent (33%) Frequent (79-30%) HP:0003803
13 areflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001284
14 proximal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003701
15 myopathic facies 59 32 frequent (33%) Frequent (79-30%) HP:0002058
16 ophthalmoplegia 59 32 very rare (1%) Very rare (<4-1%) HP:0000602
17 fatigable weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003473
18 multiple joint contractures 59 32 frequent (33%) Frequent (79-30%) HP:0002828
19 minicore myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003789
20 infantile axial hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0009062
21 myopathy 59 Frequent (79-30%)
22 elevated serum creatine phosphokinase 59 Excluded (0%)
23 emg: myopathic abnormalities 59 Frequent (79-30%)
24 rhabdomyolysis 59 Excluded (0%)
25 rectus femoris muscle atrophy 59 Excluded (0%)
26 emg 32 frequent (33%) HP:0003458

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

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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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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