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 60

Characteristics:

Orphanet epidemiological data:

60
congenital myopathy with myasthenic-like onset
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
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 fatigable weakness and ptosis

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:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigable weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003473
2 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
3 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
4 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
5 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
6 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
7 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
8 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
9 scapular winging 60 33 frequent (33%) Frequent (79-30%) HP:0003691
10 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
11 malignant hyperthermia 60 33 frequent (33%) Frequent (79-30%) HP:0002047
12 multiple joint contractures 60 33 frequent (33%) Frequent (79-30%) HP:0002828
13 easy fatigability 60 33 frequent (33%) Frequent (79-30%) HP:0003388
14 type 1 muscle fiber predominance 60 33 frequent (33%) Frequent (79-30%) HP:0003803
15 areflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001284
16 proximal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003701
17 myopathic facies 60 33 frequent (33%) Frequent (79-30%) HP:0002058
18 minicore myopathy 60 33 frequent (33%) Frequent (79-30%) HP:0003789
19 infantile axial hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0009062
20 respiratory insufficiency due to muscle weakness 60 33 very rare (1%) Very rare (<4-1%) HP:0002747
21 ophthalmoplegia 60 33 very rare (1%) Very rare (<4-1%) HP:0000602
22 myopathy 60 Frequent (79-30%)
23 elevated serum creatine phosphokinase 60 Excluded (0%)
24 rectus femoris muscle atrophy 60 Excluded (0%)
25 rhabdomyolysis 60 Excluded (0%)

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 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
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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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