MCID: MYP011
MIFTS: 42

Myopathy Congenital malady

Neuronal diseases category

Summaries for Myopathy Congenital

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43NINDS, 63Wikipedia, 32MalaCards
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NINDS:43 A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up.

MalaCards: Myopathy Congenital, also known as congenital myopathy, is related to myopathy and central core myopathy. An important gene associated with Myopathy Congenital is ACTA1 (actin, alpha 1, skeletal muscle), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Actin Nucleation by ARP-WASP Complex. The compounds chloroquine and carnitine have been mentioned in the context of this disorder. Affiliated tissues include brain and skeletal muscle, and related mouse phenotypes are skeleton and adipose tissue.

Wikipedia:63 Congenital myopathy is a term for any muscle disorder present at birth. This defect of either the brain,... more...

Aliases & Classifications for Myopathy Congenital

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Sources:
42NIH Rare Diseases, 22GTR, 43NINDS, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

myopathy congenital 42
congenital myopathy 42 22 43 48
batten turner congenital myopathy 42
myopathy - congenital 43
myopathy, congenital 44


External Ids:

ICD10 via Orphanet26 G71.2
UMLS via Orphanet61 C0270960

Related Diseases for Myopathy Congenital

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Myopathy family:

Gne-Related Myopathy myopathy congenital
Sepn1-Related Myopathy Myopathy Due to Calsequestrin and Serca1 Protein Overload

Diseases related to Myopathy Congenital via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy35.6DMD, ITGA7, MTM1, DES, MYOT, MYH6
2central core myopathy35.3GAA, DES, MYOT, RYR1
3centronuclear myopathy35.2DMD, MTM1, DES, RYR1, TTN
4muscular dystrophy35.0LOC619409, DYSF, TTN, MYOT, DES, ITGA7
5facioscapulohumeral muscular dystrophy34.7GAA, DMD
6myotonic dystrophy34.7GAA, DMD, MTM1, MYOG, INSR, RYR1
7congenital fiber-type disproportion30.6RYR1, ACTA1
8nemaline myopathy30.2DES, MYOT, RYR1, ACTA1
9becker muscular dystrophy30.0DMD, DYSF
10malignant hyperthermia29.8RYR1, DNAH8
11myofibrillar myopathy29.8RPS27A, DES
12limb-girdle muscular dystrophy29.8DYSF, DMD
13myositis29.8RPS27A, DYSF, DMD, RYR1, TTN
14glycogen storage disease ii13.3PYGM, GAA, DMD
15noonan syndrome13.3DYSF, GAA, DMD, DES, MYOT, MYH6
16danon disease13.3GAA
17alveolar rhabdomyosarcoma13.3DES, MYOG
18carotid artery dissection13.3GAA
19protein s deficiency13.3DYSF, GAA, DMD
20duchenne muscular dystrophy13.3TTN, DES, ITGA7, DMD, GAA
21oculopharyngeal muscular dystrophy13.3RPS27A, GAA
22alveolar soft part sarcoma13.3DES, MYOG
23hypertrophic cardiomyopathy13.3TTN, MYH6, GAA
24metabolic syndrome x13.3PYGM, GAA, DNAH8, INSR
25cataract13.3DNAH8, RPS27A, LOC619409
26congenital heart defect13.3GAA, DMD, MYH6, INSR, RYR1, TTN
27embryonal rhabdomyosarcoma13.3MYOG, DES
28glycogen storage disease13.3PYGM, GAA, DMD
29hypertrophy of breast13.3DYSF, GAA, DMD, MYH6, MYOG, DNAH8
30leiomyoma13.3INSR, MYOG, DES
31leiomyosarcoma13.3DES, MYOG
32malignant mesenchymoma13.3MYOG
33motor neuron disease13.3RPS27A, GAA, RYR1
34neuromuscular disease13.3MYOT, DNAH8, RYR1, TTN, ACTA1, DES
35neuropathy13.3DYSF, DMD, MTM1, MYOT, MYOG, DNAH8
36pseudosarcomatous fibromatosis13.3DES, MYOG
37respiratory failure13.3LOC619409, GAA, DNAH8, RYR1, TTN, ACTA1
38retinoblastoma13.3RPS27A, MYOG, INSR, TTN
39rhabdomyosarcoma13.3DMD, DES, MYOG, DNAH8, TTN
40mitochondrial disorders13.3PYGM, GAA
41fukuyama type muscular dystrophy13.3ITGA7, DMD
42rigid spine syndrome13.3DMD, GAA, LOC619409
43myoglobinuria recurrent13.3PYGM, DMD
44polymyositis13.3RPS27A, DYSF, GAA, DMD, TTN
45insulin resistance13.3INSR, DNAH8, PYGM, RPS27A
46centronuclear myopathy 410.1
47congenital myopathy, paradas type10.1
48benign samaritan congenital myopathy10.1
49bethlem myopathy10.0
50congenital muscular dystrophy10.0

Graphical network of the top 20 diseases related to Myopathy Congenital:



Diseases related to myopathy congenital

Clinical Features for Myopathy Congenital

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Drugs & Therapeutics for Myopathy Congenital

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Myopathy Congenital

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Genetic Tests for Myopathy Congenital

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22GTR
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Genetic tests related to Myopathy Congenital:

id Genetic test Affiliating Genes
1 Congenital Myopathy22

Anatomical Context for Myopathy Congenital

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32MalaCards
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MalaCards organs/tissues related to Myopathy Congenital:

32
Brain, Skeletal muscle

Animal Models for Myopathy Congenital or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Myopathy Congenital:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.6DMD, RYR1, TTN, ACTA1
2MP:00053759.6INSR, RYR1, ACTA1, DMD
3MP:00053859.1DMD, DES, MYH6, INSR, RYR1, TTN
4MP:00053789.0DMD, CNTN1, INSR, RYR1, TTN, ACTA1
5MP:00053768.9DMD, DYSF, DES, MYH6, ACTA1, TTN
6MP:00053698.7ACTA1, DYSF, DMD, DES, MYH6, CNTN1
7MP:00053868.6DMD, DYSF, DES, MYH6, CNTN1, INSR
8MP:00107688.4DES, DMD, MYH6, CNTN1, INSR, RYR1

Publications for Myopathy Congenital

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Genetic Variations for Myopathy Congenital

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Expression for genes affiliated with Myopathy Congenital

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myopathy Congenital

Search GEO for disease gene expression data for Myopathy Congenital.

Pathways for genes affiliated with Myopathy Congenital

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Sources:
51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Myopathy Congenital

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Sources:
44Novoseek, 2BitterDB, 49PharmGKB, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB
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Compounds related to Myopathy Congenital according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1chloroquine44 2 49 28 1114.4RPS27A, INSR
2carnitine4410.3DNAH8, MYH6
3amp-pcp4410.3DNAH8, RYR1
4alpha-bungarotoxin44 5911.3DMD, DES
5p-mca4410.2RYR1, DNAH8
6cyclopiazonic acid44 5911.1DNAH8, RYR1
7gold4410.1DMD, TTN, DES
8hematoxylin4410.1DES, DMD, RPS27A
9bafilomycin a144 59 1112.1INSR, DES, DNAH8
10ryanodine44 28 5912.0TTN, RYR1, MYH6, DES
11adpribose4410.0DES, RPS27A, RYR1
12caffeine44 49 28 2 11 2415.0DMD, RYR1
13polysaccharide449.9RPS27A, DNAH8, INSR
14biotin44 11 2411.9DMD, RPS27A, INSR, DES
15n-ethylmaleimide44 1110.9DNAH8, INSR, RYR1
16isoproterenol44 1110.9DMD, MYH6, RYR1, INSR
17polyacrylamide449.9TTN, DES, MYH6, DMD
18bzatp44 2810.9DNAH8, RYR1
19rapamycin449.8RYR1, RPS27A, INSR
20glucose449.8INSR, DMD, RYR1, MYH6, DES
21lipid449.8INSR, DMD, MYH6, RYR1, ACTA1
22glycerol44 11 2411.8DMD, INSR, DNAH8, RPS27A
23adenylate449.7DNAH8, DES, DMD, RPS27A
24glycogen44 2410.7DMD, INSR, DES, RPS27A, TTN
25succinate449.7DNAH8, RYR1, DMD, MYH6, RPS27A
26norepinephrine44 11 2411.6DES, MYH6, DNAH8, RYR1
27testosterone44 59 11 2412.6INSR, DNAH8, DES, RPS27A
28hydrogen44 2410.6TTN, RYR1, DNAH8, DMD, RPS27A
29proline449.6TTN, DES, RPS27A, ACTA1, DMD, RYR1
30glutamine449.6RPS27A, DMD, DNAH8, RYR1, INSR
31atp44 2810.4RYR1, DNAH8, DMD, RPS27A, TTN, MYH6
32arginine449.3RPS27A, DMD, RYR1, INSR, MYH6, DES
33doxorubicin44 49 1111.2RYR1, RPS27A, DNAH8, DES
34acetylcholine44 49 28 11 2413.2RPS27A, TTN, RYR1, DMD, DES, INSR
35serine449.1RPS27A, DMD, ACTA1, TTN, MYH6, RYR1
36calcium44 49 11 2412.0ACTA1, DMD, DYSF, TTN, RYR1, DNAH8
37cysteine448.9INSR, TTN, RPS27A, DNAH8, DMD, DES
38creatinine448.8ACTA1, RPS27A, DYSF, RYR1, DMD, DES

GO Terms for genes affiliated with Myopathy Congenital

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16Gene Ontology
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Cellular components related to Myopathy Congenital according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1I bandGO:0316749.9RYR1, TTN
2striated muscle thin filamentGO:0058659.7ACTA1, TTN
3sarcolemmaGO:0423839.7MYOT, DES, DMD
4Z discGO:0300189.3DMD, TTN, MYH6, MYOT, DES

Biological processes related to Myopathy Congenital according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1glycogen catabolic processGO:00598010.5
2muscle cell cellular homeostasisGO:04671610.4DMD
3skeletal muscle fiber developmentGO:04874110.3RYR1, ACTA1
4muscle organ developmentGO:00751710.3DMD
5skeletal muscle thin filament assemblyGO:03024010.2ACTA1, TTN
6cardiac muscle fiber developmentGO:04873910.1MYH6, TTN
7cardiac muscle contractionGO:06004810.1TTN, DMD
8striated muscle contractionGO:00694110.0TTN, MYH6
9regulation of the force of heart contractionGO:00202610.0MYH6
10adult heart developmentGO:0075129.9TTN, MYH6
11muscle filament slidingGO:0300499.6MYH6, DES, DMD, ACTA1, TTN
12muscle contractionGO:0069369.4DES, ACTA1, TTN, RYR1, MYH6, MYOT

Molecular functions related to Myopathy Congenital according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:01702210.0ACTA1, DMD
2structural constituent of cytoskeletonGO:0052009.5ACTA1, DES, DMD
3structural constituent of muscleGO:0083079.4TTN, MYH6, MYOT, DMD

Products for genes affiliated with Myopathy Congenital

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myopathy Congenital

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet