MCID: MYP011
MIFTS: 48

Myopathy Congenital malady

Neuronal category

Summaries for Myopathy Congenital

Sources:
44NINDS, 64Wikipedia, 33MalaCards
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NINDS:44 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 centronuclear 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, heart and skeletal muscle, and related mouse phenotypes are skeleton and adipose tissue.

Wikipedia:64 Congenital myopathy is a term for any muscle disorder present at birth. This defect of either the brain,... more...

Aliases & Classifications for Myopathy Congenital

Sources:
43NIH Rare Diseases, 22GTR, 44NINDS, 49Orphanet, 45Novoseek, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Aliases & Descriptions:

myopathy congenital 43
congenital myopathy 43 22 44 49
batten turner congenital myopathy 43
myopathy - congenital 44
myopathy, congenital 45


External Ids:

ICD10 via Orphanet26 G71.2
UMLS via Orphanet62 C0270960

Related Diseases for Myopathy Congenital

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the myopathy with postural muscle atrophy, x-linked family:

myopathy myopathy congenital
familial visceral myopathy with external ophthalmoplegia myopathy with lysis of myofibrils
myopathy, congenital, with fiber-type disproportion 1 congenital myopathy with excess of muscle spindles
myopathy, congenital, with fiber-type disproportion, x-linked myopathy with hexagonally cross-linked tubular arrays
inflammatory myopathy with abundant macrophages 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 109)
idRelated DiseaseScoreTop Affiliating Genes
1centronuclear myopathy35.2DMD, RYR1, MTM1, DES, TTN
2central core myopathy35.1MYOT, GAA, DES, RYR1
3facioscapulohumeral muscular dystrophy34.8GAA, DMD
4rigid spine syndrome34.8GAA, DMD, LOC619409
5congenital fiber-type disproportion30.6RYR1, ACTA1
6becker muscular dystrophy30.1DYSF, DMD
7nemaline myopathy30.1RYR1, DES, MYOT, ACTA1
8myofibrillar myopathy29.8RPS27A, DES
9malignant hyperthermia29.8RYR1, DNAH8
10limb-girdle muscular dystrophy29.8DMD, DYSF
11glycogen storage disease ii13.3GAA, DMD, PYGM
12noonan syndrome13.3TTN, RYR1, DNAH8, MYH6, MYOT, DES
13danon disease13.3GAA
14alveolar rhabdomyosarcoma13.3MYOG, DES
15carotid artery dissection13.3GAA
16protein s deficiency13.3DYSF, GAA, DMD
17duchenne muscular dystrophy13.3DMD, GAA, TTN, ITGA7, DES
18oculopharyngeal muscular dystrophy13.3RPS27A, GAA
19alveolar soft part sarcoma13.3MYOG, DES
20hypertrophic cardiomyopathy13.3TTN, MYH6, GAA
21metabolic syndrome x13.3INSR, GAA, PYGM, DNAH8
22cataract13.3RPS27A, DNAH8, LOC619409
23congenital heart defect13.3DMD, GAA, MYH6, INSR, RYR1, TTN
24embryonal rhabdomyosarcoma13.3MYOG, DES
25glycogen storage disease13.3PYGM, GAA, DMD
26hypertrophy of breast13.3ACTA1, DMD, TTN, MYOG, GAA, DNAH8
27leiomyoma13.3INSR, MYOG, DES
28leiomyosarcoma13.3DES, MYOG
29malignant mesenchymoma13.3MYOG
30motor neuron disease13.3RYR1, GAA, RPS27A
31muscular dystrophy13.3DES, LOC619409, DYSF, ITGA7, DMD, TTN
32myopathy13.3RPS27A, DMD, PYGM, DYSF, GAA, ITGA7
33myotonic dystrophy13.3GAA, RYR1, DMD, MTM1, INSR, MYOG
34neuromuscular disease13.3DYSF, TTN, ACTA1, RYR1, DNAH8, MYOT
35neuropathy13.3DNAH8, MYOG, MTM1, RYR1, TTN, MYOT
36pseudosarcomatous fibromatosis13.3MYOG, DES
37respiratory failure13.3GAA, LOC619409, DNAH8, RYR1, TTN, ACTA1
38retinoblastoma13.3TTN, INSR, MYOG, RPS27A
39rhabdomyosarcoma13.3DMD, DNAH8, DES, MYOG, TTN
40mitochondrial disorders13.3PYGM, GAA
41fukuyama type muscular dystrophy13.3ITGA7, DMD
42myoglobinuria recurrent13.3PYGM, DMD
43polymyositis13.3TTN, DMD, DYSF, RPS27A, GAA
44insulin resistance13.3PYGM, DNAH8, RPS27A, INSR
45benign samaritan congenital myopathy10.2
46cap myopathy10.2
47nemaline myopathy 3, autosomal dominant or recessive10.2
48bethlem myopathy10.1
49congenital nonprogressive myopathy with moebius and robin sequences10.1
50native american myopathy10.1

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



Diseases related to myopathy congenital

Clinical Features for Myopathy Congenital

Drugs & Therapeutics for Myopathy Congenital

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Myopathy Congenital

Drug clinical trials:

Search ClinicalTrials for Myopathy Congenital

Search NIH Clinical Center for Myopathy Congenital

Search CenterWatch for Myopathy Congenital

Genetic Tests for Myopathy Congenital

Sources:
22GTR
See all sources

Genetic tests related to Myopathy Congenital:

id Genetic test Affiliating Genes
1 Congenital Myopathy22

Anatomical Context for Myopathy Congenital

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Myopathy Congenital:

33
Brain, Heart, Skeletal muscle, Skin, T cells, B cells

Animal Models for Myopathy Congenital or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Myopathy Congenital

Sources:
51PubMed
See all sources

Articles related to Myopathy Congenital:

(show top 50)    (show all 137)
idTitleAuthorsYear
1
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. (23804214)
2013
2
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. (22980765)
2012
3
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. (22749829)
2012
4
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. (22798622)
2012
5
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. (22752422)
2012
6
Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy. (23005904)
2012
7
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. (22407809)
2012
8
A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy. (22113158)
2012
9
Myopathy associated with congenital fibre type disproportion in a young dog. (22789857)
2012
10
Congenital myopathy caused by a novel missense mutation in the CFL2 gene. (22560515)
2012
11
Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis. (21881007)
2012
12
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. (20684003)
2010
13
Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. (19307547)
2009
14
Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). (19483656)
2009
15
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. (19026398)
2008
16
An infant with congenital nemaline myopathy and hypertrophic cardiomyopathy. (19155574)
2008
17
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus. (17236770)
2007
18
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. (16496270)
2006
19
Myogenin (Myf4) upregulation in trans-differentiating fibroblasts from a congenital myopathy with arrest of myogenesis and defects of myotube formation. (16977479)
2006
20
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. (15689448)
2005
21
A new congenital form of X-linked autophagic vacuolar myopathy. (16217076)
2005
22
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. (12719381)
2003
23
Congenital myopathy with abundant ring fibres, rimmed vacuoles and inclusion body myositis-type inclusions. (12690567)
2003
24
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. (12136074)
2002
25
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. (12207937)
2002
26
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. (11063719)
2000
27
Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy). (10844410)
1999
28
Cardiac manifestations of congenital fiber-type disproportion myopathy. (10073429)
1999
29
Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles. (9708547)
1998
30
Congenital rapidly fatal form of nemaline myopathy with fetal hydrops and arthrogryposis. A case report and review. (9784647)
1998
31
Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease. (9748045)
1998
32
Giardiasis as a cause of hypokalemic myopathy in congenital immunodeficiency. (8856367)
1996
33
Severe insulin-resistant diabetes mellitus in patients with congenital muscle fiber type disproportion myopathy. (7706500)
1995
34
Congenital myopathy with ringlike distribution of myonuclei and mitochondria and accumulation of nemaline rods. A variant of centronuclear myopathy? (7546014)
1995
35
A new familial congenital myopathy in children with desmin and dystrophin reacting plaques. (7561954)
1995
36
A new case of severe congenital nemaline myopathy. (8155933)
1993
37
Distinct contractile protein profile in congenital myotonic dystrophy and X-linked myotubular myopathy. (1822780)
1991
38
Congenital nemaline myopathy with dilated cardiomyopathy: an autopsy study. (2295510)
1990
39
Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy. (2178616)
1990
40
The spectrum of cytoplasmic body myopathy: report of a congenital severe case. (2538089)
1989
41
Congenital fiber type disproportion myopathy in Lowe syndrome. (2604802)
1989
42
Normal cardiac contractility in patients with congenital nemaline myopathy. (3221984)
1988
43
A new autosomal recessive syndrome with Noonan-like phenotype, myopathy with congenital contractures and malignant hyperthermia. (4041573)
1985
44
Congenital nemaline myopathy. II. Quantitative changes in alpha-actinin and myosin in skeletal muscle. (6302503)
1983
45
Phosphofructokinase deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy: biochemical and morphological studies on the muscle. (6228037)
1983
46
Congenital nemaline myopathy: two patients with consanguineous parents, one with a progressive course. (6196458)
1983
47
Genetics of congenital nemaline myopathy. (6997732)
1980
48
Fingerprint body myopathy, a newly recognized congenital muscle disease. (4339422)
1972
49
Nemaline (neuro) myopathy. Rod-like bodies and type I fibre atrophy in a case of congenital hypotonia with denervation. (4341505)
1972
50
Congenital blepharophimosis associated with a unique generalized myopathy. (13909723)
1962

Genetic Variations for Myopathy Congenital

Expression for genes affiliated with Myopathy Congenital

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 54Reactome
See all sources

Compounds for genes affiliated with Myopathy Congenital

Sources:
45Novoseek, 2BitterDB, 50PharmGKB, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 24HMDB
See all sources

Compounds related to Myopathy Congenital according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1chloroquine45 2 50 29 1114.4RPS27A, INSR
2carnitine4510.3DNAH8, MYH6
3amp-pcp4510.3DNAH8, RYR1
4alpha-bungarotoxin45 6011.3DMD, DES
5p-mca4510.2RYR1, DNAH8
6cyclopiazonic acid45 6011.1DNAH8, RYR1
7gold4510.1DMD, TTN, DES
8hematoxylin4510.1DES, DMD, RPS27A
9bafilomycin a145 60 1112.1INSR, DES, DNAH8
10ryanodine45 29 6012.0TTN, RYR1, MYH6, DES
11adpribose4510.0DES, RPS27A, RYR1
12caffeine45 50 29 2 11 2415.0DMD, RYR1
13polysaccharide459.9RPS27A, DNAH8, INSR
14biotin45 11 2411.9DMD, RPS27A, INSR, DES
15n-ethylmaleimide45 1110.9DNAH8, INSR, RYR1
16isoproterenol45 1110.9DMD, MYH6, RYR1, INSR
17polyacrylamide459.9TTN, DES, MYH6, DMD
18bzatp45 2910.9DNAH8, RYR1
19rapamycin459.8RYR1, RPS27A, INSR
20glucose459.8INSR, DMD, RYR1, MYH6, DES
21lipid459.8INSR, DMD, MYH6, RYR1, ACTA1
22glycerol45 11 2411.8DMD, INSR, DNAH8, RPS27A
23adenylate459.7DNAH8, DES, DMD, RPS27A
24glycogen45 2410.7DMD, INSR, DES, RPS27A, TTN
25succinate459.7DNAH8, RYR1, DMD, MYH6, RPS27A
26norepinephrine45 11 2411.6DES, MYH6, DNAH8, RYR1
27testosterone45 60 11 2412.6INSR, DNAH8, DES, RPS27A
28hydrogen45 2410.6TTN, RYR1, DNAH8, DMD, RPS27A
29proline459.6TTN, DES, RPS27A, ACTA1, DMD, RYR1
30glutamine459.6RPS27A, DMD, DNAH8, RYR1, INSR
31atp45 2910.4RYR1, DNAH8, DMD, RPS27A, TTN, MYH6
32arginine459.3RPS27A, DMD, RYR1, INSR, MYH6, DES
33doxorubicin45 50 1111.2RYR1, RPS27A, DNAH8, DES
34acetylcholine45 50 29 11 2413.2RPS27A, TTN, RYR1, DMD, DES, INSR
35serine459.1RPS27A, DMD, ACTA1, TTN, MYH6, RYR1
36calcium45 50 11 2412.0ACTA1, DMD, DYSF, TTN, RYR1, DNAH8
37cysteine458.9INSR, TTN, RPS27A, DNAH8, DMD, DES
38creatinine458.8ACTA1, RPS27A, DYSF, RYR1, DMD, DES

GO Terms for genes affiliated with Myopathy Congenital

Sources:
16Gene Ontology
See all sources

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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Sources for Myopathy Congenital

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet