MCID: MYP011
MIFTS: 25

Myopathy Congenital malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Myopathy Congenital

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Sources:
45NINDS, 66Wikipedia, 34MalaCards
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NINDS:45 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 congenital fiber-type disproportion. Affiliated tissues include brain and skeletal muscle.

Wikipedia:66 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:
44NIH Rare Diseases, 23GTR, 45NINDS, 50Orphanet, 46Novoseek, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Aliases & Descriptions:

myopathy congenital 44
congenital myopathy 44 23 45 50
batten turner congenital myopathy 44
myopathy - congenital 45
myopathy, congenital 46


External Ids:

ICD10 via Orphanet27 G71.2
UMLS via Orphanet64 C0270960

Related Diseases for Myopathy Congenital

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Myopathy Congenital family:

Myopathy Gne-Related Myopathy
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 90)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.5
2congenital fiber-type disproportion10.4
3centronuclear myopathy10.2
4central core myopathy10.2
5cap myopathy10.1
6rigid spine syndrome10.1
7centronuclear myopathy 410.1
8congenital myopathy, paradas type10.1
9benign samaritan congenital myopathy10.1
10becker muscular dystrophy10.1
11nemaline myopathy10.1
12bethlem myopathy10.1
13congenital structural myopathy10.1
14muscular dystrophy10.1
15congenital myotonic dystrophy10.1
16congenital nonprogressive myopathy with moebius and robin sequences10.1
17minicore myopathy with external ophthalmoplegia10.1
18myopathy congenital multicore with external ophthalmoplegia10.1
19native american myopathy10.1
20congenital myopathy, undefined/nonspecific10.1
21compton-north congenital myopathy10.1
22myosin storage myopathy10.1
23myopathy, congenital, with fiber-type disproportion 110.1
24muscular dystrophy-dystroglycanopathy , type b, 1410.1
25congenital myopathy with excess of muscle spindles10.1
26myopathy, congenital, with fiber-type disproportion, x-linked10.1
27zebra body myopathy10.1
28microcephaly9.9
29facioscapulohumeral muscular dystrophy9.9
30limb-girdle muscular dystrophy9.9
31cleft palate9.9
32muscular atrophy9.9
33malignant hyperthermia9.9
34secretory diarrhea9.9
35cutis laxa9.9
36inclusion body myositis9.9
37ullrich congenital muscular dystrophy9.9
38communicating hydrocephalus9.9
39congenital disorder of glycosylation9.9
40congenital muscular dystrophy9.9
41diarrhea9.9
42hydrocephalus9.9
43myopia9.9
44myositis9.9
45myotonic dystrophy9.9
46ophthalmoplegia9.9
47spinal muscular atrophy9.9
48malignant hyperthermia susceptibility9.9
49multiminicore disease9.9
50x-linked centronuclear myopathy9.9

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



Diseases related to myopathy congenital

Symptoms for Myopathy Congenital

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Drugs & Therapeutics for Myopathy Congenital

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

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Sources:
23GTR
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Genetic tests related to Myopathy Congenital:

id Genetic test Affiliating Genes
1 Congenital Myopathy23

Anatomical Context for Myopathy Congenital

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Sources:
34MalaCards
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MalaCards organs/tissues related to Myopathy Congenital:

34
Brain, Skeletal muscle

Animal Models for Myopathy Congenital or affiliated genes

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Publications for Myopathy Congenital

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53PubMed
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Articles related to Myopathy Congenital:

idTitleAuthorsYear
1
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. (18553514)
2008
2
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. (14659414)
2004

Variations for Myopathy Congenital

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Expression for genes affiliated with Myopathy Congenital

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Sources:
16Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Myopathy Congenital.

Pathways for genes affiliated with Myopathy Congenital

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Compounds for genes affiliated with Myopathy Congenital

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GO Terms for genes affiliated with Myopathy Congenital

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Products for genes affiliated with Myopathy Congenital

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myopathy Congenital

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet