MCID: MYP011
MIFTS: 21

Myopathy Congenital malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases categories
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Summaries for Myopathy Congenital

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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 based summary: Myopathy Congenital, also known as congenital myopathy, is related to myopathy and congenital fiber-type disproportion, and has symptoms including Affiliated tissues include skeletal muscle.

Wikipedia:65 Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily... more...

Aliases & Classifications for Myopathy Congenital

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Sources:
42NIH Rare Diseases, 22GTR, 43NINDS, 44Novoseek, 62UMLS
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Myopathy Congenital, Aliases & Descriptions:

Name: Myopathy Congenital 42
Congenital Myopathy 42 22 43
Myopathy, Congenital 44 62
 
Batten-Turner Congenital Myopathy 62
Batten Turner Congenital Myopathy 42
Myopathy - Congenital 43


Classifications:

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


Related Diseases for Myopathy Congenital

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Diseases in the Myopathy family:

Gne-Related Myopathy myopathy congenital
Sepn1-Related Myopathy Susceptibility to Myopathies Due to Statin Treatment
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 91)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.5
2congenital fiber-type disproportion10.4
3centronuclear myopathy10.2
4central core myopathy10.2
5cap myopathy10.2
6bethlem myopathy10.2
7nemaline myopathy10.2
8native american myopathy10.2
9rigid spine syndrome10.2
10muscular dystrophy-dystroglycanopathy , type b, 510.2
11congenital myopathy, paradas type10.2
12benign samaritan congenital myopathy10.2
13becker muscular dystrophy10.1
14congenital structural myopathy10.1
15muscular dystrophy10.1
16congenital nonprogressive myopathy with moebius and robin sequences10.1
17minicore myopathy with external ophthalmoplegia10.1
18myopathy congenital multicore with external ophthalmoplegia10.1
19congenital myopathy, undefined/nonspecific10.1
20compton-north congenital myopathy10.1
21centronuclear myopathy 410.1
22myosin storage myopathy10.1
23myopathy, congenital, with fiber-type disproportion 110.1
24myopathy, congenital, with fiber-type disproportion, x-linked10.1
25zebra body myopathy10.1
26facioscapulohumeral muscular dystrophy9.9
27hydrocephalus9.9
28spinal muscular atrophy9.9
29cleft palate9.9
30muscular atrophy9.9
31limb-girdle muscular dystrophy9.9
32secretory diarrhea9.9
33ullrich congenital muscular dystrophy9.9
34microcephaly9.9
35malignant hyperthermia9.9
36cutis laxa9.9
37inclusion body myositis9.9
38communicating hydrocephalus9.9
39congenital disorder of glycosylation9.9
40congenital muscular dystrophy9.9
41diarrhea9.9
42myopia9.9
43myositis9.9
44ophthalmoplegia9.9
45myotonic dystrophy9.9
46malignant hyperthermia susceptibility9.9
47multiminicore disease9.9
48salih myopathy9.9
49x-linked centronuclear myopathy9.9
50congenital muscular dystrophy type 1a9.9

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



Diseases related to myopathy congenital

Symptoms for Myopathy Congenital

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HPO human phenotypes related to Myopathy Congenital:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 abnormality of the nervous system HP:0000707
3 myopathy HP:0003198

Drugs & Therapeutics for Myopathy Congenital

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Drug clinical trials:

Search ClinicalTrials for Myopathy Congenital

Search NIH Clinical Center for Myopathy Congenital

Genetic Tests for Myopathy Congenital

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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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MalaCards organs/tissues related to Myopathy Congenital:

32
Skeletal muscle

Animal Models for Myopathy Congenital or affiliated genes

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Publications for Myopathy Congenital

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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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet