MCID: CNG234

Congenital Myopathy, Paradas Type malady

Neuronal diseases, Rare diseases categories
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Summaries for Congenital Myopathy, Paradas Type

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MalaCards based summary: Congenital Myopathy, Paradas Type An important gene associated with Congenital Myopathy, Paradas Type is DYSF (dysferlin).

Aliases & Classifications for Congenital Myopathy, Paradas Type

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Sources:
48Orphanet, 26ICD10 via Orphanet
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Congenital Myopathy, Paradas Type, Aliases & Descriptions:

Name: Congenital Myopathy, Paradas Type 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
congenital myopathy, paradas type:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


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ICD10 via Orphanet26 G71.2

Related Diseases for Congenital Myopathy, Paradas Type

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Symptoms for Congenital Myopathy, Paradas Type

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Drugs & Therapeutics for Congenital Myopathy, Paradas Type

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Drug clinical trials:

Search ClinicalTrials for Congenital Myopathy, Paradas Type

Search NIH Clinical Center for Congenital Myopathy, Paradas Type

Genetic Tests for Congenital Myopathy, Paradas Type

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Anatomical Context for Congenital Myopathy, Paradas Type

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Animal Models for Congenital Myopathy, Paradas Type or affiliated genes

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Publications for Congenital Myopathy, Paradas Type

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Variations for Congenital Myopathy, Paradas Type

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Expression for genes affiliated with Congenital Myopathy, Paradas Type

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Expression patterns in normal tissues for genes affiliated with Congenital Myopathy, Paradas Type

Search GEO for disease gene expression data for Congenital Myopathy, Paradas Type.

Pathways for genes affiliated with Congenital Myopathy, Paradas Type

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Compounds for genes affiliated with Congenital Myopathy, Paradas Type

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GO Terms for genes affiliated with Congenital Myopathy, Paradas Type

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Products for genes affiliated with Congenital Myopathy, Paradas Type

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  • Antibodies
  • Proteins
  • Lysates

Sources for Congenital Myopathy, Paradas Type

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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