MCID: MNC011
MIFTS: 18

Minicore Myopathy with External Ophthalmoplegia malady

Neuronal category

Summaries for Minicore Myopathy with External Ophthalmoplegia

Sources:
47OMIM, 33MalaCards
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MalaCards: Minicore Myopathy with External Ophthalmoplegia, also known as congenital multicore myopathy with external ophthalmoplegia, is related to multiminicore disease and rigid spine syndrome. An important gene associated with Minicore Myopathy with External Ophthalmoplegia is RYR1 (ryanodine receptor 1 (skeletal)). Affiliated tissues include skeletal muscle.

Description from OMIM:47 255320

Aliases & Classifications for Minicore Myopathy with External Ophthalmoplegia

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

minicore myopathy with external ophthalmoplegia 43 22 47 61
congenital multicore myopathy with external ophthalmoplegia 49
multiminicore disease with external ophthalmoplegia 43
multicore myopathy with external ophthalmoplegia 43


External Ids:

OMIM47 255320
ICD10 via Orphanet26 G71.2

Related Diseases for Minicore Myopathy with External Ophthalmoplegia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Minicore Myopathy with External Ophthalmoplegia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1multiminicore disease10.4
2rigid spine syndrome10.4
3minicore myopathy, antenatal onset, with arthrogryposis10.4

Clinical Features for Minicore Myopathy with External Ophthalmoplegia

Sources:
47OMIM
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Clinical features from OMIM:

255320

Clinical synopsis from OMIM:

255320

Drugs & Therapeutics for Minicore Myopathy with External Ophthalmoplegia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Minicore Myopathy with External Ophthalmoplegia

Drug clinical trials:

Search ClinicalTrials for Minicore Myopathy with External Ophthalmoplegia

Search NIH Clinical Center for Minicore Myopathy with External Ophthalmoplegia

Search CenterWatch for Minicore Myopathy with External Ophthalmoplegia

Genetic Tests for Minicore Myopathy with External Ophthalmoplegia

Sources:
22GTR
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Genetic tests related to Minicore Myopathy with External Ophthalmoplegia:

id Genetic test Affiliating Genes
1 Minicore Myopathy With External Ophthalmoplegia22

Anatomical Context for Minicore Myopathy with External Ophthalmoplegia

Sources:
33MalaCards
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MalaCards organs/tissues related to Minicore Myopathy with External Ophthalmoplegia:

33
Skeletal muscle

Animal Models for Minicore Myopathy with External Ophthalmoplegia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Minicore Myopathy with External Ophthalmoplegia

Genetic Variations for Minicore Myopathy with External Ophthalmoplegia

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Minicore Myopathy with External Ophthalmoplegia:

63
id Symbol AA change Variation SNP ID
1RYR1p.Arg109TrpVAR_032910
2RYR1p.Met2423LysVAR_032915

Expression for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

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

Search GEO for disease gene expression data for Minicore Myopathy with External Ophthalmoplegia.

Pathways for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

Compounds for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

GO Terms for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

Products for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Minicore Myopathy with External Ophthalmoplegia

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