MCID: MNC011
MIFTS: 23

Minicore Myopathy with External Ophthalmoplegia malady

Neuronal diseases category

Summaries for Minicore Myopathy with External Ophthalmoplegia

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Sources:
46OMIM, 32MalaCards
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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:46 255320

Aliases & Classifications for Minicore Myopathy with External Ophthalmoplegia

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 60UMLS, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

minicore myopathy with external ophthalmoplegia 42 22 46 60
congenital multicore myopathy with external ophthalmoplegia 48
multiminicore disease with external ophthalmoplegia 42
multicore myopathy with external ophthalmoplegia 42


External Ids:

OMIM46 255320
ICD10 via Orphanet26 G71.2

Related Diseases for Minicore Myopathy with External Ophthalmoplegia

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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

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Sources:
46OMIM
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Clinical features from OMIM:

255320

Clinical synopsis from OMIM:

255320

Drugs & Therapeutics for Minicore Myopathy with External Ophthalmoplegia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Minicore Myopathy with External Ophthalmoplegia:

32
Skeletal muscle

Animal Models for Minicore Myopathy with External Ophthalmoplegia or affiliated genes

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Publications for Minicore Myopathy with External Ophthalmoplegia

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Genetic Variations for Minicore Myopathy with External Ophthalmoplegia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Minicore Myopathy with External Ophthalmoplegia:

62
id Symbol AA change Variation ID SNP ID
1RYR1p.Arg109TrpVAR_032910
2RYR1p.Met2423LysVAR_032915

Expression for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

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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

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Compounds for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

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GO Terms for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

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Products for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Minicore Myopathy with External Ophthalmoplegia

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet