MCID: MNC011
MIFTS: 23

Minicore Myopathy with External Ophthalmoplegia malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Minicore Myopathy with External Ophthalmoplegia

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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 minicore myopathy, antenatal onset, with arthrogryposis. 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

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Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 62UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

minicore myopathy with external ophthalmoplegia 43 22 47 62
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

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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 disease10.5
2minicore myopathy, antenatal onset, with arthrogryposis10.5
3rigid spine syndrome10.5

Symptoms for Minicore Myopathy with External Ophthalmoplegia

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47OMIM
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Symptoms by clinical synopsis from OMIM:

255320

Clinical features from OMIM:

255320

Drugs & Therapeutics for Minicore Myopathy with External Ophthalmoplegia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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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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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

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Publications for Minicore Myopathy with External Ophthalmoplegia

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Variations for Minicore Myopathy with External Ophthalmoplegia

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Minicore Myopathy with External Ophthalmoplegia:

64
id Symbol AA change Variation ID SNP ID
1RYR1p.Arg109TrpVAR_032910
2RYR1p.Met2423LysVAR_032915

Clinvar genetic disease variations for Minicore Myopathy with External Ophthalmoplegia:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.14545G> A (p.Val4849Ile)single nucleotide variantPathogenicrs118192168GRCh37Chr 19, 39071043: 39071043
2RYR1NM_000540.2(RYR1): c.14647-1449A> Gsingle nucleotide variantPathogenicrs193922886GRCh37Chr 19, 39074134: 39074134
3RYR1NM_000540.2(RYR1): c.325C> T (p.Arg109Trp)single nucleotide variantPathogenicrs118192173GRCh37Chr 19, 38934252: 38934252
4RYR1NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys)single nucleotide variantPathogenicrs118192174GRCh37Chr 19, 38990601: 38990601
5RYR1NM_000540.2(RYR1): c.14365-2A> Tsingle nucleotide variantPathogenicrs193922870GRCh37Chr 19, 39070620: 39070620
6RYR1NM_000540.2(RYR1): c.10343C> T (p.Ser3448Phe)single nucleotide variantPathogenicrs193922836GRCh37Chr 19, 39013751: 39013751
7RYR1NM_000540.2(RYR1): c.1739_1742dupATCA (p.His581Glnfs)duplicationPathogenicrs193922771GRCh37Chr 19, 38946339: 38946342
8RYR1NM_000540.2(RYR1): c.10348-6C> Gsingle nucleotide variantPathogenicrs193922837GRCh37Chr 19, 39013851: 39013851
9RYR1NM_000540.2(RYR1): c.14524G> A (p.Val4842Met)single nucleotide variantPathogenicrs193922879GRCh37Chr 19, 39071022: 39071022
10RYR1NM_000540.2(RYR1): c.5726_5727delAG (p.Glu1909Glyfs)deletionPathogenicrs387906681GRCh37Chr 19, 38979995: 38979996
11RYR1NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr)single nucleotide variantBenign, Pathogenicrs148772854GRCh37Chr 19, 39034444: 39034444
12RYR1NM_000540.2(RYR1): c.14524G> A (p.Val4842Met)single nucleotide variantPathogenicrs193922879GRCh37Chr 19, 39071022: 39071022

Expression for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

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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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet