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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MalaCards based summary: Minicore Myopathy with External Ophthalmoplegia, also known as multiminicore disease with external ophthalmoplegia, is related to multiminicore disease and minicore myopathy, antenatal onset, with arthrogryposis, and has symptoms including 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, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Minicore Myopathy with External Ophthalmoplegia, Aliases & Descriptions:

Name: Minicore Myopathy with External Ophthalmoplegia 42 22 46 62
Multiminicore Disease with External Ophthalmoplegia 42 62
 
Congenital Multicore Myopathy with External Ophthalmoplegia 48
Multicore Myopathy with External Ophthalmoplegia 42


Classifications:

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


External Ids:

OMIM46 255320
ICD10 via Orphanet26 G71.2

Related Diseases for Minicore Myopathy with External Ophthalmoplegia

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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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Symptoms by clinical synopsis from OMIM:

255320

Clinical features from OMIM:

255320

HPO human phenotypes related to Minicore Myopathy with External Ophthalmoplegia:

(show all 28)
id Description Frequency HPO Source Accession
1 nemaline bodies rare (5%) HP:0003798
2 autosomal recessive inheritance HP:0000007
3 high palate HP:0000218
4 ptosis HP:0000508
5 external ophthalmoplegia HP:0000544
6 motor delay HP:0001270
7 areflexia HP:0001284
8 neonatal hypotonia HP:0001319
9 ligamentous laxity HP:0001380
10 decreased fetal movement HP:0001558
11 polyhydramnios HP:0001561
12 hydrops fetalis HP:0001789
13 myopathic facies HP:0002058
14 respiratory insufficiency HP:0002093
15 recurrent respiratory infections HP:0002205
16 scoliosis HP:0002650
17 amyotrophy HP:0003202
18 generalized muscle weakness HP:0003324
19 axial muscle weakness HP:0003327
20 increased variability in muscle fiber diameter HP:0003557
21 muscular dystrophy HP:0003560
22 neonatal onset HP:0003623
23 proximal muscle weakness HP:0003701
24 exercise-induced myalgia HP:0003738
25 type 1 and type 2 muscle fiber minicore regions HP:0003787
26 feeding difficulties in infancy HP:0008872
27 increased connective tissue HP:0009025
28 difficulty running HP:0009046

Drugs & Therapeutics for Minicore Myopathy with External Ophthalmoplegia

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Drug clinical trials:

Search ClinicalTrials for Minicore Myopathy with External Ophthalmoplegia

Search NIH Clinical Center for Minicore Myopathy with External Ophthalmoplegia

Genetic Tests for Minicore Myopathy with External Ophthalmoplegia

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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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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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Variations for Minicore Myopathy with External Ophthalmoplegia

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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:

6 (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 variantPathogenicrs148772854GRCh37Chr 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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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

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