MCID: MNC011
MIFTS: 20

Minicore Myopathy with External Ophthalmoplegia malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Minicore Myopathy with External Ophthalmoplegia

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Aliases & Descriptions for Minicore Myopathy with External Ophthalmoplegia:

Name: Minicore Myopathy with External Ophthalmoplegia 49 11 45 67 24
Multiminicore Disease with External Ophthalmoplegia 45 67
 
Multicore Myopathy with External Ophthalmoplegia 45 67
Mmdo 67

Characteristics:

HPO:

61
minicore myopathy with external ophthalmoplegia:
Onset and clinical course: neonatal onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 255320
MedGen34 C1850674

Summaries for Minicore Myopathy with External Ophthalmoplegia

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OMIM:49 Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple... (255320) more...

MalaCards based summary: Minicore Myopathy with External Ophthalmoplegia, also known as multiminicore disease with external ophthalmoplegia, is related to congenital multicore myopathy with external ophthalmoplegia and multiminicore disease, and has symptoms including nemaline bodies, facial palsy and difficulty running. An important gene associated with Minicore Myopathy with External Ophthalmoplegia is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skeletal muscle and lung.

UniProtKB/Swiss-Prot:67 Multiminicore disease with external ophthalmoplegia: Clinically heterogeneous neuromuscular disorder. General features include neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable. Muscle biopsy shows multiple, poorly circumscribed, short areas of sarcomere disorganization and mitochondria depletion (areas termed minicores) in most muscle fibers. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present in multiminicore disease.

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital multicore myopathy with external ophthalmoplegia12.4
2multiminicore disease11.4

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 facial palsy HP:0010628
3 difficulty running HP:0009046
4 increased connective tissue HP:0009025
5 feeding difficulties in infancy HP:0008872
6 type 1 and type 2 muscle fiber minicore regions HP:0003787
7 exercise-induced myalgia HP:0003738
8 proximal muscle weakness HP:0003701
9 muscular dystrophy HP:0003560
10 increased variability in muscle fiber diameter HP:0003557
11 axial muscle weakness HP:0003327
12 generalized muscle weakness HP:0003324
13 skeletal muscle atrophy HP:0003202
14 scoliosis HP:0002650
15 recurrent respiratory infections HP:0002205
16 respiratory insufficiency HP:0002093
17 pulmonary hypoplasia HP:0002089
18 myopathic facies HP:0002058
19 hydrops fetalis HP:0001789
20 polyhydramnios HP:0001561
21 decreased fetal movement HP:0001558
22 ligamentous laxity HP:0001380
23 neonatal hypotonia HP:0001319
24 areflexia HP:0001284
25 motor delay HP:0001270
26 external ophthalmoplegia HP:0000544
27 ptosis HP:0000508
28 high palate HP:0000218

UMLS symptoms related to Minicore Myopathy with External Ophthalmoplegia:


exercise-induced myalgia, generalized muscle weakness, facial paresis, myopathic facies, ophthalmoplegia

Drugs & Therapeutics for Minicore Myopathy with External Ophthalmoplegia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Minicore Myopathy with External Ophthalmoplegia

Genetic Tests for Minicore Myopathy with External Ophthalmoplegia

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Anatomical Context for Minicore Myopathy with External Ophthalmoplegia

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

33
Skeletal muscle, Lung

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:

67
id Symbol AA change Variation ID SNP ID
1RYR1p.Arg109TrpVAR_032910
2RYR1p.Met2423LysVAR_032915

Clinvar genetic disease variations for Minicore Myopathy with External Ophthalmoplegia:

5 (show all 14)
id Gene Variation 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 variantLikely pathogenic, Pathogenicrs118192173GRCh37Chr 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.14524G> A (p.Val4842Met)single nucleotide variantPathogenicrs193922879GRCh37Chr 19, 39071022: 39071022
9RYR1NM_000540.2(RYR1): c.7042_7044delGAG (p.Glu2348del)deletionPathogenic, risk factorrs121918596GRCh38Chr 19, 38499649: 38499651
10RYR1NM_000540.2(RYR1): c.6721C> T (p.Arg2241Ter)single nucleotide variantPathogenicrs200563280GRCh37Chr 19, 38987106: 38987106
11RYR1RYR1, 27-BP DEL, NT2097deletionPathogenic
12RYR1NM_000540.2(RYR1): c.5726_5727delAG (p.Glu1909Glyfs)deletionPathogenicrs387906681GRCh37Chr 19, 38979995: 38979996
13RYR1NM_000540.2(RYR1): c.9242T> C (p.Met3081Thr)single nucleotide variantPathogenicrs147012990GRCh37Chr 19, 39002893: 39002893
14RYR1NM_000540.2(RYR1): c.14126C> T (p.Thr4709Met)single nucleotide variantPathogenicrs118192140GRCh37Chr 19, 39063944: 39063944

Expression for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

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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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GO Terms for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

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Sources for Minicore Myopathy with External Ophthalmoplegia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet