MCID: MNC011
MIFTS: 25

Minicore Myopathy with External Ophthalmoplegia malady

Categories: Genetic diseases, Rare diseases, Neuronal 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 50 46 68 25 12
Multiminicore Disease with External Ophthalmoplegia 46 68
Multicore Myopathy with External Ophthalmoplegia 46 68
 
Congenital Multicore Myopathy with External Ophthalmoplegia 52
Mmdo 68

Characteristics:

HPO:

62
minicore myopathy with external ophthalmoplegia:
Inheritance: autosomal recessive inheritance
Onset and clinical course: neonatal onset


Classifications:



External Ids:

OMIM50 255320
Orphanet52 ORPHA98905
ICD10 via Orphanet29 G71.2
MedGen35 C1850674

Summaries for Minicore Myopathy with External Ophthalmoplegia

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OMIM:50 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 multiminicore disease, and has symptoms including nemaline bodies, high palate and ptosis. 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:68 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
1multiminicore 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 high palate HP:0000218
3 ptosis HP:0000508
4 external ophthalmoplegia HP:0000544
5 motor delay HP:0001270
6 areflexia HP:0001284
7 neonatal hypotonia HP:0001319
8 ligamentous laxity HP:0001380
9 decreased fetal movement HP:0001558
10 polyhydramnios HP:0001561
11 hydrops fetalis HP:0001789
12 myopathic facies HP:0002058
13 pulmonary hypoplasia HP:0002089
14 respiratory insufficiency HP:0002093
15 recurrent respiratory infections HP:0002205
16 scoliosis HP:0002650
17 skeletal muscle atrophy 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 proximal muscle weakness HP:0003701
23 exercise-induced myalgia HP:0003738
24 type 1 and type 2 muscle fiber minicore regions HP:0003787
25 feeding difficulties in infancy HP:0008872
26 increased connective tissue HP:0009025
27 difficulty running HP:0009046
28 facial palsy HP:0010628

UMLS symptoms related to Minicore Myopathy with External Ophthalmoplegia:


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

Drugs & Therapeutics for Minicore Myopathy with External Ophthalmoplegia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
2Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

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 Ophthalmoplegia25

Anatomical Context for Minicore Myopathy with External Ophthalmoplegia

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1RYR1p.Arg109TrpVAR_032910
2RYR1p.Met2423LysVAR_032915
3RYR1p.Met402ThrVAR_063846
4RYR1p.His2035LeuVAR_063847
5RYR1p.Asn3326LysVAR_063848
6RYR1p.Cys3402GlyVAR_063849

Clinvar genetic disease variations for Minicore Myopathy with External Ophthalmoplegia:

5 (show all 12)
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.7042_7044delGAG (p.Glu2348del)deletionPathogenic, risk factorrs121918596GRCh38Chr 19, 38499649: 38499651
9RYR1NM_000540.2(RYR1): c.6721C> T (p.Arg2241Ter)single nucleotide variantPathogenicrs200563280GRCh37Chr 19, 38987106: 38987106
10RYR1NM_000540.2(RYR1): c.2097_2123del27 (p.Glu699_Gly707del)deletionPathogenicrs876661306GRCh38Chr 19, 38458222: 38458248
11RYR1NM_000540.2(RYR1): c.6721C> T (p.Arg2241Ter)single nucleotide variantPathogenicrs200563280GRCh37Chr 19, 38987106: 38987106
12RYR1NM_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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet