MCID: MNC011
MIFTS: 26

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 51 47 69 26 12
Multiminicore Disease with External Ophthalmoplegia 47 69
Multicore Myopathy with External Ophthalmoplegia 47 69
 
Congenital Multicore Myopathy with External Ophthalmoplegia 53
Mmdo 69

Characteristics:

HPO:

63
minicore myopathy with external ophthalmoplegia:
Inheritance: autosomal recessive inheritance
Onset and clinical course: neonatal onset

Classifications:



External Ids:

OMIM51 255320
Orphanet53 ORPHA98905
ICD10 via Orphanet30 G71.2
MedGen36 C1850674

Summaries for Minicore Myopathy with External Ophthalmoplegia

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OMIM:51 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:69 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 disease11.2

Symptoms for Minicore Myopathy with External Ophthalmoplegia

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Symptoms by clinical synopsis from OMIM:

255320

Clinical features from OMIM:

255320

Human phenotypes related to Minicore Myopathy with External Ophthalmoplegia:

 63 (show all 28)
id Description HPO Frequency HPO Source Accession
1 nemaline bodies63 rare (5%) HP:0003798
2 high palate63 HP:0000218
3 ptosis63 HP:0000508
4 external ophthalmoplegia63 HP:0000544
5 motor delay63 HP:0001270
6 areflexia63 HP:0001284
7 neonatal hypotonia63 HP:0001319
8 ligamentous laxity63 HP:0001380
9 decreased fetal movement63 HP:0001558
10 polyhydramnios63 HP:0001561
11 hydrops fetalis63 HP:0001789
12 myopathic facies63 HP:0002058
13 pulmonary hypoplasia63 HP:0002089
14 respiratory insufficiency63 HP:0002093
15 recurrent respiratory infections63 HP:0002205
16 scoliosis63 HP:0002650
17 skeletal muscle atrophy63 HP:0003202
18 generalized muscle weakness63 HP:0003324
19 axial muscle weakness63 HP:0003327
20 increased variability in muscle fiber diameter63 HP:0003557
21 muscular dystrophy63 HP:0003560
22 proximal muscle weakness63 HP:0003701
23 exercise-induced myalgia63 HP:0003738
24 type 1 and type 2 muscle fiber minicore regions63 HP:0003787
25 feeding difficulties in infancy63 HP:0008872
26 increased connective tissue63 HP:0009025
27 difficulty running63 HP:0009046
28 facial palsy63 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 Ophthalmoplegia26

Anatomical Context for Minicore Myopathy with External Ophthalmoplegia

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

35
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:

69
id Symbol AA change Variation ID SNP ID
1RYR1p.Arg109TrpVAR_032910rs118192173
2RYR1p.Met2423LysVAR_032915rs118192174
3RYR1p.Met402ThrVAR_063846rs118192117
4RYR1p.His2035LeuVAR_063847rs367543056
5RYR1p.Asn3326LysVAR_063848rs367543057
6RYR1p.Cys3402GlyVAR_063849rs367543058

Clinvar genetic disease variations for Minicore Myopathy with External Ophthalmoplegia:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.14545G> A (p.Val4849Ile)SNVPathogenicrs118192168GRCh37Chr 19, 39071043: 39071043
2RYR1NM_000540.2(RYR1): c.14647-1449A> GSNVPathogenicrs193922886GRCh37Chr 19, 39074134: 39074134
3RYR1NM_000540.2(RYR1): c.325C> T (p.Arg109Trp)SNVLikely pathogenic, Pathogenicrs118192173GRCh37Chr 19, 38934252: 38934252
4RYR1NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys)SNVPathogenicrs118192174GRCh37Chr 19, 38990601: 38990601
5RYR1NM_000540.2(RYR1): c.14365-2A> TSNVPathogenicrs193922870GRCh37Chr 19, 39070620: 39070620
6RYR1NM_000540.2(RYR1): c.10343C> T (p.Ser3448Phe)SNVPathogenicrs193922836GRCh37Chr 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.2097_2123del27 (p.Glu699_Gly707del)deletionPathogenicrs876661306GRCh38Chr 19, 38458222: 38458248
10RYR1NM_000540.2(RYR1): c.6721C> T (p.Arg2241Ter)SNV, CompoundHeterozygotePathogenicrs200563280GRCh38Chr 19, 38496466: 38496466
11RYR1NM_000540.2(RYR1): c.14126C> T (p.Thr4709Met)SNVPathogenicrs118192140GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet