MMDO
MCID: MNC011
MIFTS: 26

Minicore Myopathy with External Ophthalmoplegia (MMDO) 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 52 48 70 27 12
Multiminicore Disease with External Ophthalmoplegia 48 70
Multicore Myopathy with External Ophthalmoplegia 48 70
 
Congenital Multicore Myopathy with External Ophthalmoplegia 54
Mmdo 70

Characteristics:

HPO:

64
minicore myopathy with external ophthalmoplegia:
Inheritance: autosomal recessive inheritance
Onset and clinical course: neonatal onset, phenotypic variability

Classifications:



External Ids:

OMIM52 255320
Orphanet54 ORPHA98905
ICD10 via Orphanet31 G71.2
MedGen37 C1850674

Summaries for Minicore Myopathy with External Ophthalmoplegia

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OMIM:52 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 edema, ophthalmoplegia and facial paresis. 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:70 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 & Phenotypes 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:

 64 (show all 28)
id Description HPO Frequency HPO Source Accession
1 high palate64 HP:0000218
2 ptosis64 HP:0000508
3 external ophthalmoplegia64 HP:0000544
4 motor delay64 HP:0001270
5 areflexia64 HP:0001284
6 neonatal hypotonia64 HP:0001319
7 joint laxity64 HP:0001388
8 decreased fetal movement64 HP:0001558
9 polyhydramnios64 HP:0001561
10 hydrops fetalis64 HP:0001789
11 myopathic facies64 HP:0002058
12 pulmonary hypoplasia64 HP:0002089
13 respiratory insufficiency64 HP:0002093
14 recurrent respiratory infections64 HP:0002205
15 scoliosis64 HP:0002650
16 skeletal muscle atrophy64 HP:0003202
17 generalized muscle weakness64 HP:0003324
18 axial muscle weakness64 HP:0003327
19 increased variability in muscle fiber diameter64 HP:0003557
20 muscular dystrophy64 HP:0003560
21 proximal muscle weakness64 HP:0003701
22 exercise-induced myalgia64 HP:0003738
23 type 1 and type 2 muscle fiber minicore regions64 HP:0003787
24 nemaline bodies64 HP:0003798
25 feeding difficulties in infancy64 HP:0008872
26 increased connective tissue64 HP:0009025
27 difficulty running64 HP:0009046
28 facial palsy64 HP:0010628

UMLS symptoms related to Minicore Myopathy with External Ophthalmoplegia:


edema, ophthalmoplegia, 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 Ophthalmoplegia27

Anatomical Context for Minicore Myopathy with External Ophthalmoplegia

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

36
Skeletal muscle, Lung

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:

70
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
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)SNVPathogenic/ Likely 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.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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet