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

Aliases & Descriptions for Minicore Myopathy with External Ophthalmoplegia:

Name: Minicore Myopathy with External Ophthalmoplegia 54 50 66 29 13
Multiminicore Disease with External Ophthalmoplegia 50 66
Multicore Myopathy with External Ophthalmoplegia 50 66
Congenital Multicore Myopathy with External Ophthalmoplegia 56
Mmdo 66

Characteristics:

HPO:

32
minicore myopathy with external ophthalmoplegia:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability neonatal onset


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 255320
Orphanet 56 ORPHA98905
ICD10 via Orphanet 34 G71.2
MedGen 40 C1850674

Summaries for Minicore Myopathy with External Ophthalmoplegia

OMIM : 54 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 joint laxity, generalized muscle weakness and exercise-induced myalgia. 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 : 66 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

Diseases related to Minicore Myopathy with External Ophthalmoplegia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 multiminicore disease 11.2

Symptoms & Phenotypes for Minicore Myopathy with External Ophthalmoplegia

Symptoms by clinical synopsis from OMIM:

255320

Clinical features from OMIM:

255320

Human phenotypes related to Minicore Myopathy with External Ophthalmoplegia:

32 (show all 28)
id Description HPO Frequency HPO Source Accession
1 joint laxity 32 HP:0001388
2 generalized muscle weakness 32 HP:0003324
3 exercise-induced myalgia 32 HP:0003738
4 high palate 32 HP:0000218
5 ptosis 32 HP:0000508
6 respiratory insufficiency 32 HP:0002093
7 scoliosis 32 HP:0002650
8 facial palsy 32 HP:0010628
9 recurrent respiratory infections 32 HP:0002205
10 neonatal hypotonia 32 HP:0001319
11 feeding difficulties in infancy 32 HP:0008872
12 skeletal muscle atrophy 32 HP:0003202
13 hydrops fetalis 32 HP:0001789
14 nemaline bodies 32 HP:0003798
15 polyhydramnios 32 HP:0001561
16 areflexia 32 HP:0001284
17 decreased fetal movement 32 HP:0001558
18 motor delay 32 HP:0001270
19 muscular dystrophy 32 HP:0003560
20 increased connective tissue 32 HP:0009025
21 myopathic facies 32 HP:0002058
22 external ophthalmoplegia 32 HP:0000544
23 pulmonary hypoplasia 32 HP:0002089
24 proximal muscle weakness 32 HP:0003701
25 increased variability in muscle fiber diameter 32 HP:0003557
26 axial muscle weakness 32 HP:0003327
27 difficulty running 32 HP:0009046
28 type 1 and type 2 muscle fiber minicore regions 32 HP:0003787

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Minicore Myopathy with External Ophthalmoplegia

Genetic Tests for Minicore Myopathy with External Ophthalmoplegia

Genetic tests related to Minicore Myopathy with External Ophthalmoplegia:

id Genetic test Affiliating Genes
1 Minicore Myopathy with External Ophthalmoplegia 29

Anatomical Context for Minicore Myopathy with External Ophthalmoplegia

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

39
Skeletal Muscle, Lung

Publications for Minicore Myopathy with External Ophthalmoplegia

Variations for Minicore Myopathy with External Ophthalmoplegia

UniProtKB/Swiss-Prot genetic disease variations for Minicore Myopathy with External Ophthalmoplegia:

66
id Symbol AA change Variation ID SNP ID
1 RYR1 p.Arg109Trp VAR_032910 rs118192173
2 RYR1 p.Met2423Lys VAR_032915 rs118192174
3 RYR1 p.Met402Thr VAR_063846 rs118192117
4 RYR1 p.His2035Leu VAR_063847 rs367543056
5 RYR1 p.Asn3326Lys VAR_063848 rs367543057
6 RYR1 p.Cys3402Gly VAR_063849 rs367543058

ClinVar genetic disease variations for Minicore Myopathy with External Ophthalmoplegia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.14545G> A (p.Val4849Ile) single nucleotide variant Pathogenic rs118192168 GRCh37 Chromosome 19, 39071043: 39071043
2 RYR1 NM_000540.2(RYR1): c.14647-1449A> G single nucleotide variant Pathogenic rs193922886 GRCh37 Chromosome 19, 39074134: 39074134
3 RYR1 NM_000540.2(RYR1): c.325C> T (p.Arg109Trp) single nucleotide variant Pathogenic/Likely pathogenic rs118192173 GRCh37 Chromosome 19, 38934252: 38934252
4 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh37 Chromosome 19, 38990601: 38990601
5 RYR1 NM_000540.2(RYR1): c.14365-2A> T single nucleotide variant Pathogenic rs193922870 GRCh37 Chromosome 19, 39070620: 39070620
6 RYR1 NM_000540.2(RYR1): c.10343C> T (p.Ser3448Phe) single nucleotide variant Pathogenic rs193922836 GRCh37 Chromosome 19, 39013751: 39013751
7 RYR1 NM_000540.2(RYR1): c.1739_1742dupATCA (p.His581Glnfs) duplication Pathogenic rs193922771 GRCh37 Chromosome 19, 38946339: 38946342
8 RYR1 NM_000540.2(RYR1): c.14126C> T (p.Thr4709Met) single nucleotide variant Pathogenic rs118192140 GRCh37 Chromosome 19, 39063944: 39063944
9 RYR1 NM_000540.2(RYR1): c.7042_7044delGAG (p.Glu2348del) deletion Pathogenic,risk factor rs121918596 GRCh38 Chromosome 19, 38499649: 38499651
10 RYR1 NM_000540.2(RYR1): c.2097_2123del27 (p.Glu699_Gly707del) deletion Pathogenic rs876661306 GRCh38 Chromosome 19, 38458222: 38458248

Expression for Minicore Myopathy with External Ophthalmoplegia

Search GEO for disease gene expression data for Minicore Myopathy with External Ophthalmoplegia.

Pathways for Minicore Myopathy with External Ophthalmoplegia

GO Terms for Minicore Myopathy with External Ophthalmoplegia

Sources for Minicore Myopathy with External Ophthalmoplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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