MMD
MCID: MLT028
MIFTS: 32

Multiminicore Disease (MMD) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Multiminicore Disease

Aliases & Descriptions for Multiminicore Disease:

Name: Multiminicore Disease 23 24 25 56 29
Multiminicore Myopathy 23 24 25 56
Multicore Disease 23 50 24 25
Multicore Myopathy 23 24 25
Minicore Myopathy 23 24 25
Minicore Disease 23 24 25
Mmd 25 56
Minicore Myopathy with External Ophthalmoplegia 69
Multi-Minicore Disease 25
Multiocre Myopathy 50

Characteristics:

Orphanet epidemiological data:

56
multiminicore myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA598
ICD10 via Orphanet 34 G71.2

Summaries for Multiminicore Disease

Genetics Home Reference : 25 Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening.

MalaCards based summary : Multiminicore Disease, also known as multiminicore myopathy, is related to multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism and ryr1-related multiminicore disease, and has symptoms including joint stiffness, respiratory insufficiency and scoliosis. An important gene associated with Multiminicore Disease is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skeletal muscle and testes.

GeneReviews: NBK1290

Related Diseases for Multiminicore Disease

Graphical network of the top 20 diseases related to Multiminicore Disease:



Diseases related to Multiminicore Disease

Symptoms & Phenotypes for Multiminicore Disease

Human phenotypes related to Multiminicore Disease:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 56 32 Frequent (79-30%) HP:0001387
2 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
3 scoliosis 56 32 Frequent (79-30%) HP:0002650
4 strabismus 56 32 Frequent (79-30%) HP:0000486
5 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
6 myopathy 56 Very frequent (99-80%)
7 minicore (multicore) myopathy 56 Very frequent (99-80%)
8 minicore myopathy 32 HP:0003789

UMLS symptoms related to Multiminicore Disease:


edema, ophthalmoplegia, facial paresis, generalized muscle weakness, exercise-induced myalgia

Drugs & Therapeutics for Multiminicore Disease

Interventional clinical trials:


id Name Status NCT ID Phase
1 Survival of Different Core Build-up Materials Unknown status NCT01449903
2 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
3 Contrast Enhanced MRI of the Prostate Recruiting NCT02245282
4 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Multiminicore Disease

Genetic Tests for Multiminicore Disease

Genetic tests related to Multiminicore Disease:

id Genetic test Affiliating Genes
1 Multiminicore Disease 29 24 SELENON RYR1

Anatomical Context for Multiminicore Disease

MalaCards organs/tissues related to Multiminicore Disease:

39
Skeletal Muscle, Testes

Publications for Multiminicore Disease

Articles related to Multiminicore Disease:

id Title Authors Year
1
Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations. ( 26802438 )
2016
2
Left ventricular noncompaction in a patient with multiminicore disease. ( 20729748 )
2012
3
Multiminicore disease with respiratory failure. ( 21397173 )
2011
4
Functional effects of mutations identified in patients with multiminicore disease. ( 17365175 )
2007
5
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. ( 14732627 )
2004
6
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. ( 12192640 )
2002
7
Multiminicore Disease ( 20301467 )
1993
8
Multiminicore disease. Report of a case with histological and histoenzymatic peculiarities. ( 6658348 )
1983

Variations for Multiminicore Disease

Expression for Multiminicore Disease

Search GEO for disease gene expression data for Multiminicore Disease.

Pathways for Multiminicore Disease

GO Terms for Multiminicore Disease

Biological processes related to Multiminicore Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 skeletal muscle fiber development GO:0048741 8.96 RYR1 SELENON
2 cellular response to caffeine GO:0071313 8.62 RYR1 SELENON

Molecular functions related to Multiminicore Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.62 RYR1 SELENON

Sources for Multiminicore Disease

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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