MCID: MLT028
MIFTS: 32

Multiminicore Disease

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Multiminicore Disease

MalaCards integrated aliases for Multiminicore Disease:

Name: Multiminicore Disease 23 24 55 28
Multiminicore Myopathy 23 24 55
Multicore Disease 23 49 24
Multi-Minicore Disease 24 36
Multicore Myopathy 23 24
Minicore Myopathy 23 24
Minicore Disease 23 24
Mmd 24 55
Minicore Myopathy with External Ophthalmoplegia 69
Multiocre Myopathy 49

Characteristics:

Orphanet epidemiological data:

55
multiminicore myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA598
UMLS via Orphanet 70 C0270962
ICD10 via Orphanet 33 G71.2
KEGG 36 H01310
UMLS 69 C1850674

Summaries for Multiminicore Disease

Genetics Home Reference : 24 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 myopathy, congenital and central core disease of muscle, and has symptoms including strabismus, joint stiffness and respiratory insufficiency. An important gene associated with Multiminicore Disease is SELENON (Selenoprotein N), and among its related pathways/superpathways are Calcium signaling pathway and Long-term depression. Affiliated tissues include skeletal muscle, prostate 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:

55 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
2 joint stiffness 55 31 frequent (33%) Frequent (79-30%) HP:0001387
3 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
4 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
5 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
6 myopathy 55 Very frequent (99-80%)
7 minicore (multicore) myopathy 55 Very frequent (99-80%)
8 minicore myopathy 31 hallmark (90%) HP:0003789

UMLS symptoms related to Multiminicore Disease:


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

Drugs & Therapeutics for Multiminicore Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
2 Contrast Enhanced MRI of the Prostate Recruiting NCT02245282
3 Survival of Different Core Build-up Materials Recruiting NCT01449903
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:

# Genetic test Affiliating Genes
1 Multiminicore Disease 28 SELENON

Anatomical Context for Multiminicore Disease

MalaCards organs/tissues related to Multiminicore Disease:

38
Skeletal Muscle, Prostate, Testes

Publications for Multiminicore Disease

Articles related to Multiminicore Disease:

# 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

Pathways related to Multiminicore Disease according to KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Long-term depression hsa04730

GO Terms for Multiminicore Disease

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

# Name GO ID Score Top Affiliating Genes
1 skeletal muscle fiber development GO:0048741 8.62 RYR1 SELENON

Sources for Multiminicore Disease

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