MMD
MCID: MLT028
MIFTS: 25

Multiminicore Disease (MMD) malady

Summaries for Multiminicore Disease

Sources:
21Genetics Home Reference, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 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: Multiminicore Disease, also known as multicore disease, is related to central core myopathy and malignant hyperthermia. An important gene associated with Multiminicore Disease is SEPN1 (selenoprotein N, 1). The compound ryanodine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle.

GeneReviews summary for mmd

Aliases & Classifications for Multiminicore Disease

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 61UMLS
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Aliases & Descriptions:

multiminicore disease 19 20 22 21
multicore disease 19 43 21
multiminicore myopathy 19 21
multicore myopathy 19 21
minicore myopathy 19 21
minicore disease 19 21
minicore myopathy with external ophthalmoplegia 61
multi-core congenital myopathy 61
multi-minicore disease 21
multiocre myopathy 43
mmd 21


Related Diseases for Multiminicore Disease

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Multiminicore Disease:



Diseases related to multiminicore disease

Clinical Features for Multiminicore Disease

Drugs & Therapeutics for Multiminicore Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Multiminicore Disease

Drug clinical trials:

Search ClinicalTrials for Multiminicore Disease

Search NIH Clinical Center for Multiminicore Disease

Search CenterWatch for Multiminicore Disease

Genetic Tests for Multiminicore Disease

Sources:
20GeneTests, 22GTR
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Genetic tests related to Multiminicore Disease:

id Genetic test Affiliating Genes
1 Multiminicore Disease20 22 SEPN1

Anatomical Context for Multiminicore Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Multiminicore Disease:

33
Skeletal muscle

Animal Models for Multiminicore Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Multiminicore Disease

Sources:
51PubMed
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Articles related to Multiminicore Disease:

idTitleAuthorsYear
1
Left ventricular noncompaction in a patient with multiminicore disease. (20729748)
2012
2
Multiminicore disease with respiratory failure. (21397173)
2011
3
Functional effects of mutations identified in patients with multiminicore disease. (17365175)
2007
4
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. (14732627)
2004
5
Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? (14732615)
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

Genetic Variations for Multiminicore Disease

Expression for genes affiliated with Multiminicore Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiminicore Disease

Search GEO for disease gene expression data for Multiminicore Disease.

Pathways for genes affiliated with Multiminicore Disease

Compounds for genes affiliated with Multiminicore Disease

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Multiminicore Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ryanodine45 29 6011.0SEPN1, RYR1

GO Terms for genes affiliated with Multiminicore Disease

Sources:
16Gene Ontology
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Molecular functions related to Multiminicore Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055099.0SEPN1, RYR1

Products for genes affiliated with Multiminicore Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiminicore Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet