MMD
MCID: MLT028
MIFTS: 31

Multiminicore Disease (MMD) malady

Genetic diseases, Rare diseases categories

Summaries for Multiminicore Disease

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Genetics Home Reference:22 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 multicore disease, is related to congenital fiber-type disproportion and central core myopathy. 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 and testes, and related mouse phenotypes are skeleton and respiratory system.

GeneReviews summary for mmd

Aliases & Classifications for Multiminicore Disease

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Multiminicore Disease, Aliases & Descriptions:

Name: Multiminicore Disease 20 21 23 22
Multicore Disease 20 42 22
Multiminicore Myopathy 20 22
Multicore Myopathy 20 22
Minicore Myopathy 20 22
Minicore Disease 20 22
 
Minicore Myopathy with External Ophthalmoplegia 61
Multi-Core Congenital Myopathy 61
Multi-Minicore Disease 22
Multiocre Myopathy 42
Mmd 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Multiminicore Disease

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



Diseases related to multiminicore disease

Symptoms for Multiminicore Disease

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Drugs & Therapeutics for Multiminicore Disease

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Drug clinical trials:

Search ClinicalTrials for Multiminicore Disease

Search NIH Clinical Center for Multiminicore Disease

Genetic Tests for Multiminicore Disease

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Genetic tests related to Multiminicore Disease:

id Genetic test Affiliating Genes
1 Multiminicore Disease21 23 SEPN1

Anatomical Context for Multiminicore Disease

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MalaCards organs/tissues related to Multiminicore Disease:

32
Skeletal muscle, Testes

Animal Models for Multiminicore Disease or affiliated genes

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MGI Mouse Phenotypes related to Multiminicore Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.1RYR1, SEPN1
2MP:00053889.0RYR1, SEPN1
3MP:00053698.8RYR1, SEPN1

Publications for Multiminicore Disease

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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
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
6
Multiminicore Disease (20301467)
1993
7
Multiminicore disease. Report of a case with histological and histoenzymatic peculiarities. (6658348)
1983

Variations for Multiminicore Disease

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Expression for genes affiliated with Multiminicore Disease

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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

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Compounds for genes affiliated with Multiminicore Disease

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Sources:
44Novoseek, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Multiminicore Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ryanodine44 29 6011.1RYR1, SEPN1

GO Terms for genes affiliated with Multiminicore Disease

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Molecular functions related to Multiminicore Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055099.1RYR1, SEPN1

Products for genes affiliated with Multiminicore Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Multiminicore Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet