MMD
MCID: MLT028
MIFTS: 31

Multiminicore Disease (MMD) malady

Genetic diseases, Rare diseases categories
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Summaries for Multiminicore Disease

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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 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 19 20 22 21
Multicore Disease 19 42 21
Multiminicore Myopathy 19 21
Multicore Myopathy 19 21
Minicore Myopathy 19 21
Minicore Disease 19 21
 
Minicore Myopathy with External Ophthalmoplegia 62
Multi-Core Congenital Myopathy 62
Multi-Minicore Disease 21
Multiocre Myopathy 42
Mmd 21


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 Disease20 22 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, 28IUPHAR, 61Tocris Bioscience
See all sources

Compounds related to Multiminicore Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ryanodine44 28 6111.1RYR1, 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

Sources for Multiminicore Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet