MMD
MCID: MLT028
MIFTS: 27

Multiminicore Disease (MMD) malady

Summaries for Multiminicore Disease

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21Genetics Home Reference, 19GeneReviews, 32MalaCards
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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 and testes.

GeneReviews summary for mmd

Aliases & Classifications for Multiminicore Disease

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Sources:
19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

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 60
multi-core congenital myopathy 60
multi-minicore disease 21
multiocre myopathy 42
mmd 21


Related Diseases for Multiminicore Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Multiminicore Disease family:

Ryr1-Related Multiminicore Disease Sepn1-Related Multiminicore Disease

Diseases related to Multiminicore Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1central core myopathy30.2RYR1, SEPN1
2malignant hyperthermia30.2RYR1, SEPN1
3congenital fiber-type disproportion30.0SEPN1
4respiratory failure30.0RYR1
5myopathy30.0RYR1, SEPN1
6antenatal multiminicore disease with arthrogryposis multiplex congenita10.4
7minicore myopathy, antenatal onset, with arthrogryposis10.4
8centronuclear myopathy10.2
9minicore myopathy with external ophthalmoplegia10.2
10ryr1-related multiminicore disease10.2
11sepn1-related multiminicore disease10.2
12restrictive cardiomyopathy10.1
13short-chain acyl-coa dehydrogenase deficiency10.1
14chudley rozdilsky syndrome10.1
15hyperhomocysteinemia10.1
16homocystinuria10.1
17hepatitis b10.1
18hepatitis10.1
19lung cancer10.1
20ophthalmoplegia10.0
21muscular dystrophy10.0
22malignant hyperthermia susceptibility10.0
23rigid spine syndrome10.0
24muscular dystrophy, rigid spine, 110.0
25beckwith-wiedemann syndrome10.0RSS
26myopathy congenital10.0RYR1, SEPN1
27neuropathy10.0RYR1, SEPN1
28moyamoya disease9.9
29isovaleric acidemia9.9
30maple syrup urine disease9.9
31propionic acidemia9.9
32hyperglycemia9.9
33malaria9.9
34mastitis9.9
35methylmalonic acidemia9.9
36mood disorder9.9
37multiple carboxylase deficiency9.9
38obesity9.9
39personality disorder9.9
40pneumonia9.9
41tuberculosis9.9
42vitamin b12 deficiency9.9

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



Diseases related to multiminicore disease

Clinical Features for Multiminicore Disease

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Drugs & Therapeutics for Multiminicore Disease

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Sources:
5CenterWatch, 41NIH 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

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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

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32MalaCards
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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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Publications for Multiminicore Disease

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50PubMed
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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

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Expression for genes affiliated with Multiminicore Disease

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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

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Compounds for genes affiliated with Multiminicore Disease

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Sources:
44Novoseek, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Multiminicore Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ryanodine44 28 5911.0SEPN1, RYR1

GO Terms for genes affiliated with Multiminicore Disease

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet