MMD
MCID: MLT028
MIFTS: 29

Multiminicore Disease (MMD) malady

Genetic diseases, Rare diseases categories
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Summaries for Multiminicore Disease

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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 testes, and related mouse phenotypes are skeleton and respiratory system.

GeneReviews summary for mmd

Aliases & Classifications for Multiminicore Disease

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Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 62UMLS
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Classifications:

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


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 62
multi-core congenital myopathy 62
multi-minicore disease 21
multiocre myopathy 43
mmd 21


Related Diseases for Multiminicore Disease

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17GeneCards, 18GeneDecks
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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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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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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33MalaCards
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MalaCards organs/tissues related to Multiminicore Disease:

33
Testes

Animal Models for Multiminicore Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Multiminicore Disease:

37
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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52PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Multiminicore Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.14545G> A (p.Val4849Ile)single nucleotide variantPathogenicrs118192168GRCh37Chr 19, 39071043: 39071043
2RYR1NM_000540.2(RYR1): c.14647-1449A> Gsingle nucleotide variantPathogenicrs193922886GRCh37Chr 19, 39074134: 39074134
3RYR1NM_000540.2(RYR1): c.325C> T (p.Arg109Trp)single nucleotide variantPathogenicrs118192173GRCh37Chr 19, 38934252: 38934252
4RYR1NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys)single nucleotide variantPathogenicrs118192174GRCh37Chr 19, 38990601: 38990601
5RYR1NM_000540.2(RYR1): c.14365-2A> Tsingle nucleotide variantPathogenicrs193922870GRCh37Chr 19, 39070620: 39070620
6RYR1NM_000540.2(RYR1): c.10343C> T (p.Ser3448Phe)single nucleotide variantPathogenicrs193922836GRCh37Chr 19, 39013751: 39013751
7RYR1NM_000540.2(RYR1): c.1739_1742dupATCA (p.His581Glnfs)duplicationPathogenicrs193922771GRCh37Chr 19, 38946339: 38946342
8RYR1NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr)single nucleotide variantBenign, Pathogenicrs148772854GRCh37Chr 19, 39034444: 39034444

Expression for genes affiliated with Multiminicore Disease

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2BioGPS, 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:
45Novoseek, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Multiminicore Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ryanodine45 29 6111.1RYR1, SEPN1

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:0055099.1RYR1, SEPN1

Products for genes affiliated with Multiminicore Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiminicore Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet