MMD
MCID: MLT028
MIFTS: 29

Multiminicore Disease (MMD) malady

Genetic diseases, Rare diseases categories

Summaries for Multiminicore Disease

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20GeneReviews, 34MalaCards
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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:
20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 63UMLS
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Classifications:

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


Aliases & Descriptions:

multiminicore disease 20 21 23 22
multicore disease 20 44 22
multiminicore myopathy 20 22
multicore myopathy 20 22
minicore myopathy 20 22
minicore disease 20 22
minicore myopathy with external ophthalmoplegia 63
multi-core congenital myopathy 63
multi-minicore disease 22
multiocre myopathy 44
mmd 22


Related Diseases for Multiminicore Disease

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Sources:
18GeneCards, 19GeneDecks
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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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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Sources:
34MalaCards
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MalaCards organs/tissues related to Multiminicore Disease:

34
Testes

Animal Models for Multiminicore Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Multiminicore Disease:

38
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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Sources:
53PubMed
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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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Sources:
2BioGPS, 16Gene 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:
46Novoseek, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Multiminicore Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ryanodine46 30 6211.1RYR1, SEPN1

GO Terms for genes affiliated with Multiminicore Disease

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Sources:
17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet