MCID: MLT028
MIFTS: 31

Multiminicore Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Multiminicore Disease

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Aliases & Descriptions for Multiminicore Disease:

Name: Multiminicore Disease 22 23 24 52 25
Multiminicore Myopathy 22 23 24 52
Multicore Disease 22 46 23 24
Multicore Myopathy 22 23 24
Minicore Myopathy 22 23 24
 
Minicore Disease 22 23 24
Mmd 24 52
Minicore Myopathy with External Ophthalmoplegia 66
Multi-Minicore Disease 24
Multiocre Myopathy 46

Characteristics:

Orphanet epidemiological data:

52
multiminicore disease:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Childhood,Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA598
ICD10 via Orphanet29 G71.2

Summaries for Multiminicore Disease

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Genetics Home Reference:24 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 multiminicore myopathy, is related to multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism and ryr1-related multiminicore disease, and has symptoms including myopathy, strabismus and limitation of joint mobility. An important gene associated with Multiminicore Disease is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skeletal muscle, prostate and testes.

GeneReviews summary for NBK1290

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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Symptoms:

 52 (show all 7)
  • strabismus
  • joint stiffness
  • respiratory insufficiency
  • scoliosis
  • myopathy
  • minicore (multicore) myopathy
  • joint hyperflexibility

HPO human phenotypes related to Multiminicore Disease:

(show all 6)
id Description Frequency HPO Source Accession
1 myopathy hallmark (90%) HP:0003198
2 strabismus typical (50%) HP:0000486
3 limitation of joint mobility typical (50%) HP:0001376
4 joint hypermobility typical (50%) HP:0001382
5 respiratory insufficiency typical (50%) HP:0002093
6 scoliosis typical (50%) HP:0002650

UMLS symptoms related to Multiminicore Disease:


ophthalmoplegia, myopathic facies, facial paresis, generalized muscle weakness, exercise-induced myalgia

Drugs & Therapeutics for Multiminicore Disease

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
2Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
3Contrast Enhanced MRI of the ProstateRecruitingNCT02245282
4Survival of Different Core Build-up MaterialsRecruitingNCT01449903

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 Disease25 23 RYR1, SEPN1

Anatomical Context for Multiminicore Disease

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MalaCards organs/tissues related to Multiminicore Disease:

34
Skeletal muscle, Prostate, Testes

Animal Models for Multiminicore Disease or affiliated genes

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Publications for Multiminicore Disease

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Articles related to Multiminicore Disease:

idTitleAuthorsYear
1
Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations. (26802438)
2016
2
Left ventricular noncompaction in a patient with multiminicore disease. (20729748)
2012
3
Multiminicore disease with respiratory failure. (21397173)
2011
4
Functional effects of mutations identified in patients with multiminicore disease. (17365175)
2007
5
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. (14732627)
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

Variations for Multiminicore Disease

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Clinvar genetic disease variations for Multiminicore Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.7042_7044delGAG (p.Glu2348del)deletionPathogenic, risk factorrs121918596GRCh38Chr 19, 38499649: 38499651
2RYR1NM_000540.2(RYR1): c.6721C> T (p.Arg2241Ter)single nucleotide variantPathogenicrs200563280GRCh37Chr 19, 38987106: 38987106
3RYR1NM_000540.2(RYR1): c.6721C> T (p.Arg2241Ter)single nucleotide variantPathogenicrs200563280GRCh37Chr 19, 38987106: 38987106

Expression for genes affiliated with Multiminicore Disease

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Search GEO for disease gene expression data for Multiminicore Disease.

Pathways for genes affiliated with Multiminicore Disease

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GO Terms for genes affiliated with Multiminicore Disease

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Biological processes related to Multiminicore Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle fiber developmentGO:00487419.1RYR1, SEPN1
2cellular response to caffeineGO:00713138.8RYR1, SEPN1

Molecular functions related to Multiminicore Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055099.1RYR1, SEPN1

Sources for Multiminicore Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet