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 21 22 23 51 24
Multiminicore Myopathy 21 22 23 51
Multicore Disease 21 45 22 23
Multicore Myopathy 21 22 23
Minicore Myopathy 21 22 23
 
Minicore Disease 21 22 23
Mmd 23 51
Minicore Myopathy with External Ophthalmoplegia 65
Multi-Minicore Disease 23
Multiocre Myopathy 45

Characteristics:

Orphanet epidemiological data:

51
multiminicore disease:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Childhood,Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 598
ICD10 via Orphanet28 G71.2
UMLS65 C1850674

Summaries for Multiminicore Disease

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Genetics Home Reference:23 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 minicore myopathy with external ophthalmoplegia and congenital multicore myopathy with external ophthalmoplegia, 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, thyroid and prostate.

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:

 51 (show all 8)
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • autosomal recessive inheritance
  • strabismus/squint
  • scoliosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • restricted joint mobility/joint stiffness/ankylosis
  • hyperextensible joints/articular hyperlaxity

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:


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

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 Disease22 SEPN1, RYR1

Anatomical Context for Multiminicore Disease

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MalaCards organs/tissues related to Multiminicore Disease:

33
Skeletal muscle, Thyroid, Prostate, Lung, Temporal lobe, Endothelial, Monocytes

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

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

Sources for Multiminicore Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet