MCID: MLT028
MIFTS: 30

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 23 24 25 54 27
Multiminicore Myopathy 23 24 25 54
Multicore Disease 23 48 24 25
Multicore Myopathy 23 24 25
Minicore Myopathy 23 24 25
 
Minicore Disease 23 24 25
Mmd 25 54
Minicore Myopathy with External Ophthalmoplegia 68
Multi-Minicore Disease 25
Multiocre Myopathy 48

Characteristics:

Orphanet epidemiological data:

54
multiminicore disease:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Childhood,Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA598
ICD10 via Orphanet31 G71.2

Summaries for Multiminicore Disease

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Genetics Home Reference:25 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 for NBK1290

Related Diseases for Multiminicore Disease

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Graphical network of diseases related to Multiminicore Disease:



Diseases related to multiminicore disease

Symptoms & Phenotypes for Multiminicore Disease

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Human phenotypes related to Multiminicore Disease:

 64 54 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopathy64 54 hallmark (90%) Very frequent (99-80%) HP:0003198
2 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
3 limitation of joint mobility64 typical (50%) HP:0001376
4 joint hypermobility64 typical (50%) HP:0001382
5 respiratory insufficiency64 54 typical (50%) Frequent (79-30%) HP:0002093
6 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
7 joint stiffness54 Frequent (79-30%)
8 minicore (multicore) myopathy54 Very frequent (99-80%)
9 joint hyperflexibility54 Frequent (79-30%)

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
2Contrast Enhanced MRI of the ProstateRecruitingNCT02245282
3Survival of Different Core Build-up MaterialsRecruitingNCT01449903
4Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

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 Disease27 24 RYR1, SELENON

Anatomical Context for Multiminicore Disease

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MalaCards organs/tissues related to Multiminicore Disease:

36
Skeletal muscle, Prostate, Testes

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 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.14545G> A (p.Val4849Ile)SNVPathogenicrs118192168GRCh37Chr 19, 39071043: 39071043
2RYR1NM_000540.2(RYR1): c.14647-1449A> GSNVPathogenicrs193922886GRCh37Chr 19, 39074134: 39074134
3RYR1NM_000540.2(RYR1): c.325C> T (p.Arg109Trp)SNVLikely pathogenic, Pathogenicrs118192173GRCh37Chr 19, 38934252: 38934252
4RYR1NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys)SNVPathogenicrs118192174GRCh37Chr 19, 38990601: 38990601
5RYR1NM_000540.2(RYR1): c.14365-2A> TSNVPathogenicrs193922870GRCh37Chr 19, 39070620: 39070620
6RYR1NM_000540.2(RYR1): c.10343C> T (p.Ser3448Phe)SNVPathogenicrs193922836GRCh37Chr 19, 39013751: 39013751
7RYR1NM_000540.2(RYR1): c.1739_1742dupATCA (p.His581Glnfs)duplicationPathogenicrs193922771GRCh37Chr 19, 38946339: 38946342
8RYR1NM_000540.2(RYR1): c.7042_7044delGAG (p.Glu2348del)deletionPathogenic, risk factorrs121918596GRCh38Chr 19, 38499649: 38499651
9RYR1NM_000540.2(RYR1): c.2097_2123del27 (p.Glu699_Gly707del)deletionPathogenicrs876661306GRCh38Chr 19, 38458222: 38458248
10RYR1NM_000540.2(RYR1): c.6721C> T (p.Arg2241Ter)SNV, CompoundHeterozygotePathogenicrs200563280GRCh38Chr 19, 38496466: 38496466
11RYR1NM_000540.2(RYR1): c.14126C> T (p.Thr4709Met)SNVPathogenicrs118192140GRCh37Chr 19, 39063944: 39063944

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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Sources for Multiminicore Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet