MCID: MLT028
MIFTS: 34

Multiminicore Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Aliases & Classifications for Multiminicore Disease

About this section

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 598
ICD10 via Orphanet28 G71.2

Summaries for Multiminicore Disease

About this section
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 myopathy congenital multicore 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 (Skeletal)). Affiliated tissues include skeletal muscle, lung and testes, and related mouse phenotype respiratory system.

GeneReviews summary for mmd

Related Diseases for Multiminicore Disease

About this section

Diseases in the Multiminicore Disease family:

Ryr1-Related Multiminicore Disease Sepn1-Related Multiminicore Disease

Diseases related to Multiminicore Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1minicore myopathy with external ophthalmoplegia30.4RYR1, SEPN1
2myopathy congenital multicore with external ophthalmoplegia30.1RYR1, SEPN1
3minicore myopathy, antenatal onset, with arthrogryposis10.5
4ryr1-related multiminicore disease10.3
5sepn1-related multiminicore disease10.3
6antenatal multiminicore disease with arthrogryposis multiplex congenita10.3
7moderate multiminicore disease with hand involvement10.3
8multiple mitochondrial dysfunctions syndrome10.3
9central core disease10.2
10muscular dystrophy, rigid spine, 110.2
11malignant hyperthermia10.2
12nemaline myopathy 7, autosomal recessive10.2
13restrictive cardiomyopathy10.2
14chudley rozdilsky syndrome10.2
15cardiomyopathy10.2
16malignant hyperthermia susceptibility10.2
17congenital fiber-type disproportion10.1
18ophthalmoplegia10.1
19muscular dystrophy10.1
20myopathy10.1
21respiratory failure10.1
22left ventricular noncompaction10.1
23classic multiminicore myopathy10.1
24lung cancer10.1
25multiple mitochondrial dysfunctions syndrome 110.1
26miyoshi muscular dystrophy 110.1
27emery-dreifuss muscular dystrophy, dominant type10.1
28emery-dreifuss muscular dystrophy, x-linked10.1
29ischemic heart disease10.1
30mood disorder10.1
31multiple epiphyseal dysplasia, dominant9.9RYR1, SEPN1
32myopathy, congenital, with fiber-type disproportion9.8RYR1, SEPN1
33scrub typhus9.8RYR1, SEPN1
34congenital fibrosis of the extraocular muscles9.7RYR1, SEPN1

Graphical network of the top 20 diseases related to Multiminicore Disease:



Diseases related to multiminicore disease

Symptoms for Multiminicore Disease

About this section

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

Drugs & Therapeutics for Multiminicore Disease

About this section

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

About this section

Genetic tests related to Multiminicore Disease:

id Genetic test Affiliating Genes
1 Multiminicore Disease22 24 RYR1, SEPN1

Anatomical Context for Multiminicore Disease

About this section

MalaCards organs/tissues related to Multiminicore Disease:

33
Skeletal muscle, Lung, Testes

Animal Models for Multiminicore Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Multiminicore Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1RYR1, SEPN1

Publications for Multiminicore Disease

About this section

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

About this section

Clinvar genetic disease variations for Multiminicore Disease:

5 (show all 13)
id Gene Variation 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 variantLikely pathogenic, Pathogenicrs118192173GRCh37Chr 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.14524G> A (p.Val4842Met)single nucleotide variantPathogenicrs193922879GRCh37Chr 19, 39071022: 39071022
9RYR1NM_000540.2(RYR1): c.6721C> T (p.Arg2241Ter)single nucleotide variantPathogenicrs200563280GRCh37Chr 19, 38987106: 38987106
10RYR1RYR1, 27-BP DEL, NT2097deletionPathogenic
11RYR1RYR1, 3-BP DEL, 7043GAG (rs121918596)deletionPathogenic
12RYR1NM_000540.2(RYR1): c.5726_5727delAG (p.Glu1909Glyfs)deletionPathogenicrs387906681GRCh37Chr 19, 38979995: 38979996
13RYR1NM_000540.2(RYR1): c.14126C> T (p.Thr4709Met)single nucleotide variantPathogenicrs118192140GRCh37Chr 19, 39063944: 39063944

Expression for genes affiliated with Multiminicore Disease

About this section
Search GEO for disease gene expression data for Multiminicore Disease.

Pathways for genes affiliated with Multiminicore Disease

About this section

GO Terms for genes affiliated with Multiminicore Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to caffeineGO:00713139.1RYR1, SEPN1
2skeletal muscle fiber developmentGO:00487418.8RYR1, SEPN1

Sources for Multiminicore Disease

About this section
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