MCID: MLT028
MIFTS: 34

Multiminicore Disease malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Multiminicore Disease

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Genetics Home Reference:21 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 congenital fiber-type disproportion and central core disease, and has symptoms including myopathy, strabismus and limitation of joint mobility. An important gene associated with Multiminicore Disease is RYR1 (ryanodine receptor 1 (skeletal)). The compound ryanodine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, lung and testes, and related mouse phenotypes are skeleton and respiratory system.

GeneReviews summary for mmd

Aliases & Classifications for Multiminicore Disease

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Multiminicore Disease, Aliases & Descriptions:

Name: Multiminicore Disease 19 20 21 47 22
Multiminicore Myopathy 19 21 47
Multicore Disease 19 41 21
Multicore Myopathy 19 21
Minicore Myopathy 19 21
 
Minicore Disease 19 21
Mmd 21 47
Minicore Myopathy with External Ophthalmoplegia 60
Multi-Minicore Disease 21
Multiocre Myopathy 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
multiminicore disease:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Childhood,Infancy,Neonatal


External Ids:

Orphanet47 598
ICD10 via Orphanet26 G71.2

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:

 47 (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

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Drug clinical trials:

Search ClinicalTrials for Multiminicore Disease

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 Disease20 22 SEPN1

Anatomical Context for Multiminicore Disease

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MalaCards organs/tissues related to Multiminicore Disease:

31
Skeletal muscle, Lung, Testes

Animal Models for Multiminicore Disease or affiliated genes

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MGI Mouse Phenotypes related to Multiminicore Disease:

35
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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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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Clinvar genetic disease variations for Multiminicore Disease:

6 (show all 93)
id Gene Variation Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.7304G> A (p.Arg2435His)single nucleotide variantPathogenicrs28933396GRCh37Chr 19, 38990637: 38990637
2RYR1NM_000540.2(RYR1): c.487C> T (p.Arg163Cys)single nucleotide variantPathogenic, risk factorrs118192161GRCh37Chr 19, 38934851: 38934851
3RYR1NM_000540.2(RYR1): c.1209C> G (p.Ile403Met)single nucleotide variantPathogenicrs118192116GRCh37Chr 19, 38942490: 38942490
4RYR1NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys)single nucleotide variantPathogenic, risk factorrs118192175GRCh37Chr 19, 38985204: 38985204
5RYR1NM_000540.2(RYR1): c.6488G> A (p.Arg2163His)single nucleotide variantPathogenic, risk factorrs118192163GRCh37Chr 19, 38985205: 38985205
6RYR1NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr)single nucleotide variantPathogenic, risk factorrs118192170GRCh37Chr 19, 39075629: 39075629
7RYR1NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys)single nucleotide variantPathogenic, risk factorrs118192167GRCh37Chr 19, 39070644: 39070644
8RYR1NM_000540.2(RYR1): c.12640_12648delCGCCAGTTC (p.Arg4214_Phe4216del)deletionPathogenicrs118192165GRCh37Chr 19, 39055614: 39055622
9RYR1NM_000540.2(RYR1): c.14582G> A (p.Arg4861His)single nucleotide variantPathogenicrs63749869GRCh37Chr 19, 39071080: 39071080
10RYR1NM_000540.2(RYR1): c.14545G> A (p.Val4849Ile)single nucleotide variantPathogenicrs118192168GRCh37Chr 19, 39071043: 39071043
11RYR1NM_000540.2(RYR1): c.14587_14607del21 (p.Phe4863_Asp4869del)deletionPathogenicrs118192169GRCh37Chr 19, 39071085: 39071105
12RYR1NM_000540.2(RYR1): c.14647-1449A> Gsingle nucleotide variantPathogenicrs193922886GRCh37Chr 19, 39074134: 39074134
13RYR1NM_000540.2(RYR1): c.325C> T (p.Arg109Trp)single nucleotide variantPathogenicrs118192173GRCh37Chr 19, 38934252: 38934252
14RYR1NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys)single nucleotide variantPathogenicrs118192174GRCh37Chr 19, 38990601: 38990601
15RYR1NM_000540.2(RYR1): c.14365-2A> Tsingle nucleotide variantPathogenicrs193922870GRCh37Chr 19, 39070620: 39070620
16RYR1NM_000540.2(RYR1): c.10343C> T (p.Ser3448Phe)single nucleotide variantPathogenicrs193922836GRCh37Chr 19, 39013751: 39013751
17RYR1NM_000540.2(RYR1): c.13909A> G (p.Thr4637Ala)single nucleotide variantPathogenicrs118192166GRCh37Chr 19, 39062821: 39062821
18RYR1NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser)single nucleotide variantPathogenic, risk factorrs118192162GRCh37Chr 19, 38945999: 38945999
19RYR1NM_000540.2(RYR1): c.1739_1742dupATCA (p.His581Glnfs)duplicationPathogenicrs193922771GRCh37Chr 19, 38946339: 38946342
20RYR1NM_000540.2(RYR1): c.14761_14762delTTinsAC (p.Phe4921Thr)indelPathogenicrs118192171GRCh37Chr 19, 39075697: 39075698
21RYR1NM_000540.2(RYR1): c.10348-6C> Gsingle nucleotide variantPathogenicrs193922837GRCh37Chr 19, 39013851: 39013851
22RYR1NM_000540.2(RYR1): c.14524G> A (p.Val4842Met)single nucleotide variantPathogenicrs193922879GRCh37Chr 19, 39071022: 39071022
23RYR1NM_000540.2(RYR1): c.5726_5727delAG (p.Glu1909Glyfs)deletionPathogenicrs387906681GRCh37Chr 19, 38979995: 38979996
24RYR1NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr)single nucleotide variantPathogenicrs148772854GRCh37Chr 19, 39034444: 39034444
25RYR1NM_000540.2(RYR1): c.1205T> C (p.Met402Thr)single nucleotide variantPathogenicrs118192117GRCh37Chr 19, 38942486: 38942486
26RYR1NM_000540.2(RYR1): c.14524G> A (p.Val4842Met)single nucleotide variantPathogenicrs193922879GRCh37Chr 19, 39071022: 39071022
27RYR1NP_000531.2: p.4894Qundetermined variantPathogenic
28RYR1NM_000540.2(RYR1): c.4729G> A (p.Ala1577Thr)single nucleotide variantPathogenicrs118192120GRCh37Chr 19, 38973951: 38973951
29RYR1NM_000540.2(RYR1): c.12986C> A (p.Ala4329Asp)single nucleotide variantPathogenicrs118192129GRCh37Chr 19, 39055960: 39055960
30RYR1NM_000540.2(RYR1): c.14537C> T (p.Ala4846Val)single nucleotide variantPathogenicrs118192143GRCh37Chr 19, 39071035: 39071035
31RYR1NM_000540.2(RYR1): c.14717C> T (p.Ala4906Val)single nucleotide variantPathogenicrs118192153GRCh37Chr 19, 39075653: 39075653
32RYR1NM_000540.2(RYR1): c.14818G> A (p.Ala4940Thr)single nucleotide variantPathogenicrs118192158GRCh37Chr 19, 39076592: 39076592
33RYR1NM_000540.2(RYR1): c.178G> A (p.Asp60Asn)single nucleotide variantPathogenicrs118192160GRCh37Chr 19, 38933001: 38933001
34RYR1NM_000540.2(RYR1): c.7635G> C (p.Glu2545Asp)single nucleotide variantPathogenicrs193922820GRCh37Chr 19, 38993167: 38993167
35RYR1NM_000540.2(RYR1): c.13900G> A (p.Glu4634Lys)single nucleotide variantPathogenicrs118192133GRCh37Chr 19, 39062812: 39062812
36RYR1NM_000540.2(RYR1): c.1534G> A (p.Glu512Lys)single nucleotide variantPathogenicrs118192119GRCh37Chr 19, 38945968: 38945968
37RYR1NP_000531.2: p.F4808Pundetermined variantPathogenic
38RYR1NP_000531.2: p.F4860deldeletionPathogenic
39RYR1NP_000531.2: p.F4906deldeletionPathogenic
40RYR1NM_000540.2(RYR1): c.14762T> C (p.Phe4921Ser)single nucleotide variantPathogenicrs118192156GRCh37Chr 19, 39075698: 39075698
41RYR1NM_000540.2(RYR1): c.644G> A (p.Gly215Glu)single nucleotide variantPathogenicrs118192115GRCh37Chr 19, 38937124: 38937124
42RYR1NM_000540.2(RYR1): c.13913G> A (p.Gly4638Asp)single nucleotide variantPathogenicrs118192135GRCh37Chr 19, 39062825: 39062825
43RYR1NP_000531.2: p.G4638Nundetermined variantPathogenic
44RYR1NM_000540.2(RYR1): c.13912G> A (p.Gly4638Ser)single nucleotide variantPathogenicrs118192136GRCh37Chr 19, 39062824: 39062824
45RYR1NP_000531.2: p.G4890Rundetermined variantPathogenic
46RYR1NM_000540.2(RYR1): c.14671G> C (p.Gly4891Arg)single nucleotide variantPathogenicrs118192149GRCh37Chr 19, 39075607: 39075607
47RYR1NP_000531.2: p.G4893Rundetermined variantPathogenic
48RYR1NM_000540.2(RYR1): c.14690G> T (p.Gly4897Val)single nucleotide variantPathogenicrs118192148GRCh37Chr 19, 39075626: 39075626
49RYR1NM_000540.2(RYR1): c.14696G> A (p.Gly4899Glu)single nucleotide variantPathogenicrs118192183GRCh37Chr 19, 39075632: 39075632
50RYR1NP_000531.2: p.G4899Rundetermined variantPathogenic
51RYR1NM_000540.2(RYR1): c.13952A> C (p.His4651Pro)single nucleotide variantPathogenicrs118192139GRCh37Chr 19, 39062864: 39062864
52RYR1NM_000540.2(RYR1): c.14659C> T (p.His4887Tyr)single nucleotide variantPathogenicrs118192147GRCh37Chr 19, 39075595: 39075595
53RYR1NM_000540.2(RYR1): c.7358T> C (p.Ile2453Thr)single nucleotide variantPathogenicrs118192123GRCh37Chr 19, 38991280: 38991280
54RYR1NM_000540.2(RYR1): c.14814C> G (p.Ile4938Met)single nucleotide variantPathogenicrs118192159GRCh37Chr 19, 39076588: 39076588
55RYR1NM_000540.2(RYR1): c.10100A> G (p.Lys3367Arg)single nucleotide variantPathogenicrs118192126GRCh37Chr 19, 39009935: 39009935
56RYR1NM_000540.2(RYR1): c.14170A> C (p.Lys4724Gln)single nucleotide variantPathogenicrs118192141GRCh37Chr 19, 39066599: 39066599
57RYR1NM_000540.2(RYR1): c.10817T> C (p.Leu3606Pro)single nucleotide variantPathogenicrs118192127GRCh37Chr 19, 39018417: 39018417
58RYR1NM_000540.2(RYR1): c.13703T> C (p.Leu4568Pro)single nucleotide variantPathogenicrs118192131GRCh37Chr 19, 39061290: 39061290
59RYR1NP_000531.2: p.L4647del2deletionPathogenic
60RYR1NM_000540.2(RYR1): c.13949T> C (p.Leu4650Pro)single nucleotide variantPathogenicrs118192138GRCh37Chr 19, 39062861: 39062861
61RYR1NM_000540.2(RYR1): c.14378T> C (p.Leu4793Pro)single nucleotide variantPathogenicrs118192179GRCh37Chr 19, 39070635: 39070635
62RYR1NP_000531.2: p.L4796Cundetermined variantPathogenic
63RYR1NM_000540.2(RYR1): c.14440C> T (p.Leu4814Phe)single nucleotide variantPathogenicrs118192142GRCh37Chr 19, 39070697: 39070697
64RYR1NP_000531.2: p.M2434Kundetermined variantPathogenic
65RYR1NM_000540.2(RYR1): c.6847A> C (p.Asn2283His)single nucleotide variantPathogenicrs118192121GRCh37Chr 19, 38987550: 38987550
66RYR1NM_000540.2(RYR1): c.14572A> G (p.Asn4858Asp)single nucleotide variantPathogenicrs118192144GRCh37Chr 19, 39071070: 39071070
67RYR1NP_000531.2: p.N4939Qundetermined variantPathogenic
68RYR1NP_000531.2: p.Q160Gundetermined variantPathogenic
69RYR1NP_000531.2: p.Q474Hundetermined variantPathogenic
70RYR1NP_000531.2: p.Q512Kundetermined variantPathogenic
71RYR1NP_000531.2: p.R146Cundetermined variantPathogenic
72RYR1NP_000531.2: p.R2434Hundetermined variantPathogenic
73RYR1NM_000540.2(RYR1): c.7354C> T (p.Arg2452Trp)single nucleotide variantPathogenicrs118192124GRCh37Chr 19, 38991276: 38991276
74RYR1NM_000540.2(RYR1): c.7361G> A (p.Arg2454His)single nucleotide variantPathogenicrs118192122GRCh37Chr 19, 38991283: 38991283
75RYR1NM_000540.2(RYR1): c.7522C> T (p.Arg2508Cys)single nucleotide variantPathogenicrs118192178GRCh37Chr 19, 38991538: 38991538
76RYR1NM_000540.2(RYR1): c.8816G> A (p.Arg2939Lys)single nucleotide variantPathogenicrs118192125GRCh37Chr 19, 38997592: 38997592
77RYR1NM_000540.2(RYR1): c.13673G> A (p.Arg4558Gln)single nucleotide variantPathogenicrs118192130GRCh37Chr 19, 39061260: 39061260
78RYR1NM_000540.2(RYR1): c.14473C> T (p.Arg4825Cys)single nucleotide variantPathogenicrs118192180GRCh37Chr 19, 39070730: 39070730
79RYR1NM_000540.2(RYR1): c.14581C> T (p.Arg4861Cys)single nucleotide variantPathogenicrs118192181GRCh37Chr 19, 39071079: 39071079
80RYR1NM_000540.2(RYR1): c.14678G> C (p.Arg4893Pro)single nucleotide variantPathogenicrs118192151GRCh37Chr 19, 39075614: 39075614
81RYR1NM_000540.2(RYR1): c.14678G> A (p.Arg4893Gln)single nucleotide variantPathogenicrs118192151GRCh37Chr 19, 39075614: 39075614
82RYR1NM_000540.2(RYR1): c.14677C> T (p.Arg4893Trp)single nucleotide variantPathogenicrs118192150GRCh37Chr 19, 39075613: 39075613
83RYR1NM_000540.2(RYR1): c.14740A> G (p.Arg4914Gly)single nucleotide variantPathogenicrs118192184GRCh37Chr 19, 39075676: 39075676
84RYR1NM_000540.2(RYR1): c.14741G> C (p.Arg4914Thr)single nucleotide variantPathogenicrs118192154GRCh37Chr 19, 39075677: 39075677
85RYR1NM_000540.2(RYR1): c.1280C> T (p.Ser427Leu)single nucleotide variantPathogenicrs118192118GRCh37Chr 19, 38943494: 38943494
86RYR1NM_000540.2(RYR1): c.212C> A (p.Ser71Tyr)single nucleotide variantPathogenicrs118192113GRCh37Chr 19, 38933035: 38933035
87RYR1NM_000540.2(RYR1): c.13910C> T (p.Thr4637Ile)single nucleotide variantPathogenicrs118192134GRCh37Chr 19, 39062822: 39062822
88RYR1NM_000540.2(RYR1): c.14126C> T (p.Thr4709Met)single nucleotide variantPathogenicrs118192140GRCh37Chr 19, 39063944: 39063944
89RYR1NM_000540.2(RYR1): c.14759C> A (p.Thr4920Asn)single nucleotide variantPathogenicrs118192155GRCh37Chr 19, 39075695: 39075695
90RYR1NP_000531.2: p.V4849Rundetermined variantPathogenic
91RYR1NM_000540.2(RYR1): c.14779_14784delGTCATC (p.Val4927_Ile4928del)deletionPathogenicrs193922893GRCh37Chr 19, 39075715: 39075720
92RYR1NM_000540.2(RYR1): c.13891T> A (p.Tyr4631Asn)single nucleotide variantPathogenicrs118192132GRCh37Chr 19, 39062803: 39062803
93RYR1NM_000540.2(RYR1): c.14591A> G (p.Tyr4864Cys)single nucleotide variantPathogenicrs118192146GRCh37Chr 19, 39071089: 39071089

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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Compounds for genes affiliated with Multiminicore Disease

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Sources:
43Novoseek, 28IUPHAR, 59Tocris Bioscience
See all sources

Compounds related to Multiminicore Disease according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1ryanodine43 28 5911.1RYR1, SEPN1

GO Terms for genes affiliated with Multiminicore Disease

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

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

Products for genes affiliated with Multiminicore Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Multiminicore Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet