MMD
MCID: MLT028
MIFTS: 36

Multiminicore Disease (MMD)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Multiminicore Disease

MalaCards integrated aliases for Multiminicore Disease:

Name: Multiminicore Disease 24 25 59 29 6
Multiminicore Myopathy 24 25 59
Multicore Disease 24 53 25
Multi-Minicore Disease 25 37
Multicore Myopathy 24 25
Minicore Myopathy 24 25
Minicore Disease 24 25
Mmd 25 59
Minicore Myopathy with External Ophthalmoplegia 73
Multiocre Myopathy 53

Characteristics:

Orphanet epidemiological data:

59
multiminicore myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA598
UMLS via Orphanet 74 C0270962
ICD10 via Orphanet 34 G71.2
KEGG 37 H01310
UMLS 73 C1850674

Summaries for Multiminicore Disease

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 rigid spine muscular dystrophy 1 and myopathy, congenital, and has symptoms including generalized muscle weakness, edema and ophthalmoplegia. An important gene associated with Multiminicore Disease is SELENON (Selenoprotein N), and among its related pathways/superpathways are Calcium signaling pathway and Long-term depression. Affiliated tissues include skeletal muscle, testes and lung, and related phenotypes are failure to thrive and scoliosis

GeneReviews: NBK1290

Related Diseases for Multiminicore Disease

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 rigid spine muscular dystrophy 1 32.1 RYR1 SELENON
2 myopathy, congenital 32.0 RYR1 SELENON
3 central core disease of muscle 31.6 RYR1 SELENON
4 myopathy 30.2 MEGF10 RYR1 SELENON
5 malignant hyperthermia susceptibility 29.8 LOC107985290 MAP4K1 RYR1
6 congenital fiber-type disproportion 29.7 RYR1 SELENON
7 scoliosis 29.7 MEGF10 RYR1 SELENON
8 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism 12.2
9 minicore myopathy, antenatal onset, with arthrogryposis 12.2
10 antenatal multiminicore disease with arthrogryposis multiplex congenita 12.1
11 minicore myopathy with external ophthalmoplegia 11.9
12 multiple mitochondrial dysfunctions syndrome 11.8
13 malignant hyperthermia 11.4
14 multiple mitochondrial dysfunctions syndrome 1 11.2
15 chudley rozdilsky syndrome 11.2
16 miyoshi muscular dystrophy 1 11.1
17 apnea, obstructive sleep 10.9
18 histidinemia 10.9
19 moyamoya disease 1 10.9
20 holocarboxylase synthetase deficiency 10.9
21 transcobalamin ii deficiency 10.9
22 methylmalonic aciduria and homocystinuria, cblc type 10.9
23 miyoshi muscular dystrophy 3 10.9
24 noonan syndrome 10 10.9
25 female stress incontinence 10.9
26 mixed sleep apnea 10.9
27 phaeohyphomycosis 10.9
28 hemopneumothorax 10.9
29 childhood kidney cell carcinoma 10.9
30 intraocular retinoblastoma 10.9
31 sleep disorder 10.9
32 inherited metabolic disorder 10.9
33 amino acid metabolic disorder 10.9
34 histidine metabolism disease 10.9
35 centronuclear myopathy 10.1
36 multiple pterygium syndrome, escobar variant 10.1
37 ectodermal dysplasia 10.1
38 restrictive cardiomyopathy 10.1
39 hypertrophic cardiomyopathy 10.1
40 small cell cancer of the lung 10.1
41 lung cancer 10.1
42 leukodystrophy 10.1
43 mood disorder 10.1
44 left ventricular noncompaction 10.0
45 respiratory failure 10.0
46 muscular dystrophy 10.0
47 central core myopathy 10.0 RYR1 SELENON
48 miyoshi muscular dystrophy 10.0
49 congenital structural myopathy 10.0 RYR1 SELENON
50 mitochondrial myopathy 10.0

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



Diseases related to Multiminicore Disease

Symptoms & Phenotypes for Multiminicore Disease

Human phenotypes related to Multiminicore Disease:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
2 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
3 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
4 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
5 respiratory insufficiency due to muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002747
6 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
7 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
8 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
9 spinal rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0003306
10 proximal muscle weakness in lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008994
11 proximal muscle weakness in upper limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008997
12 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
13 malignant hyperthermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002047
14 abnormality of muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0004303
15 congenital muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003741
16 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
17 external ophthalmoplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000544
18 distal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002460
19 minicore myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003789
20 respiratory insufficiency 59 Frequent (79-30%)
21 myopathy 59 Very frequent (99-80%)

UMLS symptoms related to Multiminicore Disease:


generalized muscle weakness, edema, ophthalmoplegia, exercise-induced myalgia, facial paresis

Drugs & Therapeutics for Multiminicore Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Survival of Different Core Build-up Materials Completed NCT01449903
2 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
3 Contrast Enhanced MRI of the Prostate Recruiting NCT02245282
4 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Multiminicore Disease

Genetic Tests for Multiminicore Disease

Genetic tests related to Multiminicore Disease:

# Genetic test Affiliating Genes
1 Multiminicore Disease 29 SELENON

Anatomical Context for Multiminicore Disease

MalaCards organs/tissues related to Multiminicore Disease:

41
Skeletal Muscle, Testes, Lung, Kidney

Publications for Multiminicore Disease

Articles related to Multiminicore Disease:

# Title Authors Year
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

ClinVar genetic disease variations for Multiminicore Disease:

6 (show top 50) (show all 640)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.8360C> G (p.Thr2787Ser) single nucleotide variant Benign/Likely benign rs35180584 GRCh37 Chromosome 19, 38995998: 38995998
2 RYR1 NM_000540.2(RYR1): c.8360C> G (p.Thr2787Ser) single nucleotide variant Benign/Likely benign rs35180584 GRCh38 Chromosome 19, 38505358: 38505358
3 RYR1 NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs148772854 GRCh37 Chromosome 19, 39034444: 39034444
4 RYR1 NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs148772854 GRCh38 Chromosome 19, 38543804: 38543804
5 RYR1 NM_000540.2(RYR1): c.9242T> C (p.Met3081Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147012990 GRCh37 Chromosome 19, 39002893: 39002893
6 RYR1 NM_000540.2(RYR1): c.9242T> C (p.Met3081Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147012990 GRCh38 Chromosome 19, 38512253: 38512253
7 RYR1 NM_000540.2(RYR1): c.10119G> A (p.Val3373=) single nucleotide variant Conflicting interpretations of pathogenicity rs140689610 GRCh37 Chromosome 19, 39009954: 39009954
8 RYR1 NM_000540.2(RYR1): c.10119G> A (p.Val3373=) single nucleotide variant Conflicting interpretations of pathogenicity rs140689610 GRCh38 Chromosome 19, 38519314: 38519314
9 RYR1 NM_000540.2(RYR1): c.10188C> T (p.Asp3396=) single nucleotide variant Benign rs2229145 GRCh37 Chromosome 19, 39010023: 39010023
10 RYR1 NM_000540.2(RYR1): c.10188C> T (p.Asp3396=) single nucleotide variant Benign rs2229145 GRCh38 Chromosome 19, 38519383: 38519383
11 RYR1 NM_000540.2(RYR1): c.10218C> T (p.Tyr3406=) single nucleotide variant Benign rs41274330 GRCh37 Chromosome 19, 39010053: 39010053
12 RYR1 NM_000540.2(RYR1): c.10218C> T (p.Tyr3406=) single nucleotide variant Benign rs41274330 GRCh38 Chromosome 19, 38519413: 38519413
13 RYR1 NM_000540.2(RYR1): c.10687-10C> T single nucleotide variant Benign rs77592501 GRCh37 Chromosome 19, 39018277: 39018277
14 RYR1 NM_000540.2(RYR1): c.10687-10C> T single nucleotide variant Benign rs77592501 GRCh38 Chromosome 19, 38527637: 38527637
15 RYR1 NM_000540.2(RYR1): c.10687-7C> T single nucleotide variant Benign/Likely benign rs2960354 GRCh37 Chromosome 19, 39018280: 39018280
16 RYR1 NM_000540.2(RYR1): c.10687-7C> T single nucleotide variant Benign/Likely benign rs2960354 GRCh38 Chromosome 19, 38527640: 38527640
17 RYR1 NM_000540.2(RYR1): c.1077T> C (p.Ala359=) single nucleotide variant Benign rs10406027 GRCh37 Chromosome 19, 38939408: 38939408
18 RYR1 NM_000540.2(RYR1): c.1077T> C (p.Ala359=) single nucleotide variant Benign rs10406027 GRCh38 Chromosome 19, 38448768: 38448768
19 RYR1 NM_000540.2(RYR1): c.10941C> G (p.His3647Gln) single nucleotide variant Benign/Likely benign rs114351116 GRCh37 Chromosome 19, 39019242: 39019242
20 RYR1 NM_000540.2(RYR1): c.10941C> G (p.His3647Gln) single nucleotide variant Benign/Likely benign rs114351116 GRCh38 Chromosome 19, 38528602: 38528602
21 RYR1 NM_000540.2(RYR1): c.12741C> T (p.Ala4247=) single nucleotide variant Benign/Likely benign rs80039127 GRCh37 Chromosome 19, 39055715: 39055715
22 RYR1 NM_000540.2(RYR1): c.12741C> T (p.Ala4247=) single nucleotide variant Benign/Likely benign rs80039127 GRCh38 Chromosome 19, 38565075: 38565075
23 RYR1 NM_000540.2(RYR1): c.12879G> C (p.Ala4293=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922854 GRCh37 Chromosome 19, 39055853: 39055853
24 RYR1 NM_000540.2(RYR1): c.12879G> C (p.Ala4293=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922854 GRCh38 Chromosome 19, 38565213: 38565213
25 RYR1 NM_000540.2(RYR1): c.12990C> T (p.Thr4330=) single nucleotide variant Benign/Likely benign rs184450380 GRCh37 Chromosome 19, 39055964: 39055964
26 RYR1 NM_000540.2(RYR1): c.12990C> T (p.Thr4330=) single nucleotide variant Benign/Likely benign rs184450380 GRCh38 Chromosome 19, 38565324: 38565324
27 RYR1 NM_000540.2(RYR1): c.13317C> T (p.Ala4439=) single nucleotide variant Benign/Likely benign rs113579185 GRCh37 Chromosome 19, 39056291: 39056291
28 RYR1 NM_000540.2(RYR1): c.13317C> T (p.Ala4439=) single nucleotide variant Benign/Likely benign rs113579185 GRCh38 Chromosome 19, 38565651: 38565651
29 RYR1 NM_000540.2(RYR1): c.13671C> G (p.Ser4557=) single nucleotide variant Benign rs35959206 GRCh37 Chromosome 19, 39061258: 39061258
30 RYR1 NM_000540.2(RYR1): c.13671C> G (p.Ser4557=) single nucleotide variant Benign rs35959206 GRCh38 Chromosome 19, 38570618: 38570618
31 RYR1 NM_000540.2(RYR1): c.14256A> C (p.Thr4752=) single nucleotide variant Benign rs1468571 GRCh37 Chromosome 19, 39068641: 39068641
32 RYR1 NM_000540.2(RYR1): c.14256A> C (p.Thr4752=) single nucleotide variant Benign rs1468571 GRCh38 Chromosome 19, 38578001: 38578001
33 RYR1 NM_000540.2(RYR1): c.14505G> A (p.Gly4835=) single nucleotide variant Conflicting interpretations of pathogenicity rs118126378 GRCh37 Chromosome 19, 39070762: 39070762
34 RYR1 NM_000540.2(RYR1): c.14505G> A (p.Gly4835=) single nucleotide variant Conflicting interpretations of pathogenicity rs118126378 GRCh38 Chromosome 19, 38580122: 38580122
35 RYR1 NM_000540.2(RYR1): c.1668G> A (p.Ser556=) single nucleotide variant Benign rs2288888 GRCh37 Chromosome 19, 38946182: 38946182
36 RYR1 NM_000540.2(RYR1): c.1668G> A (p.Ser556=) single nucleotide variant Benign rs2288888 GRCh38 Chromosome 19, 38455542: 38455542
37 RYR1 NM_000540.2(RYR1): c.2286C> T (p.Pro762=) single nucleotide variant Benign rs3745847 GRCh37 Chromosome 19, 38949904: 38949904
38 RYR1 NM_000540.2(RYR1): c.2286C> T (p.Pro762=) single nucleotide variant Benign rs3745847 GRCh38 Chromosome 19, 38459264: 38459264
39 RYR1 NM_000540.2(RYR1): c.2871-5C> T single nucleotide variant Benign rs45585535 GRCh37 Chromosome 19, 38956726: 38956726
40 RYR1 NM_000540.2(RYR1): c.2871-5C> T single nucleotide variant Benign rs45585535 GRCh38 Chromosome 19, 38466086: 38466086
41 RYR1 NM_000540.2(RYR1): c.2943G> A (p.Thr981=) single nucleotide variant Benign rs2228069 GRCh37 Chromosome 19, 38956803: 38956803
42 RYR1 NM_000540.2(RYR1): c.2943G> A (p.Thr981=) single nucleotide variant Benign rs2228069 GRCh38 Chromosome 19, 38466163: 38466163
43 RYR1 NM_000540.2(RYR1): c.2979C> T (p.Asn993=) single nucleotide variant Benign rs2228070 GRCh37 Chromosome 19, 38956839: 38956839
44 RYR1 NM_000540.2(RYR1): c.2979C> T (p.Asn993=) single nucleotide variant Benign rs2228070 GRCh38 Chromosome 19, 38466199: 38466199
45 RYR1 NM_000540.2(RYR1): c.3456C> T (p.Ile1152=) single nucleotide variant Benign rs11083462 GRCh37 Chromosome 19, 38959680: 38959680
46 RYR1 NM_000540.2(RYR1): c.3456C> T (p.Ile1152=) single nucleotide variant Benign rs11083462 GRCh38 Chromosome 19, 38469040: 38469040
47 RYR1 NM_000540.2(RYR1): c.3858T> C (p.Leu1286=) single nucleotide variant Benign rs16972636 GRCh37 Chromosome 19, 38964109: 38964109
48 RYR1 NM_000540.2(RYR1): c.3858T> C (p.Leu1286=) single nucleotide variant Benign rs16972636 GRCh38 Chromosome 19, 38473469: 38473469
49 RYR1 NM_000540.2(RYR1): c.4071C> T (p.Pro1357=) single nucleotide variant Benign/Likely benign rs375709463 GRCh37 Chromosome 19, 38964322: 38964322
50 RYR1 NM_000540.2(RYR1): c.4071C> T (p.Pro1357=) single nucleotide variant Benign/Likely benign rs375709463 GRCh38 Chromosome 19, 38473682: 38473682

Expression for Multiminicore Disease

Search GEO for disease gene expression data for Multiminicore Disease.

Pathways for Multiminicore Disease

Pathways related to Multiminicore Disease according to KEGG:

37
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Long-term depression hsa04730

GO Terms for Multiminicore Disease

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

# Name GO ID Score Top Affiliating Genes
1 skeletal muscle fiber development GO:0048741 9.16 RYR1 SELENON
2 cellular response to caffeine GO:0071313 8.96 RYR1 SELENON
3 skeletal muscle satellite cell differentiation GO:0014816 8.62 MEGF10 SELENON

Sources for Multiminicore Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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