MCID: MLT028
MIFTS: 32

Multiminicore Disease

Categories: Rare diseases, Neuronal 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 edema, ophthalmoplegia and facial paresis. 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, prostate and testes, and related phenotypes are strabismus and joint stiffness

GeneReviews: NBK1290

Related Diseases for Multiminicore Disease

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 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
2 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
3 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
4 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
5 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
6 myopathy 59 Very frequent (99-80%)
7 minicore (multicore) myopathy 59 Very frequent (99-80%)
8 minicore myopathy 32 hallmark (90%) HP:0003789

UMLS symptoms related to Multiminicore Disease:


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

Drugs & Therapeutics for Multiminicore Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
2 Contrast Enhanced MRI of the Prostate Recruiting NCT02245282
3 Survival of Different Core Build-up Materials Recruiting NCT01449903
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, Prostate, Testes

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 474)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.897G> C (p.Val299=) single nucleotide variant Benign/Likely benign rs76854339 GRCh37 Chromosome 19, 38939091: 38939091
2 RYR1 NM_000540.2(RYR1): c.897G> C (p.Val299=) single nucleotide variant Benign/Likely benign rs76854339 GRCh38 Chromosome 19, 38448451: 38448451
3 RYR1 NM_000540.2(RYR1): c.906C> T (p.Asp302=) single nucleotide variant Benign/Likely benign rs145943283 GRCh37 Chromosome 19, 38939100: 38939100
4 RYR1 NM_000540.2(RYR1): c.906C> T (p.Asp302=) single nucleotide variant Benign/Likely benign rs145943283 GRCh38 Chromosome 19, 38448460: 38448460
5 RYR1 NM_000540.2(RYR1): c.1577-6C> G single nucleotide variant Benign/Likely benign rs61586345 GRCh37 Chromosome 19, 38946085: 38946085
6 RYR1 NM_000540.2(RYR1): c.1577-6C> G single nucleotide variant Benign/Likely benign rs61586345 GRCh38 Chromosome 19, 38455445: 38455445
7 RYR1 NM_000540.2(RYR1): c.2091C> T (p.Ala697=) single nucleotide variant Conflicting interpretations of pathogenicity rs138704724 GRCh37 Chromosome 19, 38948856: 38948856
8 RYR1 NM_000540.2(RYR1): c.2091C> T (p.Ala697=) single nucleotide variant Conflicting interpretations of pathogenicity rs138704724 GRCh38 Chromosome 19, 38458216: 38458216
9 RYR1 NM_000540.2(RYR1): c.2919C> T (p.His973=) single nucleotide variant Conflicting interpretations of pathogenicity rs139363830 GRCh37 Chromosome 19, 38956779: 38956779
10 RYR1 NM_000540.2(RYR1): c.2919C> T (p.His973=) single nucleotide variant Conflicting interpretations of pathogenicity rs139363830 GRCh38 Chromosome 19, 38466139: 38466139
11 RYR1 NM_000540.2(RYR1): c.3876C> A (p.Leu1292=) single nucleotide variant Benign/Likely benign rs143750836 GRCh37 Chromosome 19, 38964127: 38964127
12 RYR1 NM_000540.2(RYR1): c.3876C> A (p.Leu1292=) single nucleotide variant Benign/Likely benign rs143750836 GRCh38 Chromosome 19, 38473487: 38473487
13 RYR1 NM_000540.2(RYR1): c.4894C> T (p.Pro1632Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs76537615 GRCh37 Chromosome 19, 38974116: 38974116
14 RYR1 NM_000540.2(RYR1): c.4894C> T (p.Pro1632Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs76537615 GRCh38 Chromosome 19, 38483476: 38483476
15 RYR1 NM_000540.2(RYR1): c.5622A> G (p.Glu1874=) single nucleotide variant Benign/Likely benign rs35021937 GRCh37 Chromosome 19, 38979891: 38979891
16 RYR1 NM_000540.2(RYR1): c.5622A> G (p.Glu1874=) single nucleotide variant Benign/Likely benign rs35021937 GRCh38 Chromosome 19, 38489251: 38489251
17 RYR1 NM_000540.2(RYR1): c.6262G> A (p.Glu2088Lys) single nucleotide variant Uncertain significance rs587784378 GRCh37 Chromosome 19, 38983264: 38983264
18 RYR1 NM_000540.2(RYR1): c.6262G> A (p.Glu2088Lys) single nucleotide variant Uncertain significance rs587784378 GRCh38 Chromosome 19, 38492624: 38492624
19 RYR1 NM_000540.2(RYR1): c.7281C> T (p.Ala2427=) single nucleotide variant Benign/Likely benign rs77310009 GRCh37 Chromosome 19, 38990614: 38990614
20 RYR1 NM_000540.2(RYR1): c.7281C> T (p.Ala2427=) single nucleotide variant Benign/Likely benign rs77310009 GRCh38 Chromosome 19, 38499974: 38499974
21 RYR1 NM_000540.2(RYR1): c.8068-14C> T single nucleotide variant Benign/Likely benign rs57376136 GRCh37 Chromosome 19, 38995374: 38995374
22 RYR1 NM_000540.2(RYR1): c.8068-14C> T single nucleotide variant Benign/Likely benign rs57376136 GRCh38 Chromosome 19, 38504734: 38504734
23 RYR1 NM_000540.2(RYR1): c.9882C> T (p.Ser3294=) single nucleotide variant Benign/Likely benign rs142610625 GRCh37 Chromosome 19, 39008195: 39008195
24 RYR1 NM_000540.2(RYR1): c.9882C> T (p.Ser3294=) single nucleotide variant Benign/Likely benign rs142610625 GRCh38 Chromosome 19, 38517555: 38517555
25 RYR1 NM_000540.2(RYR1): c.10259+7G> A single nucleotide variant Benign/Likely benign rs143752962 GRCh37 Chromosome 19, 39010101: 39010101
26 RYR1 NM_000540.2(RYR1): c.10259+7G> A single nucleotide variant Benign/Likely benign rs143752962 GRCh38 Chromosome 19, 38519461: 38519461
27 RYR1 NM_000540.2(RYR1): c.11141+7A> G single nucleotide variant Benign/Likely benign rs78350770 GRCh37 Chromosome 19, 39019704: 39019704
28 RYR1 NM_000540.2(RYR1): c.11141+7A> G single nucleotide variant Benign/Likely benign rs78350770 GRCh38 Chromosome 19, 38529064: 38529064
29 RYR1 NM_000540.2(RYR1): c.11625G> A (p.Ala3875=) single nucleotide variant Benign/Likely benign rs61729397 GRCh37 Chromosome 19, 39028536: 39028536
30 RYR1 NM_000540.2(RYR1): c.11625G> A (p.Ala3875=) single nucleotide variant Benign/Likely benign rs61729397 GRCh38 Chromosome 19, 38537896: 38537896
31 RYR1 NM_000540.2(RYR1): c.12094+11A> G single nucleotide variant Benign rs73933018 GRCh37 Chromosome 19, 39037177: 39037177
32 RYR1 NM_000540.2(RYR1): c.12094+11A> G single nucleotide variant Benign rs73933018 GRCh38 Chromosome 19, 38546537: 38546537
33 RYR1 NM_000540.2(RYR1): c.12624+14C> T single nucleotide variant Benign rs75797287 GRCh37 Chromosome 19, 39052108: 39052108
34 RYR1 NM_000540.2(RYR1): c.12624+14C> T single nucleotide variant Benign rs75797287 GRCh38 Chromosome 19, 38561468: 38561468
35 RYR1 NM_000540.2(RYR1): c.13464G> A (p.Pro4488=) single nucleotide variant Benign/Likely benign rs10405232 GRCh37 Chromosome 19, 39057577: 39057577
36 RYR1 NM_000540.2(RYR1): c.13464G> A (p.Pro4488=) single nucleotide variant Benign/Likely benign rs10405232 GRCh38 Chromosome 19, 38566937: 38566937
37 RYR1 NM_000540.2(RYR1): c.14589C> T (p.Phe4863=) single nucleotide variant Benign/Likely benign rs146072491 GRCh37 Chromosome 19, 39071087: 39071087
38 RYR1 NM_000540.2(RYR1): c.14589C> T (p.Phe4863=) single nucleotide variant Benign/Likely benign rs146072491 GRCh38 Chromosome 19, 38580447: 38580447
39 RYR1 NM_000540.2(RYR1): c.2119G> A (p.Gly707Ser) single nucleotide variant Uncertain significance rs376526576 GRCh37 Chromosome 19, 38948884: 38948884
40 RYR1 NM_000540.2(RYR1): c.2119G> A (p.Gly707Ser) single nucleotide variant Uncertain significance rs376526576 GRCh38 Chromosome 19, 38458244: 38458244
41 RYR1 NM_000540.2(RYR1): c.2677G> A (p.Gly893Ser) single nucleotide variant Likely benign rs147336515 GRCh37 Chromosome 19, 38954162: 38954162
42 RYR1 NM_000540.2(RYR1): c.2677G> A (p.Gly893Ser) single nucleotide variant Likely benign rs147336515 GRCh38 Chromosome 19, 38463522: 38463522
43 RYR1 NM_000540.2(RYR1): c.3800C> G (p.Pro1267Arg) single nucleotide variant Uncertain significance rs150495044 GRCh37 Chromosome 19, 38964051: 38964051
44 RYR1 NM_000540.2(RYR1): c.3800C> G (p.Pro1267Arg) single nucleotide variant Uncertain significance rs150495044 GRCh38 Chromosome 19, 38473411: 38473411
45 RYR1 NM_000540.2(RYR1): c.5036G> A (p.Arg1679His) single nucleotide variant Conflicting interpretations of pathogenicity rs146504767 GRCh37 Chromosome 19, 38976331: 38976331
46 RYR1 NM_000540.2(RYR1): c.5036G> A (p.Arg1679His) single nucleotide variant Conflicting interpretations of pathogenicity rs146504767 GRCh38 Chromosome 19, 38485691: 38485691
47 RYR1 NM_000540.2(RYR1): c.9713A> G (p.Glu3238Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200950673 GRCh37 Chromosome 19, 39008026: 39008026
48 RYR1 NM_000540.2(RYR1): c.9713A> G (p.Glu3238Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200950673 GRCh38 Chromosome 19, 38517386: 38517386
49 RYR1 NM_000540.2(RYR1): c.13505A> G (p.Glu4502Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139647387 GRCh37 Chromosome 19, 39057618: 39057618
50 RYR1 NM_000540.2(RYR1): c.13505A> G (p.Glu4502Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139647387 GRCh38 Chromosome 19, 38566978: 38566978

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 8.62 RYR1 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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