MCID: MYP101
MIFTS: 50

Myopathy, Centronuclear malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Myopathy, Centronuclear

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OMIM:45 Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular... (160150) more...

MalaCards based summary: Myopathy, Centronuclear, also known as centronuclear myopathy, is related to myopathy and myotonic dystrophy, and has symptoms including muscular hypotonia, gait disturbance and amyotrophy. An important gene associated with Myopathy, Centronuclear is DNM2 (dynamin 2), and among its related pathways are Arf6 trafficking events and G protein signaling G Protein alpha i signaling cascades. The compounds ryanodine and Phosphate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and eye, and related mouse phenotypes are respiratory system and skeleton.

Disease Ontology:9 A myopathy characterized by abnormally located nuclei in skeletal muscle cells. the nuclei are located in the center of the cell, instead of their normal location at the periphery.

Genetics Home Reference:21 Centronuclear myopathy is a condition that primarily affects skeletal muscles, which are the muscles that are used for movement. Researchers have described two forms of centronuclear myopathy, which are differentiated by their pattern of inheritance: autosomal dominant and autosomal recessive.

Aliases & Classifications for Myopathy, Centronuclear

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 27ICD9CM, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Myopathy, Centronuclear, Aliases & Descriptions:

Name: Myopathy, Centronuclear 45 10
Centronuclear Myopathy 9 41 21 11 43 60
Autosomal Recessive Centronuclear Myopathy 21 47 22 60
Autosomal Dominant Myotubular Myopathy 21 60
Centronuclear Myopathy 1 20 22
Myopathy, Myotubular 41 22
Myotubular Myopathy 9 21
Centronuclear Myopathy, Autosomal, Modifier of 45
 
Myopathy, Centronuclear, Autosomal Recessive 60
Myopathy, Centronuclear, Autosomal Dominant 60
Autosomal Dominant Centronuclear Myopathy 47
Congenital Structural Myopathy 60
Myotubular Myopathy 1 21
Ad-Cnm 47
Ar-Cnm 47
Cnm 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
autosomal recessive centronuclear myopathy:
Inheritance: Autosomal recessive; Age of onset: Childhood
autosomal dominant centronuclear myopathy:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy


External Ids:

OMIM45 160150
Disease Ontology9 DOID:14717
MeSH33 D020914
ICD9CM27 359.0
SNOMED-CT55 193223007, 82077006
Orphanet47 169186, 169189
ICD10 via Orphanet26 G71.2
UMLS via Orphanet61 C0410204

Related Diseases for Myopathy, Centronuclear

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Graphical network of the top 20 diseases related to Myopathy, Centronuclear:



Diseases related to myopathy, centronuclear

Symptoms for Myopathy, Centronuclear

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Symptoms by clinical synopsis from OMIM:

160150

Clinical features from OMIM:

160150

HPO human phenotypes related to Myopathy, Centronuclear:

(show all 25)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 gait disturbance hallmark (90%) HP:0001288
3 amyotrophy hallmark (90%) HP:0003202
4 emg abnormality hallmark (90%) HP:0003457
5 mask-like facies typical (50%) HP:0000298
6 ptosis typical (50%) HP:0000508
7 ophthalmoparesis typical (50%) HP:0000597
8 seizures typical (50%) HP:0001250
9 reduced tendon reflexes typical (50%) HP:0001315
10 respiratory insufficiency typical (50%) HP:0002093
11 scoliosis typical (50%) HP:0002650
12 arrhythmia typical (50%) HP:0011675
13 muscle hypertrophy rare (5%) HP:0003712
14 autosomal dominant inheritance HP:0000006
15 ptosis HP:0000508
16 external ophthalmoplegia HP:0000544
17 motor delay HP:0001270
18 areflexia HP:0001284
19 flexion contracture HP:0001371
20 easy fatigability HP:0003388
21 slow progression HP:0003677
22 centrally nucleated skeletal muscle fibers HP:0003687
23 proximal muscle weakness HP:0003701
24 sleepy facial expression HP:0005335
25 facial palsy HP:0010628

Drugs & Therapeutics for Myopathy, Centronuclear

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Drug clinical trials:

Search ClinicalTrials for Myopathy, Centronuclear

Search NIH Clinical Center for Myopathy, Centronuclear

Genetic Tests for Myopathy, Centronuclear

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Genetic tests related to Myopathy, Centronuclear:

id Genetic test Affiliating Genes
1 Centronuclear Myopathy 120 DNM2
2 Myotubular Myopathy22
3 Myopathy, Centronuclear, 122
4 Autosomal Recessive Centronuclear Myopathy22

Anatomical Context for Myopathy, Centronuclear

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MalaCards organs/tissues related to Myopathy, Centronuclear:

31
Skeletal muscle, Eye

Animal Models for Myopathy, Centronuclear or affiliated genes

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MGI Mouse Phenotypes related to Myopathy, Centronuclear:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6SPEG, MTM1, RYR1, MYF6
2MP:00053908.3RYR1, MTM1, MYF6, TTN
3MP:00053788.3RYR1, DNM2, MTM1, MYF6, TTN
4MP:00053868.2TTN, MTM1, MTMR14, BIN1, RYR1
5MP:00053848.1BIN1, RYR1, DNM2, MTM1, TTN
6MP:00053768.0BIN1, RYR1, MTM1, TTN, MTMR14, MYF6
7MP:00053857.8TTN, MTMR14, RYR1, BIN1, SPEG, MTM1
8MP:00107687.4DNM2, SPEG, RYR1, BIN1, MTM1, MYF6
9MP:00053697.1MTMR14, MYF6, TTN, SPEG, MTM1, RYR1

Publications for Myopathy, Centronuclear

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Articles related to Myopathy, Centronuclear:

idTitleAuthorsYear
1
Pathological cases of the month. Myotubular myopathy (centronuclear myopathy). (8352228)
1993

Variations for Myopathy, Centronuclear

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UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Centronuclear:

62 (show all 19)
id Symbol AA change Variation ID SNP ID
1DNM2p.Glu368LysVAR_031962
2DNM2p.Arg369GlnVAR_031963
3DNM2p.Arg369TrpVAR_031964
4DNM2p.Arg465TrpVAR_031965
5DNM2p.Ala618ThrVAR_039041
6DNM2p.Ser619LeuVAR_039042
7DNM2p.Ser619TrpVAR_039043
8DNM2p.Glu650LysVAR_062576
9DNM2p.Glu368GlnVAR_068365
10DNM2p.Arg522CysVAR_068366
11DNM2p.Arg522HisVAR_068367
12DNM2p.Arg523GlyVAR_068368
13DNM2p.Glu560LysVAR_068369
14DNM2p.Ala618AspVAR_068370
15DNM2p.Leu621ProVAR_068371
16DNM2p.Pro627HisVAR_068372
17DNM2p.Pro627ArgVAR_068373
18MTMR14p.Arg336GlnVAR_033370rs121434509
19MTMR14p.Tyr462CysVAR_033371rs121434510

Clinvar genetic disease variations for Myopathy, Centronuclear:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MYF6NM_002469.2(MYF6): c.334G> T (p.Ala112Ser)single nucleotide variantPathogenicrs28928909GRCh37Chr 12, 81101832: 81101832
2DNM2NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln)single nucleotide variantPathogenicrs121909089GRCh37Chr 19, 10904509: 10904509
3DNM2NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp)single nucleotide variantPathogenicrs121909090GRCh37Chr 19, 10904508: 10904508
4DNM2NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp)single nucleotide variantPathogenicrs121909091GRCh37Chr 19, 10909219: 10909219
5DNM2NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys)single nucleotide variantPathogenicrs121909092GRCh37Chr 19, 10904505: 10904505
6BIN1NM_139343.2(BIN1): c.105G> T (p.Lys35Asn)single nucleotide variantPathogenicrs121909273GRCh37Chr 2, 127834262: 127834262
7BIN1NM_139343.2(BIN1): c.451G> A (p.Asp151Asn)single nucleotide variantPathogenicrs121909274GRCh37Chr 2, 127826568: 127826568
8BIN1NM_139343.2(BIN1): c.1723A> T (p.Lys575Ter)single nucleotide variantPathogenicrs121909275GRCh37Chr 2, 127806161: 127806161
9BIN1NM_139343.2(BIN1): c.461G> A (p.Arg154Gln)single nucleotide variantPathogenicrs267606681GRCh37Chr 2, 127826558: 127826558

Expression for genes affiliated with Myopathy, Centronuclear

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Search GEO for disease gene expression data for Myopathy, Centronuclear.

Pathways for genes affiliated with Myopathy, Centronuclear

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Pathways related to Myopathy, Centronuclear according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7BIN1, DNM2
2
Show member pathways
Development Beta adrenergic receptors regulation of ERK58
G protein signaling G Protein alpha s signaling cascades58
G protein signaling G Protein beta gamma signaling cascades58
9.7RYR1, DNM2
39.7MTMR14, RYR1
4
Show member pathways
9.6MTMR14, MTM1
5
Show member pathways
D-myo-inositol-5-phosphate metabolism36
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism36
D-myo-inositol (1,4,5)-trisphosphate degradation36
superpathway of inositol phosphate compounds36
1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3)36
D-myo-inositol (1,4,5)-trisphosphate biosynthesis36
myo-inositol biosynthesis36
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)36
D-myo-inositol (1,3,4)-trisphosphate biosynthesis36
9.6MTMR14, MTM1

Compounds for genes affiliated with Myopathy, Centronuclear

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Compounds related to Myopathy, Centronuclear according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1ryanodine43 28 5911.4RYR1, TTN
2Phosphate249.4DNM2, MTMR14, MTM1
3acetylcholine43 49 28 24 1213.2RYR1, MYF6, TTN
4pip2439.2RYR1, TTN
5proline439.2TTN, DNM2, RYR1
6creatinine439.1RYR1, MYF6, TTN

GO Terms for genes affiliated with Myopathy, Centronuclear

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Cellular components related to Myopathy, Centronuclear according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ruffleGO:00017269.6MTMR14, MTM1
2sarcoplasmic reticulumGO:00165298.9RYR1, CCDC78
3I bandGO:00316748.9RYR1, MTM1, TTN

Biological processes related to Myopathy, Centronuclear according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle cell differentiationGO:00426929.6BIN1, MYF6
2muscle contractionGO:00069369.5RYR1, TTN
3phosphatidylinositol biosynthetic processGO:00066619.3MTMR14, MTM1

Molecular functions related to Myopathy, Centronuclear according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine phosphatase activityGO:00047259.6MTMR14, MTM1
2phosphatidylinositol-3-phosphatase activityGO:00044389.5MTMR14, MTM1
3protease bindingGO:00020209.2RYR1, TTN

Products for genes affiliated with Myopathy, Centronuclear

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Sources for Myopathy, Centronuclear

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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