MCID: CNT004
MIFTS: 65

Centronuclear Myopathy malady

Neuronal diseases category

Summaries for Centronuclear Myopathy

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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.

MalaCards: Centronuclear Myopathy, also known as myotubular myopathy, is related to myopathy and centronuclear myopathy 1. An important gene associated with Centronuclear Myopathy is DNM2 (dynamin 2), and among its related pathways are Synthesis of PIPs at the early endosome membrane and PI Metabolism. The compounds alpha-bungarotoxin and ptdins(3)p have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related mouse phenotypes are cardiovascular system and behavior/neurological.

Wikipedia:63 Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally... more...

Description from OMIM:46 160150,614408,255200

Aliases & Classifications for Centronuclear Myopathy

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 9diseasecard, 46OMIM, 22GTR, 48Orphanet, 34MeSH, 56SNOMED-CT, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
autosomal dominant centronuclear myopathy:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

centronuclear myopathy 8 42 21 10 44 60
myotubular myopathy 8 42 21
autosomal recessive centronuclear myopathy 21 60
myopathy, centronuclear 9 46
myopathy, myotubular 42 22
myopathy, centronuclear, autosomal recessive 46
autosomal dominant centronuclear myopathy 48
autosomal dominant myotubular myopathy 21
myotubular myopathy 1 21
ad-cnm 48


External Ids:

Disease Ontology8 DOID:14717
MeSH34 D020914
SNOMED-CT56 82077006, 193223007
ICD10 via Orphanet26 G71.2

Related Diseases for Centronuclear Myopathy

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Centronuclear Myopathy family:

Centronuclear Myopathy 2 Centronuclear Myopathy 1
Centronuclear Myopathy 3 Centronuclear Myopathy 4

Diseases related to Centronuclear Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.8TTN, RYR1, SBF2, SBF1, DNM2, NCAM1
2centronuclear myopathy 130.5MTMR14, DNM2
3neuropathy30.5CAV3, DMD, MTM1, MTMR2, DNM2, SBF2
4charcot-marie-tooth disease30.2MTM1, MTMR2, DNM2, SBF2, PLEK
5central core myopathy30.2RYR1, DES
6nemaline myopathy30.2RYR1, DES
7myotonic dystrophy30.2RYR1, MTM1, DMD
8dilated cardiomyopathy30.2DMD, DES, RYR1, TTN
9x-linked centronuclear myopathy10.6
10centronuclear myopathy, autosomal, modifier of10.5
11centronuclear myopathy 410.4
12peliosis hepatis10.4
13hepatitis a10.4
14hepatitis10.4
15centronuclear myopathy 310.4
16cataract10.3
17neutropenia10.3
18peripheral neuropathy10.3
19centronuclear myopathy 210.3
20casp10-related autoimmune lymphoproliferative syndrome10.3
21intrahepatic cholestasis10.1
22muscular atrophy10.1
23cholestasis10.1
24congenital structural myopathy10.1
25spinal muscular atrophy10.1
26tooth disease10.1
27congestive heart failure10.1
28multiple sclerosis10.1
29congenital fiber-type disproportion10.1
30myofibrillar myopathy10.0DES
31dystrophinopathies10.0DMD
32noonan syndrome10.0ACP1
33charcot-marie-tooth neuropathy type 410.0SBF2, MTMR2
34rippling muscle disease10.0CAV3
35rhabdoid tumor10.0DES
36bubonic plague10.0CDKN3, ACP1
37glaucoma10.0SBF2, MTMR2
38thymoma10.0RYR1, TTN
39hypertrophic cardiomyopathy10.0TTN
40sarcoma10.0DES, ACP1
41emery-dreifuss muscular dystrophy10.0NCAM1, DMD
42myasthenia gravis10.0DMD, RYR1, TTN
43limb-girdle muscular dystrophy, type 2g10.0TTN, DMD
44charcot-marie-tooth disease type 4b110.0MTM1, MTMR2, CDKN3, SBF2
45polymyositis10.0TTN, NCAM1, DMD
46limb-girdle muscular dystrophy, type 2b10.0CAV3, DMD, TTN
47limb-girdle muscular dystrophy, type 1a10.0TTN, CAV3
48calpainopathy10.0CAV3, DMD, TTN
49neuroblastoma10.0NCAM1
50limb-girdle muscular dystrophy10.0TTN, DMD, CAV3

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



Diseases related to centronuclear myopathy

Clinical Features for Centronuclear Myopathy

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46OMIM
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Clinical features from OMIM:

160150,614408,255200

Clinical synopsis from OMIM:

255200

Drugs & Therapeutics for Centronuclear Myopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Centronuclear Myopathy

Drug clinical trials:

Search ClinicalTrials for Centronuclear Myopathy

Search NIH Clinical Center for Centronuclear Myopathy

Search CenterWatch for Centronuclear Myopathy

Genetic Tests for Centronuclear Myopathy

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22GTR
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Genetic tests related to Centronuclear Myopathy:

id Genetic test Affiliating Genes
1 Myotubular Myopathy22

Anatomical Context for Centronuclear Myopathy

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32MalaCards
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MalaCards organs/tissues related to Centronuclear Myopathy:

32
Skeletal muscle, Heart, Testes

Animal Models for Centronuclear Myopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Centronuclear Myopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.4DMD, MTM1, MTMR14, DES, RYR1, BIN1
2MP:00053869.3MTMR14, MTMR2, MTM1, DMD, DES, NCAM1
3MP:00053699.1SRPK3, CAV3, DMD, MTM1, MTMR14, DES
4MP:00053769.1MTMR14, MTM1, DMD, CAV3, DES, MYF6
5MP:00053849.1NCAM1, MTM1, DMD, CAV3, DNM2, RYR1
6MP:00053789.0NCAM1, MTMR2, MTM1, DMD, MYF6, DNM2
7MP:00107688.8DES, MTMR2, MTM1, DMD, NCAM1, MYF6

Publications for Centronuclear Myopathy

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Sources:
50PubMed
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Articles related to Centronuclear Myopathy:

(show top 50)    (show all 146)
idTitleAuthorsYear
1
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. (23975875)
2013
2
Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation. (22924779)
2013
3
A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice. (22369075)
2012
4
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. (23071563)
2012
5
Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. (21514436)
2011
6
Dilated cardiomyopathy with centronuclear myopathy in a young male. (21658785)
2011
7
Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. (22096584)
2011
8
Mice lacking microRNA 133a develop dynamin 2a89dependent centronuclear myopathy. (21737882)
2011
9
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation. (21129173)
2010
10
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. (19932619)
2010
11
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. (20817456)
2010
12
Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation. (20476667)
2009
13
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. (19084976)
2009
14
Genetic testing for all forms of myotubular/centronuclear myopathy. (18402390)
2008
15
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. (17932957)
2007
16
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. (17676042)
2007
17
An atypical presentation of sporadic adult-onset centronuclear myopathy. (17290936)
2007
18
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. (17825552)
2007
19
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. (17376685)
2007
20
Mutations in dynamin 2 cause dominant centronuclear myopathy. (16227997)
2005
21
X-linked centronuclear myopathy. (12874727)
2003
22
Centronuclear myopathy. Histopathological aspects in ten patients with childhood onset. (9686113)
1998
23
Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset. (9667782)
1998
24
Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies. (7935525)
1994
25
Report on the 20th ENMC sponsored international workshop: myotubular/centronuclear myopathy. (8173354)
1994
26
Postnatal centralization of muscle fibre nuclei in centronuclear myopathy. (1822797)
1991
27
Severe neonatal asphyxia due to X-linked centronuclear myopathy. (2279510)
1990
28
Adult-onset centronuclear myopathy: evidence against a neurogenic pathology. (2816279)
1989
29
Problems in genetic counseling in a family with an "atypical" centronuclear myopathy. (2729361)
1989
30
X-linked centronuclear myopathy as a cause of floppy baby. (3817270)
1987
31
Centronuclear myopathy in black African children--report of 4 cases. (3696389)
1987
32
Centronuclear myopathy with unusual clinical picture. (3569369)
1987
33
Familial X-linked centronuclear myopathy. (3804673)
1986
34
Centronuclear myopathy, cataract, and electrical myotonia: a new case. (4079961)
1985
35
Centronuclear myopathy with unusual mitochondrial abnormalities. (2983917)
1985
36
Centronuclear myopathy with special consideration of the adult form. (6542524)
1984
37
Perinatal diagnosis of myotubular (centronuclear) myopathy: a case report. (6851300)
1983
38
Infantile centronuclear myopathy. Evidence suggesting incomplete innervation. (6875615)
1983
39
Myopathy with pathological features of both centronuclear myopathy and multicore disease. (7161626)
1982
40
Type I fiber atrophy and internal nuclei. A form of centronuclear myopathy? (6213218)
1982
41
Centronuclear myopathy: extraocular- and limb-muscle findings in an adult. (6445039)
1980
42
Centronuclear myopathy with type I fibre hypotrophy and "fingerprint" inclusions associated with Marfan's syndrome. (6244371)
1980
43
Crural hypertrophy associated with centronuclear myopathy. (157387)
1979
44
Histochemical and ultrastructural findings in a case of centronuclear myopathy. (154406)
1978
45
Familial centronuclear myopathy associated with 'cardiomyopathy'. (131568)
1976
46
Neuropathy in myotubular or centronuclear myopathy. (1147795)
1975
47
Centronuclear myopathy: a light and electron microscopic study and a review of the literature. (4741006)
1973
48
Centronuclear myopathy: disease entity or a syndrome? Light- and electron-microscopic study of two cases and review of the literature. (5037445)
1972
49
Centronuclear myopathy with type I fiber atrophy and "myotubes". (4246348)
1970
50
Centronuclear myopathy. (5711397)
1968

Genetic Variations for Centronuclear Myopathy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Centronuclear Myopathy:

62 (show all 21)
id Symbol AA change Variation ID SNP ID
1BIN1p.Lys35AsnVAR_037425
2BIN1p.Asp151AsnVAR_037426
3DNM2p.Glu368LysVAR_031962
4DNM2p.Arg369GlnVAR_031963
5DNM2p.Arg369TrpVAR_031964
6DNM2p.Arg465TrpVAR_031965
7DNM2p.Ala618ThrVAR_039041
8DNM2p.Ser619LeuVAR_039042
9DNM2p.Ser619TrpVAR_039043
10DNM2p.Glu650LysVAR_062576
11DNM2p.Glu368GlnVAR_068365
12DNM2p.Arg522CysVAR_068366
13DNM2p.Arg522HisVAR_068367
14DNM2p.Arg523GlyVAR_068368
15DNM2p.Glu560LysVAR_068369
16DNM2p.Ala618AspVAR_068370
17DNM2p.Leu621ProVAR_068371
18DNM2p.Pro627HisVAR_068372
19DNM2p.Pro627ArgVAR_068373
20MTMR14p.Arg336GlnVAR_033370rs121434509
21MTMR14p.Tyr462CysVAR_033371rs121434510

Expression for genes affiliated with Centronuclear Myopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Centronuclear Myopathy

Search GEO for disease gene expression data for Centronuclear Myopathy.

Pathways for genes affiliated with Centronuclear Myopathy

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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Centronuclear Myopathy

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 28IUPHAR, 24HMDB, 49PharmGKB
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Compounds related to Centronuclear Myopathy according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1alpha-bungarotoxin44 5911.4DES, DMD
2ptdins(3)p4410.4PLEK, CDKN3, MTM1
3sodium stibogluconate44 1111.4ACP1, CDKN3
4ryanodine44 28 5912.4DES, RYR1, TTN
5hematoxylin4410.3DMD, DES, NCAM1
6sodium orthovanadate44 5911.3CDKN3, ACP1, PTP4A2
7pip24410.3RYR1, TTN, PLEK
8phenylarsine oxide4410.3CDKN3, ACP1, PTP4A2
9phosphatidylinositol 3-phosphate4410.3MTM1, MTMR2, CDKN3, PLEK
10gold4410.3TTN, NCAM1, DES, DMD
11phosphoserine44 2411.3CDKN3, ACP1, PTP4A2
12isoproterenol44 1111.2CAV3, DMD, RYR1, ACP1
13inositol4410.2CDKN3, RYR1, PLEK, ACP1
14ganciclovir44 1111.2CDKN3, ACP1, PTP4A2
15n-ethylmaleimide44 1111.2CDKN3, RYR1, ACP1
16gaba4410.2ACP1, RYR1, CDKN3, NCAM1
17suramin44 28 1112.1NCAM1, RYR1, ACP1
18vanadate4410.1PTP4A2, ACP1, CDKN3
19glycogen44 2411.1CAV3, DMD, DES, CDKN3, TTN
20nmda44 2811.1NCAM1, CDKN3, RYR1, ACP1, PTP4A2
21proline4410.1DMD, DES, DNM2, RYR1, TTN, PLEK
22phosphotyrosine4410.0MTM1, CDKN3, PLEK, ACP1, PTP4A2
23heparin44 28 11 2413.0DMD, DES, NCAM1, RYR1, ACP1
24norepinephrine44 11 2412.0ACP1, PLEK, RYR1, DES
25p-nitrophenyl phosphate4410.0ACP1, CDKN3
26biotin44 11 2412.0DMD, DES, CDKN3
27phosphoinositide4410.0MTM1, MTMR2, DNM2, CDKN3, PLEK, ACP1
28creatinine449.9CAV3, DMD, DES, NCAM1, MYF6, RYR1
29potassium44 11 2411.9TTN, RYR1, NCAM1, DMD
30nitric oxide44 11 2411.9CAV3, DMD, DES, NCAM1, DNM2, RYR1
31rapamycin449.9ACP1, PLEK, RYR1, CDKN3
32glutamate449.9NCAM1, CDKN3, RYR1, TTN, PLEK, ACP1
33adenylate449.9DMD, DES, CDKN3, PLEK, ACP1
34alanine449.9DMD, NCAM1, CDKN3, RYR1, PLEK, ACP1
35lipid449.8CAV3, DMD, MTM1, NCAM1, DNM2, RYR1
36threonine449.8DES, NCAM1, CDKN3, TTN, PLEK, ACP1
37acetylcholine44 49 28 11 2413.7ACP1, DMD, DES, NCAM1, MYF6, CDKN3
38phosphatidylinositol449.7CAV3, MTM1, MTMR2, NCAM1, DNM2, CDKN3
39serine449.6DMD, DES, NCAM1, CDKN3, RYR1, TTN
40doxorubicin44 49 1111.6DES, NCAM1, RYR1, ACP1
41cysteine449.5DMD, DES, NCAM1, CDKN3, RYR1, TTN
42calcium44 49 11 2412.5CAV3, DMD, DES, NCAM1, CDKN3, RYR1
43tyrosine449.4DMD, MTM1, MTMR2, DES, NCAM1, DNM2

GO Terms for genes affiliated with Centronuclear Myopathy

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16Gene Ontology
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Cellular components related to Centronuclear Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:01601010.2CAV3, DMD
2I bandGO:03167410.2MTM1, RYR1, TTN
3sarcolemmaGO:0423839.9DMD, DES, CAV3
4vacuolar membraneGO:0057749.9MTMR2, SBF2
5Z discGO:0300189.9CAV3, TTN, DES, DMD

Biological processes related to Centronuclear Myopathy according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1nucleus localizationGO:05164710.3CAV3, DMD
2regulation of skeletal muscle contractionGO:01481910.3CAV3, DMD
3muscle cell cellular homeostasisGO:04671610.2CAV3, DMD, MTM1
4phosphatidylinositol biosynthetic processGO:00666110.2MTMR14, MTM1, MTMR2
5muscle filament slidingGO:03004910.2DES, DMD, TTN
6endocytosisGO:00689710.1BIN1, CAV3, DNM2
7muscle contractionGO:00693610.1DES, RYR1, TTN
8protein dephosphorylationGO:00647010.0MTMR2, MTM1, SBF1
9phosphatidylinositol dephosphorylationGO:0468569.9MTMR2, MTM1

Molecular functions related to Centronuclear Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nitric-oxide synthase bindingGO:05099810.2DMD, CAV3
2protein tyrosine phosphatase activityGO:00472510.0CDKN3, MTMR14, MTMR2, MTM1
3phosphatidylinositol-3-phosphatase activityGO:0044389.9MTMR14, MTM1
4protein tyrosine/serine/threonine phosphatase activityGO:0081389.9CDKN3, MTMR2, SBF1
5protein bindingGO:0055158.4SBF2, DNM2, DES, MTMR2, MTM1, DMD

Products for genes affiliated with Centronuclear Myopathy

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Sources for Centronuclear Myopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet