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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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
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. (23338057)
2013
2
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. (23754947)
2013
3
Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves. (23813975)
2013
4
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. (23818870)
2013
5
Centronuclear myopathy in a Border collie dog. (23013377)
2012
6
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. (20927630)
2011
7
Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. (21221624)
2011
8
Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia. (21482111)
2011
9
Expanding the clinical, pathological and MRI phenotype of DNM2- related centronuclear myopathy. (20227276)
2010
10
Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. (20142620)
2010
11
Centronuclear myopathies: a widening concept. (20181480)
2010
12
Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). (19483656)
2009
13
Mitochondrial alterations in dynamin 2-related centronuclear myopathy. (19330221)
2009
14
Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature. (19130742)
2008
15
Myotubular/centronuclear myopathy and central core disease. (18974559)
2008
16
MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement. (17134899)
2007
17
Autosomal dominant centronuclear myopathy with unique clinical presentations. (18162732)
2007
18
Mutations in dynamin 2 cause dominant centronuclear myopathy]. (16457739)
2006
19
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. (17008356)
2006
20
Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2. (16140986)
2005
21
A case of adult-onset centronuclear myopathy. (15119013)
2004
22
The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2. (12884002)
2003
23
Centronuclear myopathy and cardiomyopathy requiring heart transplant. (12536036)
2003
24
Centronuclear myopathy: subgroup characterized by tissue mosaicism. (10412542)
1999
25
Caveolin-3 and sarcoglycans in the vacuolar myopathies and centronuclear myopathy. (10417791)
1999
26
Centronuclear myopathy and nursing pattern caries: management of a 1 year old. (8634202)
1995
27
Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy. (7931426)
1994
28
Heterogeneity of centronuclear myopathy shown by flow cytometry of nuclear DNA. (8316338)
1993
29
X-Linked Centronuclear Myopathy (20301605)
1993
30
Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathies. (1517767)
1992
31
Muscular pseudohypertrophy in an adult case with centronuclear myopathy. (2044633)
1991
32
Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns. (1824643)
1991
33
Centronuclear myopathy: clinical, morphological and genetic characters. A review of 288 cases. (1865227)
1991
34
Centronuclear myopathy and type-1 hypotrophy without central nuclei. Distinct nosologic entities? (2310312)
1990
35
Muscle histochemistry in myotubular (centronuclear) myopathy. (2466417)
1989
36
Familial centronuclear myopathy: a clinical and pathological study. (3673497)
1987
37
Severe neonatal centronuclear myopathy with autosomal dominant inheritance. (2994607)
1985
38
Centronuclear myopathy. (3832049)
1985
39
Adult onset centronuclear myopathy with peripheral nerve involvement. (6186788)
1982
40
Cytopathology of an unusual case of centronuclear myopathy. Light- and electron-microscopic investigations. (6455504)
1981
41
Familial centronuclear myopathy. (7211157)
1980
42
Familial centronuclear myopathy: a haploid DNA disease? (463498)
1979
43
Neonatal respiratory insufficiency due to centronuclear myopathy. (525348)
1979
44
Myotonia in centronuclear myopathy. (153383)
1978
45
Centronuclear myopathy: clinical and pathologic features. Unlike early onset myotonic dystrophy, this condition is not associated with mental retardation or clinical or electric evidences of myotonia. (627121)
1978
46
Centronuclear myopathy: histochemistry and electron microscopy. Report of two cases. (163076)
1975
47
A case of centronuclear myopathy. (4126740)
1973
48
Centronuclear myopathy with autosomal dominant inheritance. (5016690)
1972
49
Familial centronuclear myopathy. (5478951)
1970
50
Myotubular, centronuclear or Peri-Centronuclear myopathy? (5807281)
1969

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, 29KEGG, 37NCBI BioSystems Database
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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:01601010.2DMD, CAV3
2I bandGO:03167410.2TTN, RYR1, MTM1
3sarcolemmaGO:0423839.9CAV3, DMD, DES
4vacuolar membraneGO:0057749.9SBF2, MTMR2
5Z discGO:0300189.9TTN, DES, DMD, CAV3

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:04671610.2MTM1, DMD, CAV3
4phosphatidylinositol biosynthetic processGO:00666110.2MTM1, MTMR2, MTMR14
5muscle filament slidingGO:03004910.2TTN, DES, DMD
6endocytosisGO:00689710.1BIN1, DNM2, CAV3
7muscle contractionGO:00693610.1TTN, RYR1, DES
8protein dephosphorylationGO:00647010.0MTM1, MTMR2, 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:0081389.9MTMR2, CDKN3, SBF1
5protein bindingGO:0055158.4DNM2, DES, MTMR2, MTM1, DMD, CAV3

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