MCID: CNT004
MIFTS: 63

Centronuclear Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Centronuclear Myopathy

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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 based summary: Centronuclear Myopathy, also known as myotubular myopathy, is related to centronuclear myopathy 1 and nemaline myopathy, and has symptoms including An important gene associated with Centronuclear Myopathy is DNM2 (dynamin 2), and among its related pathways are Arf6 trafficking events and PI Metabolism. The compounds phosphatidylinositol 3-phosphate and alpha-bungarotoxin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related mouse phenotypes are skeleton and normal.

Wikipedia:65 Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally... more...

Descriptions from OMIM:46 160150,614408,255200

Aliases & Classifications for Centronuclear Myopathy

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 62UMLS, 9diseasecard, 46OMIM, 22GTR, 48Orphanet, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet
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Centronuclear Myopathy, Aliases & Descriptions:

Name: Centronuclear Myopathy 8 42 21 10 44 62
Myotubular Myopathy 8 42 21
Autosomal Recessive Centronuclear Myopathy 21 62
Myopathy, Centronuclear 9 46
Myopathy, Myotubular 42 22
Myopathy, Centronuclear, Autosomal Recessive 46
 
Myopathy, Centronuclear, Autosomal Dominant 62
Autosomal Dominant Centronuclear Myopathy 48
Myotubular Myopathy, Autosomal Dominant 62
Autosomal Dominant Myotubular Myopathy 21
Myotubular Myopathy 1 21
Ad-Cnm 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:14717
MeSH34 D020914
SNOMED-CT57 82077006, 193223007
ICD10 via Orphanet26 G71.2

Related Diseases for Centronuclear Myopathy

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Diseases in the Centronuclear Myopathy family:

Centronuclear Myopathy 2 Centronuclear Myopathy 1
Centronuclear Myopathy 3 Centronuclear Myopathy 4
Centronuclear Myopathy 5

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1centronuclear myopathy 131.2DNM2, MTMR14
2nemaline myopathy30.6RYR1, DES
3myotonic dystrophy30.4RYR1, DMD, MTM1
4dilated cardiomyopathy30.1DES, RYR1, TTN, DMD
5charcot-marie-tooth disease30.1SBF2, DNM2, MTMR2, MTM1
6myopathy29.8DNM2, DES, DMD, TTN, MTM1, MTMR2
7neuropathy29.4DMD, MTMR2, MTM1, RYR1, SBF2, DNM2
8x-linked centronuclear myopathy10.8
9centronuclear myopathy, autosomal, modifier of10.6
10centronuclear myopathy 410.5
11myotonia10.5
12hepatitis10.4
13peliosis hepatis10.4
14centronuclear myopathy 310.4
15centronuclear myopathy 510.4
16rigid spine syndrome10.4DMD
17dystrophinopathies10.3DMD
18cataract10.3
19neutropenia10.3
20centronuclear myopathy 210.3
21pyloric stenosis10.3NCAM1
22central core myopathy10.2RYR1, DES
23spinal muscular atrophy10.2
24intrahepatic cholestasis10.2
25muscular atrophy10.2
26cholestasis10.2
27tooth disease10.2
28congestive heart failure10.2
29multiple sclerosis10.2
30malignant hyperthermia10.2
31peripheral neuropathy10.2
32congenital fiber-type disproportion10.2
33vacuolar myopathy10.2
34casp10-related autoimmune lymphoproliferative syndrome10.2
35mental retardation10.2
36sensory peripheral neuropathy10.2MTM1, MTMR2
37emery-dreifuss muscular dystrophy10.1NCAM1, DMD
38charcot-marie-tooth neuropathy type 410.1MTMR2, SBF2
39becker muscular dystrophy10.1DMD, NCAM1
40limb-girdle muscular dystrophy, type 2g10.1TTN, DMD
41embryonal rhabdomyosarcoma10.1DES, NCAM1
42limb-girdle muscular dystrophy type 2f10.1DMD, TTN
43limb-girdle muscular dystrophy, type 2b10.1TTN, DMD
44chordoma10.1NCAM1, DES
45calpainopathy10.0TTN, DMD
46limb-girdle muscular dystrophy10.0DMD, TTN
47thymoma10.0RYR1, TTN
48charcot-marie-tooth disease type 4b110.0MTMR2, MTM1, SBF2
49respiratory failure10.0RYR1, TTN
50myasthenia gravis9.9TTN, RYR1, DMD

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



Diseases related to centronuclear myopathy

Symptoms for Centronuclear Myopathy

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Symptoms by clinical synopsis from OMIM:

255200

Clinical features from OMIM:

160150,614408,255200

HPO human phenotypes related to Centronuclear Myopathy:

(show all 41)
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 high palate rare (5%) HP:0000218
14 long face rare (5%) HP:0000276
15 intellectual disability, mild rare (5%) HP:0001256
16 pes cavus rare (5%) HP:0001761
17 talipes equinovarus rare (5%) HP:0001762
18 respiratory insufficiency due to muscle weakness rare (5%) HP:0002747
19 scapular winging rare (5%) HP:0003691
20 autosomal recessive inheritance HP:0000007
21 ptosis HP:0000508
22 ophthalmoplegia HP:0000602
23 dysarthria HP:0001260
24 motor delay HP:0001270
25 areflexia HP:0001284
26 neonatal hypotonia HP:0001319
27 flexion contracture HP:0001371
28 dysphonia HP:0001618
29 distal muscle weakness HP:0002460
30 waddling gait HP:0002515
31 scoliosis HP:0002650
32 kyphosis HP:0002808
33 hyperlordosis HP:0003307
34 axial muscle weakness HP:0003327
35 gowers sign HP:0003391
36 emg HP:0003458
37 onset HP:0003674
38 centrally nucleated skeletal muscle fibers HP:0003687
39 generalized amyotrophy HP:0003700
40 feeding difficulties in infancy HP:0008872
41 facial palsy HP:0010628

Drugs & Therapeutics for Centronuclear Myopathy

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Drug clinical trials:

Search ClinicalTrials for Centronuclear Myopathy

Search NIH Clinical Center for Centronuclear Myopathy

Genetic Tests for Centronuclear Myopathy

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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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MalaCards organs/tissues related to Centronuclear Myopathy:

32
Skeletal muscle, Heart, Testes

Animal Models for Centronuclear Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Centronuclear Myopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.1DMD, TTN, MYF6, MTM1, RYR1
2MP:00028738.0DMD, TTN, MYF6, MTM1, MTMR2, DNM2
3MP:00053898.0SBF1, SBF2, MTMR2, MTM1, DMD
4MP:00053857.8DES, DMD, TTN, MTM1, MTMR14, BIN1
5MP:00053847.5DMD, TTN, MTM1, DNM2, BIN1, NCAM1
6MP:00053697.3RYR1, DES, DMD, TTN, MYF6, MTM1
7MP:00053787.3DMD, TTN, MYF6, MTM1, MTMR2, DNM2
8MP:00053767.1DES, DMD, TTN, MYF6, MTM1, MTMR14
9MP:00107686.3MYF6, TTN, DMD, DES, MTM1, MTMR2
10MP:00053866.1DES, DMD, TTN, MTM1, MTMR14, MTMR2

Publications for Centronuclear Myopathy

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Articles related to Centronuclear Myopathy:

(show top 50)    (show all 153)
idTitleAuthorsYear
1
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. (25087613)
2014
2
Contraction versus contracture and centronuclear myopathy versus central part myopathy in malignant hyperthermia. (24794461)
2014
3
Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? (23975873)
2013
4
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. (23754947)
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
Expanding the clinical, pathological and MRI phenotype of DNM2- related centronuclear myopathy. (20227276)
2010
9
Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). (19483656)
2009
10
Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation. (20476667)
2009
11
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. (19084976)
2009
12
Genetic testing for all forms of myotubular/centronuclear myopathy. (18402390)
2008
13
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. (17932957)
2007
14
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. (17676042)
2007
15
An atypical presentation of sporadic adult-onset centronuclear myopathy. (17290936)
2007
16
Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy]. (18154705)
2007
17
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. (16585051)
2006
18
Mutations in dynamin 2 cause dominant centronuclear myopathy]. (16457739)
2006
19
X-linked myotubular and centronuclear myopathies. (16042307)
2005
20
The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2. (12884002)
2003
21
Centronuclear myopathy and cardiomyopathy requiring heart transplant. (12536036)
2003
22
Centronuclear myopathy--morphological relation to developing human skeletal muscle: a clinicopathological evaluation. (10751809)
2000
23
Temporomandibular joint involvement in a patient with centronuclear myopathy. (10884647)
2000
24
Anaesthesia in myotubular (centronuclear) myopathy. (10792141)
2000
25
Centronuclear myopathy. Histopathological aspects in ten patients with childhood onset. (9686113)
1998
26
Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset. (9667782)
1998
27
Autosomal dominant centronuclear myopathy: report of a new family with clinical features simulating facioscapulohumeral syndrome. (9270681)
1997
28
Congenital myopathy with ringlike distribution of myonuclei and mitochondria and accumulation of nemaline rods. A variant of centronuclear myopathy? (7546014)
1995
29
Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies. (7935525)
1994
30
Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy. (7931426)
1994
31
Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathies. (1517767)
1992
32
Muscular pseudohypertrophy in an adult case with centronuclear myopathy. (2044633)
1991
33
Postnatal centralization of muscle fibre nuclei in centronuclear myopathy. (1822797)
1991
34
Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns. (1824643)
1991
35
Muscle histochemistry in myotubular (centronuclear) myopathy. (2466417)
1989
36
Adult-onset centronuclear myopathy: evidence against a neurogenic pathology. (2816279)
1989
37
X-linked centronuclear myopathy as a cause of floppy baby. (3817270)
1987
38
Severe neonatal centronuclear myopathy with autosomal dominant inheritance. (2994607)
1985
39
Centronuclear myopathy. (3832049)
1985
40
Centronuclear myopathy, cataract, and electrical myotonia: a new case. (4079961)
1985
41
Perinatal diagnosis of myotubular (centronuclear) myopathy: a case report. (6851300)
1983
42
Centronuclear myopathy: follow-up study of a case reported as an early onset myopathy (1966): muscle biopsies in parents and sibs. (7468147)
1980
43
Centronuclear myopathy. (469562)
1979
44
Crural hypertrophy associated with centronuclear myopathy. (157387)
1979
45
Familial centronuclear myopathy: a haploid DNA disease? (463498)
1979
46
Centronuclear myopathy in the newborn period causing severe respiratory distress. (840536)
1977
47
Familial centronuclear myopathy associated with 'cardiomyopathy'. (131568)
1976
48
Centronuclear myopathy: a light and electron microscopic study and a review of the literature. (4741006)
1973
49
Centronuclear myopathy with autosomal dominant inheritance. (5016690)
1972
50
Centronuclear myopathy. (5711397)
1968

Variations for Centronuclear Myopathy

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

64 (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

Clinvar genetic disease variations for Centronuclear Myopathy:

6
id Gene Name 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 Centronuclear Myopathy

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Expression patterns in normal tissues for genes affiliated with Centronuclear Myopathy

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Pathways for genes affiliated with Centronuclear Myopathy

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Compounds for genes affiliated with Centronuclear Myopathy

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Compounds related to Centronuclear Myopathy according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1phosphatidylinositol 3-phosphate449.9MTM1, MTMR2
2alpha-bungarotoxin44 28 6111.8DMD, DES
3Phosphate249.5DNM2, MTMR14, MTM1
4ryanodine44 28 6111.4RYR1, TTN, DES
5hematoxylin449.3DES, DMD, NCAM1
6bromodeoxyuridine449.2DES, DMD, NCAM1
7phosphatidylinositol449.0MTM1, MTMR2, DNM2, NCAM1
8polyacrylamide449.0TTN, DMD, DES
9doxorubicin44 50 1110.9DES, NCAM1, RYR1
10glycogen44 249.9TTN, DMD, DES
11heparin44 28 24 1111.9RYR1, NCAM1, DMD, DES
12potassium44 24 1110.8DMD, TTN, NCAM1, RYR1
13nitric oxide44 24 1110.7DES, DMD, DNM2, NCAM1, RYR1
14lipid448.7DMD, MTM1, DNM2, NCAM1, RYR1
15gold448.7NCAM1, TTN, DMD, DES
16proline448.6DES, DMD, TTN, DNM2, RYR1
17cysteine448.3RYR1, NCAM1, TTN, DMD, DES
18tyrosine448.2DES, DMD, MTM1, MTMR2, DNM2, NCAM1
19acetylcholine44 50 28 24 1112.1RYR1, NCAM1, MYF6, TTN, DMD, DES
20creatinine448.1DES, DMD, TTN, MYF6, NCAM1, RYR1
21serine448.0DES, DMD, TTN, NCAM1, RYR1

GO Terms for genes affiliated with Centronuclear Myopathy

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Cellular components related to Centronuclear Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1filopodiumGO:0301759.6MTM1, DMD
2I bandGO:0316749.3TTN, MTM1, RYR1
3vacuolar membraneGO:0057749.1MTMR2, SBF2
4cytosolGO:0058297.6DES, DMD, TTN, MTM1, MTMR14, MTMR2
5cytoplasmGO:0057377.4NCAM1, BIN1, DNM2, MTMR2, MTM1, TTN

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol dephosphorylationGO:0468569.8MTM1, MTMR2
2muscle cell differentiationGO:0426929.6MYF6, BIN1
3phosphatidylinositol biosynthetic processGO:0066619.6MTM1, MTMR14, MTMR2
4protein dephosphorylationGO:0064709.5SBF1, MTM1, MTMR2
5phospholipid metabolic processGO:0066449.5MTM1, MTMR2, MTMR14
6cardiac muscle contractionGO:0600489.3TTN, DMD
7regulation of Rab GTPase activityGO:0323139.3SBF2, SBF1
8muscle contractionGO:0069369.3TTN, DES, RYR1
9protein tetramerizationGO:0512629.1MTMR2, SBF2
10muscle filament slidingGO:0300499.1TTN, DES, DMD

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3-phosphatase activityGO:00443810.0MTMR14, MTM1
2protein tyrosine phosphatase activityGO:0047259.5MTMR2, MTMR14, MTM1
3protein tyrosine/serine/threonine phosphatase activityGO:0081389.4MTMR2, SBF1
4structural constituent of muscleGO:0083079.3TTN, DMD
5Rab guanyl-nucleotide exchange factor activityGO:0171129.2SBF1, SBF2
6identical protein bindingGO:0428028.6TTN, BIN1, NCAM1, DES
7protein bindingGO:0055156.5DES, DMD, TTN, MTM1, MTMR2, DNM2

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet