Centronuclear Myopathy disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Centronuclear Myopathy

Sources:
²²Genetics Home Reference, ⁶⁴Wikipedia, ⁴⁶OMIM, ³²MalaCards
See all sources

Genetics Home Reference:²² 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 muscular hypotonia, gait disturbance and amyotrophy. 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:⁶⁴ 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

Sources:
⁹Disease Ontology, ⁴²NIH Rare Diseases, ²²Genetics Home Reference, ¹¹DISEASES, ⁴⁴Novoseek, ⁶¹UMLS, ¹⁰diseasecard, ⁴⁶OMIM, ²³GTR, ⁴⁸Orphanet, ⁵⁶SNOMED-CT, ³⁴MeSH, ²⁷ICD10 via Orphanet
See all sources

Centronuclear Myopathy, Aliases & Descriptions:

Name: Centronuclear Myopathy ⁹ ⁴² ²² ¹¹ ⁴⁴ ⁶¹

Myotubular Myopathy ⁹ ⁴² ²²

Autosomal Recessive Centronuclear Myopathy ²² ⁶¹

Myopathy, Centronuclear ¹⁰ ⁴⁶

Myopathy, Myotubular ⁴² ²³

Myopathy, Centronuclear, Autosomal Recessive ⁴⁶

Myopathy, Centronuclear, Autosomal Dominant ⁶¹

Autosomal Dominant Centronuclear Myopathy ⁴⁸

Myotubular Myopathy, Autosomal Dominant ⁶¹

Autosomal Dominant Myotubular Myopathy ²²

Myotubular Myopathy 1 ²²

Ad-Cnm ⁴⁸

Classifications:

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

ICD10: ²⁷

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁴⁸

Rare neurological diseases

Characteristics (Orphanet epidemiological data):

⁴⁸

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

External Ids:

Disease Ontology⁹ DOID:14717

MeSH³⁴ D020914

SNOMED-CT⁵⁶ 82077006, 193223007

OMIM⁴⁶ 160150, 614408

ICD10 via Orphanet²⁷ G71.2

UMLS⁶¹ C0175709

Related Diseases for Centronuclear Myopathy

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

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)

id	Related Disease	Score	Top Affiliating Genes
1	centronuclear myopathy 1	31.2	DNM2, MTMR14
2	nemaline myopathy	30.6	RYR1, DES
3	myotonic dystrophy	30.4	RYR1, DMD, MTM1
4	dilated cardiomyopathy	30.1	DES, RYR1, TTN, DMD
5	charcot-marie-tooth disease	30.1	SBF2, DNM2, MTMR2, MTM1
6	myopathy	29.8	DNM2, DES, DMD, TTN, MTM1, MTMR2
7	neuropathy	29.4	DMD, MTMR2, MTM1, RYR1, SBF2, DNM2
8	x-linked centronuclear myopathy	10.8
9	centronuclear myopathy, autosomal, modifier of	10.6
10	centronuclear myopathy 4	10.5
11	myotonia	10.5
12	hepatitis	10.4
13	peliosis hepatis	10.4
14	centronuclear myopathy 3	10.4
15	centronuclear myopathy 5	10.4
16	rigid spine syndrome	10.4	DMD
17	dystrophinopathies	10.3	DMD
18	cataract	10.3
19	neutropenia	10.3
20	centronuclear myopathy 2	10.3
21	pyloric stenosis	10.3	NCAM1
22	central core myopathy	10.2	RYR1, DES
23	spinal muscular atrophy	10.2
24	intrahepatic cholestasis	10.2
25	muscular atrophy	10.2
26	cholestasis	10.2
27	tooth disease	10.2
28	congestive heart failure	10.2
29	multiple sclerosis	10.2
30	malignant hyperthermia	10.2
31	peripheral neuropathy	10.2
32	congenital fiber-type disproportion	10.2
33	vacuolar myopathy	10.2
34	casp10-related autoimmune lymphoproliferative syndrome	10.2
35	mental retardation	10.2
36	sensory peripheral neuropathy	10.2	MTM1, MTMR2
37	emery-dreifuss muscular dystrophy	10.1	NCAM1, DMD
38	charcot-marie-tooth neuropathy type 4	10.1	MTMR2, SBF2
39	becker muscular dystrophy	10.1	DMD, NCAM1
40	limb-girdle muscular dystrophy, type 2g	10.1	TTN, DMD
41	embryonal rhabdomyosarcoma	10.1	DES, NCAM1
42	limb-girdle muscular dystrophy type 2f	10.1	DMD, TTN
43	limb-girdle muscular dystrophy, type 2b	10.1	TTN, DMD
44	chordoma	10.1	NCAM1, DES
45	calpainopathy	10.0	TTN, DMD
46	limb-girdle muscular dystrophy	10.0	DMD, TTN
47	thymoma	10.0	RYR1, TTN
48	charcot-marie-tooth disease type 4b1	10.0	MTMR2, MTM1, SBF2
49	respiratory failure	10.0	RYR1, TTN
50	myasthenia gravis	9.9	TTN, RYR1, DMD

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

Symptoms for Centronuclear Myopathy

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology
See all sources

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

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Centronuclear Myopathy

Search NIH Clinical Center for Centronuclear Myopathy

Genetic Tests for Centronuclear Myopathy

Sources:
²³GTR
See all sources

Genetic tests related to Centronuclear Myopathy:

id	Genetic test	Affiliating Genes
1	Myotubular Myopathy²³

Anatomical Context for Centronuclear Myopathy

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Centronuclear Myopathy:

³²

Skeletal muscle, Heart, Testes

Animal Models for Centronuclear Myopathy or affiliated genes

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Centronuclear Myopathy:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	skeleton phenotype	MP:0005390	8.1	DMD, TTN, MYF6, MTM1, RYR1
2	normal phenotype	MP:0002873	8.0	DMD, TTN, MYF6, MTM1, MTMR2, DNM2
3	reproductive system phenotype	MP:0005389	8.0	SBF1, SBF2, MTMR2, MTM1, DMD
4	cardiovascular system phenotype	MP:0005385	7.8	DES, DMD, TTN, MTM1, MTMR14, BIN1
5	cellular phenotype	MP:0005384	7.5	DMD, TTN, MTM1, DNM2, BIN1, NCAM1
6	muscle phenotype	MP:0005369	7.3	RYR1, DES, DMD, TTN, MYF6, MTM1
7	growth/size/body phenotype	MP:0005378	7.3	DMD, TTN, MYF6, MTM1, MTMR2, DNM2
8	homeostasis/metabolism phenotype	MP:0005376	7.1	DES, DMD, TTN, MYF6, MTM1, MTMR14
9	mortality/aging	MP:0010768	6.3	MYF6, TTN, DMD, DES, MTM1, MTMR2
10	behavior/neurological phenotype	MP:0005386	6.1	DES, DMD, TTN, MTM1, MTMR14, MTMR2

Publications for Centronuclear Myopathy

Sources:
⁵¹PubMed
See all sources

Articles related to Centronuclear Myopathy:

(show top 50) (show all 153)

id	Title	Authors	Year
1	SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. (25087613)	Agrawal P.B.... Beggs A.H.	2014
2	Contraction versus contracture and centronuclear myopathy versus central part myopathy in malignant hyperthermia. (24794461)	Da Silva H.C.... Do Amaral J.L.	2014
3	Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? (23975873)	Dowling J.J.	2013
4	Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. (23754947)	BAPhm J.... Laporte J.	2013
5	Centronuclear myopathy in a Border collie dog. (23013377)	Eminaga S.... Shelton G.D.	2012
6	Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. (20927630)	Toussaint A.... Laporte J.	2011
7	Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. (21221624)	Hanisch F.... Zierz S.	2011
8	Expanding the clinical, pathological and MRI phenotype of DNM2- related centronuclear myopathy. (20227276)	Susman R.D.... North K.N.	2010
9	Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). (19483656)	Watanabe H.... Machida J.	2009
10	Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation. (20476667)	Mejaddam A.Y.... Sejersen T.	2009
11	"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. (19084976)	Bevilacqua J.A.... Romero N.B.	2009
12	Genetic testing for all forms of myotubular/centronuclear myopathy. (18402390)	Foye P.M.	2008
13	Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. (17932957)	Bitoun M.... Guicheney P.	2007
14	Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. (17676042)	Nicot A.-S.... Laporte J.	2007
15	An atypical presentation of sporadic adult-onset centronuclear myopathy. (17290936)	Pistolesi S.... Fontanini G.	2007
16	Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy]. (18154705)	Toussaint A.... Laporte J.	2007
17	Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. (16585051)	Fischer D.... Romero N.B.	2006
18	Mutations in dynamin 2 cause dominant centronuclear myopathy]. (16457739)	Bitoun M.... Guicheney P.	2006
19	X-linked myotubular and centronuclear myopathies. (16042307)	Pierson C.R.... Beggs A.H.	2005
20	The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2. (12884002)	Tiret L.... Panthier J.J.	2003
21	Centronuclear myopathy and cardiomyopathy requiring heart transplant. (12536036)	Al-Ruwaishid A.... Jay V.	2003
22	Centronuclear myopathy--morphological relation to developing human skeletal muscle: a clinicopathological evaluation. (10751809)	Gayathri N.... Shankar S.K.	2000
23	Temporomandibular joint involvement in a patient with centronuclear myopathy. (10884647)	Zanoteli E.... Gabbai A.A.	2000
24	Anaesthesia in myotubular (centronuclear) myopathy. (10792141)	Breslin D.... Mirakhur R.K.	2000
25	Centronuclear myopathy. Histopathological aspects in ten patients with childhood onset. (9686113)	Zanoteli E.... Gabbai A.A.	1998
26	Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset. (9667782)	Zanoteli E.... Gabbai A.A.	1998
27	Autosomal dominant centronuclear myopathy: report of a new family with clinical features simulating facioscapulohumeral syndrome. (9270681)	Felice K.J.... Grunnet M.L.	1997
28	Congenital myopathy with ringlike distribution of myonuclei and mitochondria and accumulation of nemaline rods. A variant of centronuclear myopathy? (7546014)	Waclawik A.J.... Rust R.S.	1995
29	Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies. (7935525)	Mora M.... Daniel S.	1994
30	Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy. (7931426)	FidziaA8ska A.... Goebel H.H.	1994
31	Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathies. (1517767)	Figarella-Branger D.... Pellissier J.F.	1992
32	Muscular pseudohypertrophy in an adult case with centronuclear myopathy. (2044633)	Matsushita S.... Yanagisawa N.	1991
33	Postnatal centralization of muscle fibre nuclei in centronuclear myopathy. (1822797)	van der Ven P.F.... Sengers R.C.	1991
34	Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns. (1824643)	Sawchak J.A.... Shafiq S.A.	1991
35	Muscle histochemistry in myotubular (centronuclear) myopathy. (2466417)	Sasaki T.... Kumagai K.	1989
36	Adult-onset centronuclear myopathy: evidence against a neurogenic pathology. (2816279)	Baradello A.... Carrozza G.	1989
37	X-linked centronuclear myopathy as a cause of floppy baby. (3817270)	Donders G.... Van Assche F.A.	1987
38	Severe neonatal centronuclear myopathy with autosomal dominant inheritance. (2994607)	Torres C.F.... Goetz J.P.	1985
39	Centronuclear myopathy. (3832049)	Dugan G.... Yngve D.A.	1985
40	Centronuclear myopathy, cataract, and electrical myotonia: a new case. (4079961)	Vallat J.M.... Vallat M.	1985
41	Perinatal diagnosis of myotubular (centronuclear) myopathy: a case report. (6851300)	Collins J.E.... Weller R.O.	1983
42	Centronuclear myopathy: follow-up study of a case reported as an early onset myopathy (1966): muscle biopsies in parents and sibs. (7468147)	Mercelis R.... Ceuterick C.	1980
43	Centronuclear myopathy. (469562)	Bill P.L.... Proctor N.S.	1979
44	Crural hypertrophy associated with centronuclear myopathy. (157387)	Bill P.... Botes A.	1979
45	Familial centronuclear myopathy: a haploid DNA disease? (463498)	Zimmermann P.... Weber U.	1979
46	Centronuclear myopathy in the newborn period causing severe respiratory distress. (840536)	Raju T.N.... Chokroverty S.	1977
47	Familial centronuclear myopathy associated with 'cardiomyopathy'. (131568)	Verhiest W.... De Geest H.	1976
48	Centronuclear myopathy: a light and electron microscopic study and a review of the literature. (4741006)	Shirabe T.... Araki S.	1973
49	Centronuclear myopathy with autosomal dominant inheritance. (5016690)	McLeod J.G.... Shorey C.D.	1972
50	Centronuclear myopathy. (5711397)	Bethlem J.... Vroom J.J.	1968

Genes related to Centronuclear Myopathy

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁶OMIM, ⁷Clinvar, ⁴⁸Orphanet, ⁶³UniProtKB/Swiss-Prot
See all sources

Genes related to Centronuclear Myopathy:

(show all 13)

- Elite gene

id	Symbol	Description	Score	Implication
1	DNM2	dynamin 2	20.82	Molecular basis known ⁴⁶ Pathogenic ⁷ Causative germline mutation ⁴⁸ Causative variation ⁶³ GeneCards inferred via : Publications, Disorders (show sections)
2	BIN1	bridging integrator 1	19.26	Molecular basis known ⁴⁶ Pathogenic ⁷ Causative variation ⁶³ GeneCards inferred via : Publications, Disorders (show sections)
3	MYF6	myogenic factor 6 (herculin)	17.86	Pathogenic ⁷ Causative germline mutation ⁴⁸ GeneCards inferred via : Summaries (show sections)
4	MTMR14	myotubularin related protein 14	16.33	Causative germline mutation ⁴⁸ Causative variation ⁶³ GeneCards inferred via : Publications, Disorders, Summaries (show sections)
5	RYR1	ryanodine receptor 1 (skeletal)	14.64	Causative germline mutation ⁴⁸ GeneCards inferred via : Publications, Disorders (show sections)
6	MTM1	myotubularin 1	13.13	GeneCards inferred via : Publications, Disorders (show sections)
7	SBF1	SET binding factor 1	11.57	GeneCards inferred via : Disorders (show sections)
8	MTMR2	myotubularin related protein 2	10.03	GeneCards inferred via : Disorders (show sections)
9	DES	desmin	8.49	GeneCards inferred via : Disorders (show sections)
10	NCAM1	neural cell adhesion molecule 1	6.95	GeneCards inferred via : Publications, Disorders (show sections)
11	TTN	titin	5.41	GeneCards inferred via : Publications, Disorders (show sections)
12	SBF2	SET binding factor 2	3.87	GeneCards inferred via : Disorders (show sections)
13	DMD	dystrophin	2.34	GeneCards inferred via : Publications, Disorders (show sections)

Products for genes related to Centronuclear Myopathy disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	11	-	13	13
2	Novus Biologicals	11	9	13	-

Variations for Centronuclear Myopathy

Sources:
⁶³UniProtKB/Swiss-Prot, ⁷Clinvar, ⁸dbSNP
See all sources

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

⁶³ (show all 21)

id	Symbol	AA change	Variation ID	SNP ID
1	BIN1	p.Lys35Asn	VAR_037425
2	BIN1	p.Asp151Asn	VAR_037426
3	DNM2	p.Glu368Lys	VAR_031962
4	DNM2	p.Arg369Gln	VAR_031963
5	DNM2	p.Arg369Trp	VAR_031964
6	DNM2	p.Arg465Trp	VAR_031965
7	DNM2	p.Ala618Thr	VAR_039041
8	DNM2	p.Ser619Leu	VAR_039042
9	DNM2	p.Ser619Trp	VAR_039043
10	DNM2	p.Glu650Lys	VAR_062576
11	DNM2	p.Glu368Gln	VAR_068365
12	DNM2	p.Arg522Cys	VAR_068366
13	DNM2	p.Arg522His	VAR_068367
14	DNM2	p.Arg523Gly	VAR_068368
15	DNM2	p.Glu560Lys	VAR_068369
16	DNM2	p.Ala618Asp	VAR_068370
17	DNM2	p.Leu621Pro	VAR_068371
18	DNM2	p.Pro627His	VAR_068372
19	DNM2	p.Pro627Arg	VAR_068373
20	MTMR14	p.Arg336Gln	VAR_033370	rs121434509
21	MTMR14	p.Tyr462Cys	VAR_033371	rs121434510

Clinvar genetic disease variations for Centronuclear Myopathy:

⁷

id	Gene	Name	Type	Significance	SNP ID	Assembly	Location
1	MYF6	NM_002469.2(MYF6): c.334G> T (p.Ala112Ser)	single nucleotide variant	Pathogenic	rs28928909	GRCh37	Chr 12, 81101832: 81101832
2	DNM2	NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln)	single nucleotide variant	Pathogenic	rs121909089	GRCh37	Chr 19, 10904509: 10904509
3	DNM2	NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp)	single nucleotide variant	Pathogenic	rs121909090	GRCh37	Chr 19, 10904508: 10904508
4	DNM2	NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp)	single nucleotide variant	Pathogenic	rs121909091	GRCh37	Chr 19, 10909219: 10909219
5	DNM2	NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys)	single nucleotide variant	Pathogenic	rs121909092	GRCh37	Chr 19, 10904505: 10904505
6	BIN1	NM_139343.2(BIN1): c.105G> T (p.Lys35Asn)	single nucleotide variant	Pathogenic	rs121909273	GRCh37	Chr 2, 127834262: 127834262
7	BIN1	NM_139343.2(BIN1): c.451G> A (p.Asp151Asn)	single nucleotide variant	Pathogenic	rs121909274	GRCh37	Chr 2, 127826568: 127826568
8	BIN1	NM_139343.2(BIN1): c.1723A> T (p.Lys575Ter)	single nucleotide variant	Pathogenic	rs121909275	GRCh37	Chr 2, 127806161: 127806161
9	BIN1	NM_139343.2(BIN1): c.461G> A (p.Arg154Gln)	single nucleotide variant	Pathogenic	rs267606681	GRCh37	Chr 2, 127826558: 127826558

Expression for genes affiliated with Centronuclear Myopathy

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
See all sources

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

Sources:
⁴⁹PathCards, ³⁷NCBI BioSystems Database, ⁵⁴Reactome, ³⁰KEGG
See all sources

Pathways related to Centronuclear Myopathy according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Arf6 trafficking events³⁷	10.0	BIN1, DNM2
2	PI Metabolism⁵⁴ Show member pathways Synthesis of PIPs at the ER membrane⁵⁴ Synthesis of PIPs at the plasma membrane⁵⁴ 3-phosphoinositide biosynthesis³⁷ PI and PC transport between ER and Golgi membranes⁵⁴ Synthesis of PIPs at the Golgi membrane⁵⁴ Synthesis of PIPs at the early endosome membrane⁵⁴ Synthesis of PIPs at the late endosome membrane⁵⁴	9.4	MTMR2, MTMR14, MTM1
3	Glycerophospholipid biosynthesis⁵⁴ Show member pathways Hydrolysis of LPC⁵⁴ Synthesis of PE⁵⁴ Synthesis of PC⁵⁴ Synthesis of PG⁵⁴ glycerol-3-phosphate shuttle³⁷ phosphatidylethanolamine biosynthesis III³⁷ Acyl chain remodeling of CL⁵⁴ Hydrolysis of LPE⁵⁴ Acyl chain remodelling of PI⁵⁴ cardiolipin biosynthesis II³⁷ Phospholipid metabolism⁵⁴ Synthesis of CL⁵⁴ Synthesis of PS⁵⁴ Synthesis of PA⁵⁴ Acyl chain remodelling of PG⁵⁴ Glycerophospholipid metabolism³⁰ choline biosynthesis III³⁷	9.4	MTMR2, MTMR14, MTM1
4	Hypertrophic cardiomyopathy (HCM)³⁰ Show member pathways Arrhythmogenic right ventricular cardiomyopathy (ARVC)³⁰ Arrhythmogenic right ventricular cardiomyopathy³⁷ Dilated cardiomyopathy³⁰	8.9	DES, DMD, TTN
5	Striated Muscle Contraction³⁷ Show member pathways Smooth Muscle Contraction⁵⁴ Muscle contraction⁵⁴ Striated Muscle Contraction⁵⁴	8.9	TTN, DMD, DES

Compounds for genes affiliated with Centronuclear Myopathy

Sources:
⁴⁴Novoseek, ²⁹IUPHAR, ⁶⁰Tocris Bioscience, ²⁵HMDB, ⁵⁰PharmGKB, ¹²DrugBank
See all sources

Compounds related to Centronuclear Myopathy according to GeneCards/GeneDecks:

(show all 21)

id	Compound	Score	Top Affiliating Genes
1	phosphatidylinositol 3-phosphate⁴⁴	9.9	MTM1, MTMR2
2	alpha-bungarotoxin⁴⁴ ²⁹ ⁶⁰	11.8	DMD, DES
3	Phosphate²⁵	9.5	DNM2, MTMR14, MTM1
4	ryanodine⁴⁴ ²⁹ ⁶⁰	11.4	RYR1, TTN, DES
5	hematoxylin⁴⁴	9.3	DES, DMD, NCAM1
6	bromodeoxyuridine⁴⁴	9.2	DES, DMD, NCAM1
7	phosphatidylinositol⁴⁴	9.0	MTM1, MTMR2, DNM2, NCAM1
8	polyacrylamide⁴⁴	9.0	TTN, DMD, DES
9	doxorubicin⁴⁴ ⁵⁰ ¹²	10.9	DES, NCAM1, RYR1
10	glycogen⁴⁴ ²⁵	9.9	TTN, DMD, DES
11	heparin⁴⁴ ²⁹ ²⁵ ¹²	11.9	RYR1, NCAM1, DMD, DES
12	potassium⁴⁴ ²⁵ ¹²	10.8	DMD, TTN, NCAM1, RYR1
13	nitric oxide⁴⁴ ²⁵ ¹²	10.7	DES, DMD, DNM2, NCAM1, RYR1
14	lipid⁴⁴	8.7	DMD, MTM1, DNM2, NCAM1, RYR1
15	gold⁴⁴	8.7	NCAM1, TTN, DMD, DES
16	proline⁴⁴	8.6	DES, DMD, TTN, DNM2, RYR1
17	cysteine⁴⁴	8.3	RYR1, NCAM1, TTN, DMD, DES
18	tyrosine⁴⁴	8.2	DES, DMD, MTM1, MTMR2, DNM2, NCAM1
19	acetylcholine⁴⁴ ⁵⁰ ²⁹ ²⁵ ¹²	12.1	RYR1, NCAM1, MYF6, TTN, DMD, DES
20	creatinine⁴⁴	8.1	DES, DMD, TTN, MYF6, NCAM1, RYR1
21	serine⁴⁴	8.0	DES, DMD, TTN, NCAM1, RYR1

GO Terms for genes affiliated with Centronuclear Myopathy

Sources:
¹⁷Gene Ontology
See all sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	filopodium	GO:030175	9.6	MTM1, DMD
2	I band	GO:031674	9.3	RYR1, MTM1, TTN
3	vacuolar membrane	GO:005774	9.1	MTMR2, SBF2
4	cytosol	GO:005829	7.6	DES, DMD, TTN, MTM1, MTMR14, MTMR2
5	cytoplasm	GO:005737	7.4	TTN, MTM1, MTMR2, DNM2, BIN1, NCAM1

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

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	phosphatidylinositol dephosphorylation	GO:046856	9.8	MTM1, MTMR2
2	muscle cell differentiation	GO:042692	9.6	BIN1, MYF6
3	phosphatidylinositol biosynthetic process	GO:006661	9.6	MTMR2, MTMR14, MTM1
4	protein dephosphorylation	GO:006470	9.5	SBF1, MTMR2, MTM1
5	phospholipid metabolic process	GO:006644	9.5	MTMR2, MTMR14, MTM1
6	cardiac muscle contraction	GO:060048	9.3	TTN, DMD
7	regulation of Rab GTPase activity	GO:032313	9.3	SBF1, SBF2
8	muscle contraction	GO:006936	9.3	DES, TTN, RYR1
9	protein tetramerization	GO:051262	9.1	MTMR2, SBF2
10	muscle filament sliding	GO:030049	9.1	TTN, DMD, DES

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

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	phosphatidylinositol-3-phosphatase activity	GO:004438	10.0	MTMR14, MTM1
2	protein tyrosine phosphatase activity	GO:004725	9.5	MTMR2, MTMR14, MTM1
3	protein tyrosine/serine/threonine phosphatase activity	GO:008138	9.4	SBF1, MTMR2
4	structural constituent of muscle	GO:008307	9.3	TTN, DMD
5	Rab guanyl-nucleotide exchange factor activity	GO:017112	9.2	SBF1, SBF2
6	identical protein binding	GO:042802	8.6	DES, TTN, BIN1, NCAM1
7	protein binding	GO:005515	6.5	DES, DMD, TTN, MTM1, MTMR2, DNM2