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

Summaries for Centronuclear Myopathy

Sources:
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

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

Classifications:

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

ICD10: ²⁶

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

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

OMIM⁴⁶ 160150, 614408

ICD10 via Orphanet²⁶ G71.2

UMLS⁶⁰ C0175709

Related Diseases for Centronuclear Myopathy

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

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)

id	Related Disease	Score	Top Affiliating Genes
1	myopathy	31.8	TTN, RYR1, SBF2, SBF1, DNM2, NCAM1
2	centronuclear myopathy 1	30.5	MTMR14, DNM2
3	neuropathy	30.5	CAV3, DMD, MTM1, MTMR2, DNM2, SBF2
4	charcot-marie-tooth disease	30.2	MTM1, MTMR2, DNM2, SBF2, PLEK
5	central core myopathy	30.2	RYR1, DES
6	nemaline myopathy	30.2	RYR1, DES
7	myotonic dystrophy	30.2	RYR1, MTM1, DMD
8	dilated cardiomyopathy	30.2	DMD, DES, RYR1, TTN
9	x-linked centronuclear myopathy	10.6
10	centronuclear myopathy, autosomal, modifier of	10.5
11	centronuclear myopathy 4	10.4
12	peliosis hepatis	10.4
13	hepatitis a	10.4
14	hepatitis	10.4
15	centronuclear myopathy 3	10.4
16	cataract	10.3
17	neutropenia	10.3
18	peripheral neuropathy	10.3
19	centronuclear myopathy 2	10.3
20	casp10-related autoimmune lymphoproliferative syndrome	10.3
21	intrahepatic cholestasis	10.1
22	muscular atrophy	10.1
23	cholestasis	10.1
24	congenital structural myopathy	10.1
25	spinal muscular atrophy	10.1
26	tooth disease	10.1
27	congestive heart failure	10.1
28	multiple sclerosis	10.1
29	congenital fiber-type disproportion	10.1
30	myofibrillar myopathy	10.0	DES
31	dystrophinopathies	10.0	DMD
32	noonan syndrome	10.0	ACP1
33	charcot-marie-tooth neuropathy type 4	10.0	SBF2, MTMR2
34	rippling muscle disease	10.0	CAV3
35	rhabdoid tumor	10.0	DES
36	bubonic plague	10.0	CDKN3, ACP1
37	glaucoma	10.0	SBF2, MTMR2
38	thymoma	10.0	RYR1, TTN
39	hypertrophic cardiomyopathy	10.0	TTN
40	sarcoma	10.0	DES, ACP1
41	emery-dreifuss muscular dystrophy	10.0	NCAM1, DMD
42	myasthenia gravis	10.0	DMD, RYR1, TTN
43	limb-girdle muscular dystrophy, type 2g	10.0	TTN, DMD
44	charcot-marie-tooth disease type 4b1	10.0	MTM1, MTMR2, CDKN3, SBF2
45	polymyositis	10.0	TTN, NCAM1, DMD
46	limb-girdle muscular dystrophy, type 2b	10.0	CAV3, DMD, TTN
47	limb-girdle muscular dystrophy, type 1a	10.0	TTN, CAV3
48	calpainopathy	10.0	CAV3, DMD, TTN
49	neuroblastoma	10.0	NCAM1
50	limb-girdle muscular dystrophy	10.0	TTN, DMD, CAV3

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

Clinical Features for Centronuclear Myopathy

Sources:
⁴⁶OMIM
See all sources

Clinical features from OMIM:

160150,614408,255200

Clinical synopsis from OMIM:

255200

Drugs & Therapeutics for Centronuclear Myopathy

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶⁰UMLS, ⁴⁰NDF-RT
See all sources

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

Sources:
²²GTR
See all sources

Genetic tests related to Centronuclear Myopathy:

id	Genetic test	Affiliating Genes
1	Myotubular Myopathy²²

Anatomical Context for Centronuclear Myopathy

Sources:
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

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Centronuclear Myopathy:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system phenotype	MP:0005385	9.4	DMD, MTM1, MTMR14, DES, RYR1, BIN1
2	behavior/neurological phenotype	MP:0005386	9.3	MTMR14, MTMR2, MTM1, DMD, DES, NCAM1
3	muscle phenotype	MP:0005369	9.1	SRPK3, CAV3, DMD, MTM1, MTMR14, DES
4	homeostasis/metabolism phenotype	MP:0005376	9.1	MTMR14, MTM1, DMD, CAV3, DES, MYF6
5	cellular phenotype	MP:0005384	9.1	NCAM1, MTM1, DMD, CAV3, DNM2, RYR1
6	growth/size phenotype	MP:0005378	9.0	NCAM1, MTMR2, MTM1, DMD, MYF6, DNM2
7	mortality/aging	MP:0010768	8.8	DES, MTMR2, MTM1, DMD, NCAM1, MYF6

Publications for Centronuclear Myopathy

Sources:
⁵⁰PubMed
See all sources

Articles related to Centronuclear Myopathy:

(show top 50) (show all 146)

id	Title	Authors	Year
1	Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. (23975875)	Ceyhan-Birsoy O.... Beggs A.H.	2013
2	Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation. (22924779)	Hanna N.... Edward D.P.	2013
3	A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice. (22369075)	Durieux A.C.... Bitoun M.	2012
4	Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. (23071563)	Maurer M.... Tiret L.	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)	Cowling B.S.... Laporte J.	2011
6	Dilated cardiomyopathy with centronuclear myopathy in a young male. (21658785)	Nomura S.... Kobayashi Y.	2011
7	Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. (22096584)	Koutsopoulos O.S.... Laporte J.	2011
8	Mice lacking microRNA 133a develop dynamin 2a89dependent centronuclear myopathy. (21737882)	Liu N.... Olson E.N.	2011
9	Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation. (21129173)	BAPhm J.... Laporte J.	2010
10	Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. (19932619)	Melberg A.... Laporte J.	2010
11	Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. (20817456)	Liewluck T.... Engel A.G.	2010
12	Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation. (20476667)	Mejaddam A.Y.... Sejersen T.	2009
13	"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. (19084976)	Bevilacqua J.A.... Romero N.B.	2009
14	Genetic testing for all forms of myotubular/centronuclear myopathy. (18402390)	Foye P.M.	2008
15	Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. (17932957)	Bitoun M.... Guicheney P.	2007
16	Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. (17676042)	Nicot A.-S.... Laporte J.	2007
17	An atypical presentation of sporadic adult-onset centronuclear myopathy. (17290936)	Pistolesi S.... Fontanini G.	2007
18	Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. (17825552)	Echaniz-Laguna A.... Laporte J.	2007
19	Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. (17376685)	Jungbluth H.... Muntoni F.	2007
20	Mutations in dynamin 2 cause dominant centronuclear myopathy. (16227997)	Bitoun M.... Guicheney P.	2005
21	X-linked centronuclear myopathy. (12874727)	Fan H.C.... Yuh Y.S.	2003
22	Centronuclear myopathy. Histopathological aspects in ten patients with childhood onset. (9686113)	Zanoteli E.... Gabbai A.A.	1998
23	Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset. (9667782)	Zanoteli E.... Gabbai A.A.	1998
24	Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies. (7935525)	Mora M.... Daniel S.	1994
25	Report on the 20th ENMC sponsored international workshop: myotubular/centronuclear myopathy. (8173354)	Wallgren-Pettersson C.... Thomas N.S.	1994
26	Postnatal centralization of muscle fibre nuclei in centronuclear myopathy. (1822797)	van der Ven P.F.... Sengers R.C.	1991
27	Severe neonatal asphyxia due to X-linked centronuclear myopathy. (2279510)	Braga S.E.... Moser H.	1990
28	Adult-onset centronuclear myopathy: evidence against a neurogenic pathology. (2816279)	Baradello A.... Carrozza G.	1989
29	Problems in genetic counseling in a family with an "atypical" centronuclear myopathy. (2729361)	MA1ller B.... Grimm T.	1989
30	X-linked centronuclear myopathy as a cause of floppy baby. (3817270)	Donders G.... Van Assche F.A.	1987
31	Centronuclear myopathy in black African children--report of 4 cases. (3696389)	Moosa A.... Dawood A.A.	1987
32	Centronuclear myopathy with unusual clinical picture. (3569369)	Lovaste M.G.... Ferrari G.	1987
33	Familial X-linked centronuclear myopathy. (3804673)	Quinn M.... Cosgrove J.	1986
34	Centronuclear myopathy, cataract, and electrical myotonia: a new case. (4079961)	Vallat J.M.... Vallat M.	1985
35	Centronuclear myopathy with unusual mitochondrial abnormalities. (2983917)	Canal N.... Cornelio F.	1985
36	Centronuclear myopathy with special consideration of the adult form. (6542524)	Goebel H.H.... Mielke U.	1984
37	Perinatal diagnosis of myotubular (centronuclear) myopathy: a case report. (6851300)	Collins J.E.... Weller R.O.	1983
38	Infantile centronuclear myopathy. Evidence suggesting incomplete innervation. (6875615)	Elder G.B.... deSa D.	1983
39	Myopathy with pathological features of both centronuclear myopathy and multicore disease. (7161626)	Fitzsimons R.B.... McLeod J.G.	1982
40	Type I fiber atrophy and internal nuclei. A form of centronuclear myopathy? (6213218)	Peyronnard J.M.... Ninkovic S.	1982
41	Centronuclear myopathy: extraocular- and limb-muscle findings in an adult. (6445039)	Bergen B.J.... Ringel S.P.	1980
42	Centronuclear myopathy with type I fibre hypotrophy and "fingerprint" inclusions associated with Marfan's syndrome. (6244371)	Jadro-Santel D.... Benc H.	1980
43	Crural hypertrophy associated with centronuclear myopathy. (157387)	Bill P.... Botes A.	1979
44	Histochemical and ultrastructural findings in a case of centronuclear myopathy. (154406)	Palmucci L.... Schiffer D.	1978
45	Familial centronuclear myopathy associated with 'cardiomyopathy'. (131568)	Verhiest W.... De Geest H.	1976
46	Neuropathy in myotubular or centronuclear myopathy. (1147795)	Sica R.E.... Sanz O.P.	1975
47	Centronuclear myopathy: a light and electron microscopic study and a review of the literature. (4741006)	Shirabe T.... Araki S.	1973
48	Centronuclear myopathy: disease entity or a syndrome? Light- and electron-microscopic study of two cases and review of the literature. (5037445)	Schochet S.S.... McCormick W.F.	1972
49	Centronuclear myopathy with type I fiber atrophy and "myotubes". (4246348)	Bethlem J.... Meijer A.E.	1970
50	Centronuclear myopathy. (5711397)	Bethlem J.... Vroom J.J.	1968

Genes related to Centronuclear Myopathy

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁶OMIM, ⁴⁸Orphanet, ⁶²UniProtKB/Swiss-Prot
See all sources

Genes related to Centronuclear Myopathy:

(show all 37)

id	Symbol	Description	Score	Implication
1	DNM2	dynamin 2	20.29	Molecular basis known ⁴⁶ Causative germline mutation ⁴⁸ Causative variation ⁶² GeneCards inferred : Publications, Disorders (show sections)
2	BIN1	bridging integrator 1	19.74	Molecular basis known ⁴⁶ Causative variation ⁶² GeneCards inferred : Publications, Disorders (show sections)
3	MTMR14	myotubularin related protein 14	19.25	Causative germline mutation ⁴⁸ Causative variation ⁶² GeneCards inferred : Publications, Disorders, Summaries (show sections)
4	MYF6	myogenic factor 6 (herculin)	18.71	Causative germline mutation ⁴⁸ GeneCards inferred : Disorders, Summaries (show sections)
5	RYR1	ryanodine receptor 1 (skeletal)	18.12	Causative germline mutation ⁴⁸ GeneCards inferred : Publications, Disorders (show sections)
6	MTM1	myotubularin 1	17.58	GeneCards inferred : Publications, Disorders (show sections)
7	SBF1	SET binding factor 1	17.04	GeneCards inferred : Disorders (show sections)
8	MTMR2	myotubularin related protein 2	16.50	GeneCards inferred : Disorders (show sections)
9	DES	desmin	15.96	GeneCards inferred : Publications, Disorders (show sections)
10	NCAM1	neural cell adhesion molecule 1	15.41	GeneCards inferred : Publications, Disorders (show sections)
11	TTN	titin	14.87	GeneCards inferred : Disorders (show sections)
12	SBF2	SET binding factor 2	14.33	GeneCards inferred : Disorders (show sections)
13	DMD	dystrophin	13.79	GeneCards inferred : Publications, Disorders (show sections)
14	CAV3	caveolin 3	13.24	GeneCards inferred : Publications, Disorders (show sections)
15	PLEK	pleckstrin	12.71	GeneCards inferred : Publications, Disorders (show sections)
16	PTP4A2	protein tyrosine phosphatase type IVA, member 2	12.17	GeneCards inferred : Disorders (show sections)
17	CDKN3	cyclin-dependent kinase inhibitor 3	11.63	GeneCards inferred : Publications, Disorders (show sections)
18	ACP1	acid phosphatase 1, soluble	11.09	GeneCards inferred : Disorders (show sections)
19	SRPK3	SRSF protein kinase 3	10.54	GeneCards inferred : Publications, Disorders (show sections)
20	MT1DP	metallothionein 1D, pseudogene	10.00	GeneCards inferred : Disorders (show sections)
21	PTPMT1	protein tyrosine phosphatase, mitochondrial 1	9.46	GeneCards inferred : Disorders (show sections)
22	SPTB	spectrin, beta, erythrocytic	8.91	GeneCards inferred : Publications, Disorders (show sections)
23	ATP2B3	ATPase, Ca++ transporting, plasma membrane 3	8.37	GeneCards inferred : Disorders (show sections)
24	MTMR1	myotubularin related protein 1	7.83	GeneCards inferred : Disorders (show sections)
25	PTPLA	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	7.29	GeneCards inferred : Disorders (show sections)
26	CHKB	choline kinase beta	6.75	GeneCards inferred : Publications, Disorders (show sections)
27	MTMR12	myotubularin related protein 12	6.21	GeneCards inferred : Publications, Disorders (show sections)
28	MTMR6	myotubularin related protein 6	5.67	GeneCards inferred : Disorders (show sections)
29	MTMR8	myotubularin related protein 8	5.13	GeneCards inferred : Disorders (show sections)
30	UBL4A	ubiquitin-like 4A	4.59	GeneCards inferred : Disorders (show sections)
31	PIK3R4	phosphoinositide-3-kinase, regulatory subunit 4	4.05	GeneCards inferred : Disorders (show sections)
32	PIK3C3	phosphatidylinositol 3-kinase, catalytic subunit type 3	3.51	GeneCards inferred : Disorders (show sections)
33	MTMR3	myotubularin related protein 3	2.97	GeneCards inferred : Disorders (show sections)
34	GABRA3	gamma-aminobutyric acid (GABA) A receptor, alpha 3	2.43	GeneCards inferred : Disorders (show sections)
35	INSR	insulin receptor	1.89	GeneCards inferred : Publications, Disorders (show sections)
36	DNM3	dynamin 3	1.35	GeneCards inferred : Publications, Disorders (show sections)
37	AMPH	amphiphysin	0.81	GeneCards inferred : Disorders (show sections)

Products for genes related to Centronuclear Myopathy disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	32	32	35
2	LSBio	-	-	37

Genetic Variations for Centronuclear Myopathy

Sources:
⁶²UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Centronuclear Myopathy:

⁶² (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

Expression for genes affiliated with Centronuclear Myopathy

Sources:
¹BioGPS, ¹⁵Gene 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:
⁵³Reactome, ³⁷NCBI BioSystems Database, ²⁹KEGG
See all sources

Pathways related to Centronuclear Myopathy according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Synthesis of PIPs at the early endosome membrane⁵³ Hide members Synthesis of PIPs at the late endosome membrane⁵³	10.2	MTMR2, MTM1
2	PI Metabolism⁵³ Hide members Synthesis of PIPs at the plasma membrane⁵³	10.1	MTM1, MTMR2, MTMR14
3	Striated Muscle Contraction³⁷ Hide members Muscle contraction⁵³ Striated Muscle Contraction⁵³	10.0	DMD, TTN, DES
4	Hypertrophic cardiomyopathy (HCM)²⁹ Hide members Dilated cardiomyopathy²⁹ Arrhythmogenic right ventricular cardiomyopathy (ARVC)²⁹ Arrhythmogenic right ventricular cardiomyopathy³⁷	10.0	TTN, DMD, DES

Compounds for genes affiliated with Centronuclear Myopathy

Sources:
⁴⁴Novoseek, ⁵⁹Tocris Bioscience, ¹¹DrugBank, ²⁸IUPHAR, ²⁴HMDB, ⁴⁹PharmGKB
See all sources

Compounds related to Centronuclear Myopathy according to GeneCards/GeneDecks:

(show all 43)

id	Compound	Score	Top Affiliating Genes
1	alpha-bungarotoxin⁴⁴ ⁵⁹	11.4	DES, DMD
2	ptdins(3)p⁴⁴	10.4	PLEK, CDKN3, MTM1
3	sodium stibogluconate⁴⁴ ¹¹	11.4	ACP1, CDKN3
4	ryanodine⁴⁴ ²⁸ ⁵⁹	12.4	DES, RYR1, TTN
5	hematoxylin⁴⁴	10.3	DMD, DES, NCAM1
6	sodium orthovanadate⁴⁴ ⁵⁹	11.3	CDKN3, ACP1, PTP4A2
7	pip2⁴⁴	10.3	RYR1, TTN, PLEK
8	phenylarsine oxide⁴⁴	10.3	CDKN3, ACP1, PTP4A2
9	phosphatidylinositol 3-phosphate⁴⁴	10.3	MTM1, MTMR2, CDKN3, PLEK
10	gold⁴⁴	10.3	TTN, NCAM1, DES, DMD
11	phosphoserine⁴⁴ ²⁴	11.3	CDKN3, ACP1, PTP4A2
12	isoproterenol⁴⁴ ¹¹	11.2	CAV3, DMD, RYR1, ACP1
13	inositol⁴⁴	10.2	CDKN3, RYR1, PLEK, ACP1
14	ganciclovir⁴⁴ ¹¹	11.2	CDKN3, ACP1, PTP4A2
15	n-ethylmaleimide⁴⁴ ¹¹	11.2	CDKN3, RYR1, ACP1
16	gaba⁴⁴	10.2	ACP1, RYR1, CDKN3, NCAM1
17	suramin⁴⁴ ²⁸ ¹¹	12.1	NCAM1, RYR1, ACP1
18	vanadate⁴⁴	10.1	PTP4A2, ACP1, CDKN3
19	glycogen⁴⁴ ²⁴	11.1	CAV3, DMD, DES, CDKN3, TTN
20	nmda⁴⁴ ²⁸	11.1	NCAM1, CDKN3, RYR1, ACP1, PTP4A2
21	proline⁴⁴	10.1	DMD, DES, DNM2, RYR1, TTN, PLEK
22	phosphotyrosine⁴⁴	10.0	MTM1, CDKN3, PLEK, ACP1, PTP4A2
23	heparin⁴⁴ ²⁸ ¹¹ ²⁴	13.0	DMD, DES, NCAM1, RYR1, ACP1
24	norepinephrine⁴⁴ ¹¹ ²⁴	12.0	ACP1, PLEK, RYR1, DES
25	p-nitrophenyl phosphate⁴⁴	10.0	ACP1, CDKN3
26	biotin⁴⁴ ¹¹ ²⁴	12.0	DMD, DES, CDKN3
27	phosphoinositide⁴⁴	10.0	MTM1, MTMR2, DNM2, CDKN3, PLEK, ACP1
28	creatinine⁴⁴	9.9	CAV3, DMD, DES, NCAM1, MYF6, RYR1
29	potassium⁴⁴ ¹¹ ²⁴	11.9	TTN, RYR1, NCAM1, DMD
30	nitric oxide⁴⁴ ¹¹ ²⁴	11.9	CAV3, DMD, DES, NCAM1, DNM2, RYR1
31	rapamycin⁴⁴	9.9	ACP1, PLEK, RYR1, CDKN3
32	glutamate⁴⁴	9.9	NCAM1, CDKN3, RYR1, TTN, PLEK, ACP1
33	adenylate⁴⁴	9.9	DMD, DES, CDKN3, PLEK, ACP1
34	alanine⁴⁴	9.9	DMD, NCAM1, CDKN3, RYR1, PLEK, ACP1
35	lipid⁴⁴	9.8	CAV3, DMD, MTM1, NCAM1, DNM2, RYR1
36	threonine⁴⁴	9.8	DES, NCAM1, CDKN3, TTN, PLEK, ACP1
37	acetylcholine⁴⁴ ⁴⁹ ²⁸ ¹¹ ²⁴	13.7	ACP1, DMD, DES, NCAM1, MYF6, CDKN3
38	phosphatidylinositol⁴⁴	9.7	CAV3, MTM1, MTMR2, NCAM1, DNM2, CDKN3
39	serine⁴⁴	9.6	DMD, DES, NCAM1, CDKN3, RYR1, TTN
40	doxorubicin⁴⁴ ⁴⁹ ¹¹	11.6	DES, NCAM1, RYR1, ACP1
41	cysteine⁴⁴	9.5	DMD, DES, NCAM1, CDKN3, RYR1, TTN
42	calcium⁴⁴ ⁴⁹ ¹¹ ²⁴	12.5	CAV3, DMD, DES, NCAM1, CDKN3, RYR1
43	tyrosine⁴⁴	9.4	DMD, MTM1, MTMR2, DES, NCAM1, DNM2

GO Terms for genes affiliated with Centronuclear Myopathy

Sources:
¹⁶Gene Ontology
See all sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	dystrophin-associated glycoprotein complex	GO:016010	10.2	CAV3, DMD
2	I band	GO:031674	10.2	MTM1, RYR1, TTN
3	sarcolemma	GO:042383	9.9	DMD, DES, CAV3
4	vacuolar membrane	GO:005774	9.9	MTMR2, SBF2
5	Z disc	GO:030018	9.9	CAV3, TTN, DES, DMD

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

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	nucleus localization	GO:051647	10.3	CAV3, DMD
2	regulation of skeletal muscle contraction	GO:014819	10.3	CAV3, DMD
3	muscle cell cellular homeostasis	GO:046716	10.2	CAV3, DMD, MTM1
4	phosphatidylinositol biosynthetic process	GO:006661	10.2	MTMR14, MTM1, MTMR2
5	muscle filament sliding	GO:030049	10.2	DES, DMD, TTN
6	endocytosis	GO:006897	10.1	BIN1, CAV3, DNM2
7	muscle contraction	GO:006936	10.1	DES, RYR1, TTN
8	protein dephosphorylation	GO:006470	10.0	MTMR2, MTM1, SBF1
9	phosphatidylinositol dephosphorylation	GO:046856	9.9	MTMR2, MTM1

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

id	Name	GO ID	Score	Top Affiliating Genes
1	nitric-oxide synthase binding	GO:050998	10.2	DMD, CAV3
2	protein tyrosine phosphatase activity	GO:004725	10.0	CDKN3, MTMR14, MTMR2, MTM1
3	phosphatidylinositol-3-phosphatase activity	GO:004438	9.9	MTMR14, MTM1
4	protein tyrosine/serine/threonine phosphatase activity	GO:008138	9.9	CDKN3, MTMR2, SBF1
5	protein binding	GO:005515	8.4	SBF2, DNM2, DES, MTMR2, MTM1, DMD

Products for genes affiliated with Centronuclear Myopathy

Antibodies
Proteins
Lysates

Antibodies

Sources for Centronuclear Myopathy

¹BioGPS

²BitterDB

³CDC

⁴Cell Signaling Technology

⁵CenterWatch

⁶ClinicalTrials

⁷dbSNP

⁸Disease Ontology

⁹diseasecard

¹⁰DISEASES

¹¹DrugBank

¹²EMD Millipore

¹³ExPASy

¹⁴FMA

¹⁵Gene Expression Omnibus DataSets

¹⁶Gene Ontology

¹⁷GeneCards

¹⁸GeneDecks

¹⁹GeneReviews

²⁰GeneTests

²¹Genetics Home Reference

²²GTR

²³HGMD

²⁴HMDB

²⁵ICD10

²⁶ICD10 via Orphanet

²⁷ICD9CM

²⁸IUPHAR

²⁹KEGG

³⁰LifeMap Discovery™

³¹LifeSpan BioSciences, Inc.

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PharmGKB

⁵⁰PubMed

⁵¹QIAGEN

⁵²R&D Systems

⁵³Reactome

⁵⁴SABiosciences

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸Thomson Reuters

⁵⁹Tocris Bioscience

⁶⁰UMLS

⁶¹UMLS via Orphanet

⁶²UniProtKB/Swiss-Prot

⁶³Wikipedia

MCID: CNT004 MIFTS: 65	Centronuclear Myopathy malady Neuronal diseases category
1 symptom, 37 genes, 3 tissues, 65 related diseases, clinical trials, genetic tests.

Centronuclear Myopathy malady