Vacuolar Myopathy malady

NIH Rare Diseases: Vacuolar myopathy is a disease of the muscles (myopathy) that occurs when many abnormal pockets or spaces called vacuoles develop in the muscle cells.  The vacuoles stop the muscles from working properly and cause weakness and difficulty moving and breathing.  Muscles of the legs and arms are often affected, though muscles in other parts of the body (such as the heart or chest muscles used for breathing) may also be affected.  There are several types of vacuolar myopathy; the parts of the body affected, as well as the severity and worsening of muscle weakness, vary among the types.  The cause of most types of vacuolar myopathy is currently unknown.³⁰

MalaCards: Vacuolar Myopathy, also known as autophagic vacuolar myopathy, is related to danon disease and centronuclear myopathy. An important gene associated with Vacuolar Myopathy is LAMP2 (lysosomal-associated membrane protein 2), and among its related pathways is Lysosome. The compounds 1-deoxynojirimycin and castanospermine have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are muscle and renal/urinary system.

vacuolar myopathy 30 43 autophagic vacuolar myopathy 30

avm 30

Diseases related to vacuolar myopathy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 60)

id	Related Disease	Score	Top Affiliating Genes
1	danon disease	29.1	GAA, DMD, MPP2, LAMP2, VMA21
2	centronuclear myopathy	28.5	SPTB, DMD, CAV3
3	myopathy	28.4	VMA21, GAA, LAMP2, MPP2, GUSB, GNE
4	lysosomal acid phosphatase deficiency	13.2	GAA, LAMP2
5	x-linked myopathy with excessive autophagy	13.2	VMA21, GAA
6	glycogen storage disease ii	13.2	VMA21, GAA
7	rippling muscle disease	13.2	GAA, CAV3
8	muscle disorders	13.1	CAV3, GAA
9	facioscapulohumeral muscular dystrophy	13.0	GAA, DMD
10	rigid spine syndrome	13.0	GAA, DMD
11	limb-girdle muscular dystrophy, type 2b	12.9	CAV3, DMD
12	dystrophinopathies	12.9	CAV3, DMD
13	otopalatodigital syndrome	12.9	DMD, SPTB
14	calpainopathy	12.9	CAV3, DMD
15	limb-girdle muscular dystrophy	12.9	CAV3, DMD
16	becker muscular dystrophy	12.9	SPTB, DMD
17	spinal muscular atrophy	12.8	DMD, GAA
18	distal muscular dystrophy	12.8	GNE, DMD
19	myopathy congenital	12.8	GAA, DMD
20	inclusion body myopathy	12.7	GNE, DMD
21	progressive muscular atrophy	12.7	CAV3, NEU1
22	chediak-higashi syndrome	12.7	GUSB, LAMP2
23	mucopolysaccharidosis	12.5	GUSB, GAA
24	duchenne muscular dystrophy	12.5	SPTB, DMD, CAV3
25	sialuria	12.5	GNE, NEU1
26	myositis	12.5	GAA, SPTB, DMD
27	gas gangrene	12.5	DMD, NEU1
28	muscular atrophy	12.5	GAA, DMD, CAV3
29	mucopolysaccharidosis iv	12.4	NEU1, GUSB
30	mucolipidosis ii	12.4	NEU1, GUSB
31	hypertrophy of breast	12.3	GAA, DMD, CAV3, LAMP2
32	neuromuscular disease	12.2	GNE, CAV3, DMD, GAA
33	lysosomal storage disease	12.1	GUSB, NEU1, GAA
34	mucolipidosis	12.1	GUSB, NEU1
35	glycogen storage disease	12.0	GAA, DMD, MPP2, LAMP2, VMA21
36	hydrops fetalis	12.0	GUSB, SPTB, NEU1
37	arrhythmogenic right ventricular dysplasia/cardiomyopathy multi-gene panels	12.0	CAV3, DMD, NEU1
38	hypertrophic cardiomyopathy	12.0	GAA, DMD, CAV3, MPP2, LAMP2
39	dmd-associated dilated cardiomyopathy	12.0	GAA, DMD, CAV3, MPP2, LAMP2
40	protein s deficiency	11.9	GAA, SPTB, DMD, CAV3, LAMP2
41	noonan syndrome	11.9	GAA, DMD, CAV3, MPP2, LAMP2
42	hemolytic anemia	11.9	SPTB, NEU1
43	congenital heart defect	11.9	LAMP2, DMD, NEU1, GAA
44	mental retardation syndrome	11.7	GAA, DMD, GUSB, MPP2, LAMP2
45	muscular dystrophy	11.7	GAA, SPTB, DMD, CAV3, GNE
46	neurodegeneration	11.6	NEU1, GUSB, MPP2, LAMP2
47	pneumonia	11.0	GAA, NEU1, GNE, GUSB, MPP2
48	colon cancer	10.9	GAA, NEU1, SPTB, GUSB, LAMP2
49	cholesterol	10.8	NEU1, CAV3, GUSB, MPP2, LAMP2
50	neuronitis	9.8	GAA, NEU1, SPTB, DMD, CAV3, GUSB

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to vacuolar myopathy:

²²

MGI Mouse Phenotypes related to vacuolar myopathy:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	7.7	NEU1, DMD, CAV3, GNE, GAA, LAMP2
2	renal/urinary system phenotype	MP:0005367	7.6	SPTB, DMD, GNE, GUSB, NEU1
3	skeleton phenotype	MP:0005390	7.6	NEU1, LAMP2, GUSB, DMD, GAA
4	immune system phenotype	MP:0005387	7.5	NEU1, LAMP2, DMD, CAV3, GNE, SPTB
5	cardiovascular system phenotype	MP:0005385	7.3	LAMP2, GAA, NEU1, SPTB, DMD, CAV3
6	growth/size phenotype	MP:0005378	6.8	DMD, GNE, GUSB, LAMP2, SPTB, NEU1
7	homeostasis/metabolism phenotype	MP:0005376	6.6	SPTB, GAA, NEU1, DMD, CAV3, GNE

Articles related to vacuolar myopathy:

(show all 12)

id	Title	Authors	Year	Affiliating Genes
1	Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies (20120346)	Nishino I.	2010	LAMP2, GNE
2	An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus. (19243213)	Kepron C.... Keating S.	2009	GUSB, NEU1
3	Danon disease as a cause of autophagic vacuolar myopathy. (18377432)	Yang Z.... Vatta M.	2007	LAMP2, MPP2
4	LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy. (17541230)	Sugimoto S.... Ohi T.	2007	GAA, LAMP2, MPP2
5	A novel vacuolar myopathy with dilated cardiomyopathy. (17873513)	Sugimoto S.	2007	GAA, LAMP2, MPP2
6	Autophagic vacuolar myopathy in twin girls. (16640643)	Holton J.L.... Al-Memar A.	2006	GAA, LAMP2, DMD
7	Autophagic vacuolar myopathies. (12507414)	Nishino I.	2003	GAA, LAMP2
8	A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement. (12847175)	Kaneda D.... Nishino I.	2003	LAMP2
9	Infantile autophagic vacuolar myopathy is distinct from Danon disease. (11552028)	Yamamoto A.... Nishino I.	2001	LAMP2
10	X-linked vacuolar myopathies: two separate loci and r efined genetic mapping. (10805342)	Auranen M.... Minassian B.A.	2000	VMA21
11	Caveolin-3 and sarcoglycans in the vacuolar myopathies and centronuclear myopathy. (10417791)	Inose M.... Osame M.	1999	DMD, CAV3, SPTB
12	Localization of dystrophin and beta-spectrin in vacuolar myopathies. (8214011)	De Bleecker J.L.... Winkelmann J.C.	1993	GAA, DMD, SPTB

Genes related to vacuolar myopathy according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	LAMP2	lysosomal-associated membrane protein 2	11.0	Publications
2	VMA21	VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)	11.0	Publications
3	GAA	glucosidase, alpha; acid	11.0	Publications
4	CAV3	caveolin 3	11.0	Publications
5	SPTB	spectrin, beta, erythrocytic	11.0	Publications
6	MPP2	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	11.0	Publications
7	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	11.0	Publications
8	GUSB	glucuronidase, beta	11.0	Publications
9	NEU1	sialidase 1 (lysosomal sialidase)	11.0	Publications
10	DMD	dystrophin	11.0	Publications

Pathways related to vacuolar myopathy according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Lysosome20	8.4	LAMP2, GUSB, NEU1, GAA

Compounds related to vacuolar myopathy according to GeneDecks:

(show all 12)

id	Compound	Score	Top Affiliating Genes
1	1-deoxynojirimycin32 42 9 9	12.5	GAA, NEU1
2	castanospermine32 42	10.4	GAA, NEU1
3	neuraminic acid32 18	10.4	NEU1, GNE
4	glucose32	9.3	SPTB, GAA, DMD
5	glutaraldehyde32	9.2	SPTB, NEU1
6	4-methylumbelliferone32	9.2	GUSB, NEU1
7	sucrose32 9 18 9	12.1	GAA, LAMP2, CAV3, DMD
8	n-acetyllactosamine32 18	10.1	NEU1, LAMP2
9	agarose32	8.7	DMD, SPTB, NEU1
10	glycogen32 18	9.7	MPP2, LAMP2, DMD, GAA, CAV3
11	creatinine32	8.5	GAA, GUSB, DMD, CAV3
12	mannose 6-phosphate32 18	9.2	GUSB, LAMP2, MPP2, GAA, NEU1

Cellular components related to vacuolar myopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	dystrophin-associated glycoprotein complex	GO:016010	9.3	CAV3, DMD
2	lysosomal membrane	GO:005765	9.0	NEU1, LAMP2, GAA
3	lysosome	GO:005764	8.7	VMA21, LAMP2, NEU1, GAA
4	cell surface	GO:009986	8.6	SPTB, DMD, MPP2, CAV3

Biological processes related to vacuolar myopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	muscle cell homeostasis	GO:046716	9.8	CAV3, GAA
2	plasma membrane organization	GO:007009	9.4	CAV3, SPTB
3	muscle organ development	GO:007517	9.1	CAV3, DMD, GAA

Molecular functions related to vacuolar myopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nitric-oxide synthase binding	GO:050998	9.6	CAV3, DMD