AVM
MCID: VCL001
MIFTS: 37

Vacuolar Myopathy (AVM) malady

Summaries for Vacuolar Myopathy

Sources:
43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 6/28/2012

MalaCards: Vacuolar Myopathy, also known as autophagic vacuolar myopathy, is related to danon disease and mental retardation. An important gene associated with Vacuolar Myopathy is VMA21 (VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)), and among its related pathways is Lysosome. The compounds neuraminic acid and 1-deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and b cells, and related mouse phenotypes are skeleton and renal/urinary system.

Aliases & Classifications for Vacuolar Myopathy

Sources:
43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

vacuolar myopathy 43 61
autophagic vacuolar myopathy 43
avm 43


Related Diseases for Vacuolar Myopathy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Vacuolar Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1danon disease30.5GAA, MPP2, LAMP2
2mental retardation30.5DMD, LAMP2, MPP2, GAA, GUSB
3centronuclear myopathy30.1DMD
4facioscapulohumeral muscular dystrophy30.1DMD, GAA
5myopathy congenital30.1GAA, DMD
6arteriovenous malformation10.6
7intracranial arteriovenous malformation10.5
8x-linked myopathy with excessive autophagy10.3
9hereditary hemorrhagic telangiectasia10.3
10wyburn mason's syndrome10.3
11capillary malformation-arteriovenous malformation syndrome10.3
12pulmonary arteriovenous malformation10.2
13graft versus host disease10.1
14hepatitis c10.1
15inclusion body myositis10.1
16systemic lupus erythematosus10.1
17cystinosis10.1
18celiac disease10.1
19steatorrhea10.1
20arthritis10.1
21thymoma10.1
22chronic graft versus host disease10.1
23nephropathic cystinosis10.1
24myoglobinuria recurrent10.1
25trigeminal neuralgia10.1
26cobb syndrome10.1
27telangiectasia, hereditary hemorrhagic, type 510.1
28gaucher's disease10.0GAA
29glycogen storage disease ii10.0GAA
30rippling muscle disease10.0CAV3
31duchenne muscular dystrophy10.0DMD
32sialuria10.0GNE
33hypertrophic cardiomyopathy10.0LAMP2, GAA
34dystrophinopathies10.0DMD
35gas gangrene10.0DMD
36lysosomal acid phosphatase deficiency10.0GAA, LAMP2
37dilated cardiomyopathy10.0LAMP2, DMD
38chediak-higashi syndrome10.0GUSB
39rigid spine syndrome10.0GAA, DMD
40myositis10.0DMD, SPTB
41tuberculosis10.0GUSB
42limb-girdle muscular dystrophy, type 2b10.0DMD, CAV3
43calpainopathy10.0DMD, CAV3
44becker muscular dystrophy10.0DMD, SPTB
45spinal muscular atrophy10.0DMD, GAA
46limb-girdle muscular dystrophy10.0DMD, CAV3
47mucopolysaccharidosis10.0GUSB, GAA
48hydrops fetalis10.0NEU1, GUSB
49mucopolysaccharidosis iv10.0GUSB, NEU1
50glycogen storage disease10.0LAMP2, MPP2, DMD, GAA

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



Diseases related to vacuolar myopathy

Clinical Features for Vacuolar Myopathy

Drugs & Therapeutics for Vacuolar Myopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Vacuolar Myopathy

Search CenterWatch for Vacuolar Myopathy

Genetic Tests for Vacuolar Myopathy

Anatomical Context for Vacuolar Myopathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Vacuolar Myopathy:

33
Heart, Skeletal muscle, B cells

Animal Models for Vacuolar Myopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Vacuolar Myopathy

Sources:
51PubMed
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Articles related to Vacuolar Myopathy:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
Vacuolar myopathy in an adult Warmblood horse. (23623568)
2013
2
Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease. (23630012)
2013
3
Juvenile autophagic vacuolar myopathy - a new entity or variant? (23324055)
2013
4
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. (23315026)
2013
5
Teaching neuroimages: hydroxychloroquine-induced vacuolar myopathy. (23733558)
2013
6
DNAJB6 Myopathy: A vacuolar myopathy with childhood onset. (24170373)
2013
7
mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy. (23250913)
2013
8
Minocycline-associated rimmed vacuolar myopathy in a patient with rheumatoid arthritis. (23171360)
2012
9
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. (20146070)
2010
10
Necrotizing vacuolar myopathy presenting with recurrent myoglobinuria. (20942590)
2010
11
An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus. (19243213)
2009
12
Vacuolar myopathy in a dog resembling human sporadic inclusion body myositis. (19718499)
2009
13
Acetazolamide prevents vacuolar myopathy in skeletal muscle of K(+) -depleted rats. (18345024)
2008
14
An Autophagic Vacuolar Myopathy-Like Disorder Presenting as Non-Immune Hydrops in a Female Fetus. (18338936)
2008
15
Danon disease as a cause of autophagic vacuolar myopathy. (18377432)
2007
16
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy. (17541230)
2007
17
A novel vacuolar myopathy with dilated cardiomyopathy. (17873513)
2007
18
Autophagic vacuolar myopathy in twin girls. (16640643)
2006
19
Autophagic vacuolar myopathy. (17027858)
2006
20
A case of vacuolar myopathy during the course of chronic hepatitis C. (17049137)
2006
21
Reversible inflammatory and vacuolar myopathy with vitamin E deficiency in celiac disease. (15389648)
2005
22
A new congenital form of X-linked autophagic vacuolar myopathy. (16217076)
2005
23
Hydroxychloroquine causes severe vacuolar myopathy in a patient with chronic graft-versus-host disease. (15795921)
2005
24
A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement. (12847175)
2003
25
Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation. (12398843)
2002
26
Colchicine myopathy: a vacuolar myopathy with selective type I muscle fiber involvement. An immunohistochemical and electron microscopic study of two cases. (11810174)
2002
27
Hitherto undescribed venous vacuolar myopathy without mucoid degeneration in the varicose saphenous vein of a child. (11284094)
2001
28
Infantile autophagic vacuolar myopathy is distinct from Danon disease. (11552028)
2001
29
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). (10972294)
2000
30
Caveolin-3 and sarcoglycans in the vacuolar myopathies and centronuclear myopathy. (10417791)
1999
31
Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy. (7539316)
1995
32
Distal vacuolar myopathy in nephropathic cystinosis. (8109899)
1994
33
Vacuolar myopathy sparing the quadriceps. (8453459)
1993
34
Adult-onset, autosomal dominant, rimmed vacuolar myopathy with limb-girdle distribution--a preliminary report. (1364224)
1992
35
Distal vacuolar myopathy with complete heart block. (3369979)
1988
36
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. (3587632)
1987
37
Vacuolar myopathy with type 2 A fiber atrophy and type 2 B fiber deficiency. A case of childhood form acid alpha-1,4-glucosidase deficiency. (6818487)
1982
38
Selective vacuolar myopathy with atrophy of type II fibers. Occurrence in a childhood case of acid maltase deficiency. (343765)
1978
39
Vacuolar myopathy associated with chloroquine, lupus erythematosus and thymoma. Report of a case with unusual mitochondrial changes and lipid accumulation in muscle. (591993)
1977
40
Hypokalemic vacuolar myopathy of chronic alcoholism. A histological and histochemical study. (849704)
1977
41
Hypokalemic vacuolar myopathy associated with chlorthalidone treatment. (5108572)
1971
42
Potassium deficiency and vacuolar myopathy. (5109441)
1971
43
Regressive vacuolar myopathy in steatorrhea. Electrophysiological and histological study. (5544631)
1971
44
Miscellaneous disorders of muscle. Vacuolar myopathy. (4921529)
1970
45
Vacuolar myopathy in a patient with positive LE cell preparations. (6023056)
1967
46
VACUOLAR MYOPATHY: CLINICAL, HISTOCHEMICAL, AND MICROSCOPIC STUDY. (14295957)
1965
47
VACUOLAR MYOPATHY IN LUPUS ERYTHEMATOSUS. (14222976)
1965
48
VACUOLAR MYOPATHY. (14248801)
1964
49
VACUOLAR MYOPATHY. A CLINICAL AND ELECTRON MICROSCOPIC STUDY. (14272234)
1963
50
Vacuolar myopathy in systemic lupus erythematosus. (13533345)
1958

Genetic Variations for Vacuolar Myopathy

Expression for genes affiliated with Vacuolar Myopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Vacuolar Myopathy

Search GEO for disease gene expression data for Vacuolar Myopathy.

Pathways for genes affiliated with Vacuolar Myopathy

Sources:
30KEGG
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Pathways related to Vacuolar Myopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.7LAMP2, NEU1, GUSB, GAA

Compounds for genes affiliated with Vacuolar Myopathy

Sources:
45Novoseek, 24HMDB, 60Tocris Bioscience, 11DrugBank, 50PharmGKB, 29IUPHAR
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Compounds related to Vacuolar Myopathy according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1neuraminic acid45 2410.6GNE, NEU1
21-deoxynojirimycin45 60 1111.6GAA, NEU1
3n-acetyllactosamine45 2410.5LAMP2, NEU1
44-methylumbelliferone459.5GUSB, NEU1
5glucosamine45 11 2411.4NEU1, GNE
6glutaraldehyde459.3NEU1, SPTB
7sucrose45 11 2410.8CAV3, LAMP2, GAA, DMD
8agarose458.7NEU1, DMD, SPTB
9creatinine458.6CAV3, GAA, DMD, GUSB
10mannose 6-phosphate45 249.4NEU1, GAA, GUSB, MPP2, LAMP2
11glycogen45 249.3MPP2, GAA, DMD, LAMP2, CAV3
12acetylcholine45 50 29 11 2412.2GUSB, NEU1, DMD
13glucose458.2MPP2, GAA, CAV3, SPTB, DMD

GO Terms for genes affiliated with Vacuolar Myopathy

Sources:
16Gene Ontology
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Cellular components related to Vacuolar Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:0423839.3DMD, CAV3
2dystrophin-associated glycoprotein complexGO:0160109.2DMD, CAV3
3lysosomeGO:0057649.0LAMP2, VMA21, NEU1, GAA
4lysosomal membraneGO:0057658.9GAA, NEU1, LAMP2
5cell surfaceGO:0099868.3CAV3, DMD, MPP2, SPTB

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1plasma membrane organizationGO:0070099.6CAV3, SPTB
2nucleus localizationGO:0516479.4DMD, CAV3
3regulation of skeletal muscle contractionGO:0148199.3DMD, CAV3
4cardiac muscle contractionGO:0600489.3DMD, GAA
5muscle cell cellular homeostasisGO:0467169.1CAV3, GAA, DMD
6regulation of heart rateGO:0020279.0DMD, CAV3
7muscle organ developmentGO:0075178.9GAA, DMD, CAV3

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

idNameGO IDScoreTop Affiliating Genes
1nitric-oxide synthase bindingGO:0509989.3DMD, CAV3

Products for genes affiliated with Vacuolar Myopathy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Vacuolar Myopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet