AVM
MCID: VCL001
MIFTS: 30

Vacuolar Myopathy (AVM) malady

Summaries for Vacuolar Myopathy

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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 myopathy and danon disease. 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, and related mouse phenotypes are skeleton and renal/urinary system.

Aliases & Classifications for Vacuolar Myopathy

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42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

vacuolar myopathy 42 60
autophagic vacuolar myopathy 42
avm 42


Related Diseases for Vacuolar Myopathy

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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 75)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.3DMD, LAMP2, SPTB, GAA, GNE, MPP2
2danon disease30.4GAA, MPP2, LAMP2
3dilated cardiomyopathy30.3LAMP2, DMD
4centronuclear myopathy30.1DMD
5facioscapulohumeral muscular dystrophy30.1DMD, GAA
6myositis30.1DMD, SPTB
7muscular dystrophy30.1CAV3, GNE, GAA, DMD
8arteriovenous malformation10.5
9intracranial arteriovenous malformation10.4
10extracranial arteriovenous malformation10.4
11lupus erythematosus10.3
12x-linked myopathy with excessive autophagy10.2
13hereditary hemorrhagic telangiectasia10.2
14wyburn mason's syndrome10.2
15capillary malformation-arteriovenous malformation syndrome10.2
16graft versus host disease10.1
17hepatitis c10.1
18inclusion body myositis10.1
19systemic lupus erythematosus10.1
20cystinosis10.1
21celiac disease10.1
22steatorrhea10.1
23hepatitis a10.1
24arthritis10.1
25hepatitis10.1
26rheumatoid arthritis10.1
27thymoma10.1
28trigeminal neuralgia10.1
29hydrocephalus10.1
30pancreatitis10.1
31cobb syndrome10.1
32telangiectasia, hereditary hemorrhagic, type 510.1
33gaucher's disease10.0GAA
34glycogen storage disease ii10.0GAA
35rippling muscle disease10.0CAV3
36duchenne muscular dystrophy10.0DMD
37sialuria10.0GNE
38hypertrophic cardiomyopathy10.0LAMP2, GAA
39dystrophinopathies10.0DMD
40gas gangrene10.0DMD
41lysosomal acid phosphatase deficiency10.0GAA, LAMP2
42chediak-higashi syndrome10.0GUSB
43rigid spine syndrome10.0GAA, DMD
44tuberculosis10.0GUSB
45limb-girdle muscular dystrophy, type 2b10.0DMD, CAV3
46myopathy congenital10.0GAA, DMD
47calpainopathy10.0DMD, CAV3
48becker muscular dystrophy10.0DMD, SPTB
49spinal muscular atrophy10.0DMD, GAA
50limb-girdle muscular dystrophy10.0DMD, CAV3

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



Diseases related to vacuolar myopathy

Clinical Features for Vacuolar Myopathy

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Drugs & Therapeutics for Vacuolar Myopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Vacuolar Myopathy

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Anatomical Context for Vacuolar Myopathy

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32MalaCards
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MalaCards organs/tissues related to Vacuolar Myopathy:

32
Heart

Animal Models for Vacuolar Myopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Vacuolar Myopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.7GAA, GUSB, DMD, NEU1, LAMP2
2MP:00053677.7GNE, GUSB, DMD, NEU1, SPTB
3MP:00053697.7CAV3, GNE, GAA, DMD, NEU1, LAMP2
4MP:00053847.5LAMP2, NEU1, DMD, GUSB, GAA, CAV3
5MP:00053857.3SPTB, CAV3, GNE, GAA, DMD, NEU1
6MP:00053877.2CAV3, GNE, DMD, NEU1, LAMP2, SPTB
7MP:00053787.0GNE, GAA, GUSB, DMD, NEU1, LAMP2
8MP:00053766.7CAV3, GNE, GAA, GUSB, DMD, NEU1

Publications for Vacuolar Myopathy

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Genetic Variations for Vacuolar Myopathy

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Expression for genes affiliated with Vacuolar Myopathy

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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

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29KEGG
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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

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Sources:
44Novoseek, 24HMDB, 59Tocris Bioscience, 11DrugBank, 49PharmGKB, 28IUPHAR
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Compounds related to Vacuolar Myopathy according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1neuraminic acid44 2410.6GNE, NEU1
21-deoxynojirimycin44 59 1111.6GAA, NEU1
3n-acetyllactosamine44 2410.5LAMP2, NEU1
44-methylumbelliferone449.5NEU1, GUSB
5glucosamine44 11 2411.4NEU1, GNE
6glutaraldehyde449.3SPTB, NEU1
7sucrose44 11 2410.8LAMP2, DMD, GAA, CAV3
8agarose448.7SPTB, NEU1, DMD
9creatinine448.6CAV3, GAA, GUSB, DMD
10mannose 6-phosphate44 249.4LAMP2, NEU1, MPP2, GUSB, GAA
11glycogen44 249.3CAV3, GAA, DMD, MPP2, LAMP2
12acetylcholine44 49 28 11 2412.2GUSB, DMD, NEU1
13glucose448.2CAV3, GAA, DMD, MPP2, SPTB

GO Terms for genes affiliated with Vacuolar Myopathy

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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:0070099.6SPTB, CAV3
2regulation of skeletal muscle contractionGO:0148199.4DMD, CAV3
3nucleus localizationGO:0516479.3DMD, CAV3
4cardiac muscle contractionGO:0600489.3DMD, GAA
5muscle cell cellular homeostasisGO:0467169.1DMD, GAA, CAV3
6regulation of heart rateGO:0020279.0DMD, CAV3
7muscle organ developmentGO:0075178.9CAV3, GAA, DMD

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Vacuolar 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet