AVM
MCID: VCL001
MIFTS: 38

Vacuolar Myopathy (AVM) malady

Rare diseases category
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Summaries for Vacuolar Myopathy

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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 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 are Glucuronidation and Lysosome. The compounds n-acetyllactosamine and 1-deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related mouse phenotypes are muscle and cardiovascular system.

Aliases & Classifications for Vacuolar Myopathy

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43NIH Rare Diseases, 62UMLS
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Classifications:

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Global: Rare diseases


Aliases & Descriptions:

vacuolar myopathy 43 62
autophagic vacuolar myopathy 43
avm 43


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 74)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.4LAMP2, GAA, MPP2, DMD
2danon disease30.5MPP2, LAMP2, GAA
3dilated cardiomyopathy30.4DMD, LAMP2
4mental retardation30.3DMD, GUSB, MPP2, LAMP2, GAA
5facioscapulohumeral muscular dystrophy30.2GAA, DMD
6muscular dystrophy30.2DMD, GAA
7arteriovenous malformation10.6
8intracranial arteriovenous malformation10.5
9extracranial arteriovenous malformation10.4
10lupus erythematosus10.4
11x-linked myopathy with excessive autophagy10.3
12hereditary hemorrhagic telangiectasia10.3
13wyburn mason's syndrome10.3
14capillary malformation-arteriovenous malformation syndrome10.2
15pulmonary arteriovenous malformation10.2
16aneurysm10.2
17graft versus host disease10.1
18hepatitis c10.1
19cystinosis10.1
20celiac disease10.1
21steatorrhea10.1
22centronuclear myopathy10.1
23inclusion body myositis10.1
24systemic lupus erythematosus10.1
25arthritis10.1
26hepatitis10.1
27myositis10.1
28rheumatoid arthritis10.1
29thymoma10.1
30chronic graft versus host disease10.1
31nephropathic cystinosis10.1
32trigeminal neuralgia10.1
33hydrocephalus10.1
34pancreatitis10.1
35cobb syndrome10.1
36telangiectasia, hereditary hemorrhagic, type 510.1
37lysosomal acid phosphatase deficiency10.1LAMP2, GAA
38hypertrophic cardiomyopathy10.0GAA, LAMP2
39rigid spine syndrome10.0DMD, GAA
40distal muscular dystrophy10.0DMD, GAA
41myopathy congenital10.0DMD, GAA
42limb-girdle muscular dystrophy10.0GAA, DMD
43spinal muscular atrophy10.0GAA, DMD
44neuromuscular disease10.0GAA, DMD
45duchenne muscular dystrophy10.0DMD, GAA
46myotonic dystrophy10.0GAA, DMD
47dermatomyositis10.0GAA, DMD
48polymyositis10.0DMD, GAA
49intellectual disability10.0LAMP2, DMD
50tetanus10.0NEU1, MPP2

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



Diseases related to vacuolar myopathy

Symptoms for Vacuolar Myopathy

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Drugs & Therapeutics for Vacuolar Myopathy

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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Vacuolar Myopathy:

33
Heart, Skeletal muscle

Animal Models for Vacuolar Myopathy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Vacuolar Myopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3GAA, NEU1, LAMP2, DMD
2MP:00053858.3GAA, NEU1, LAMP2, DMD
3MP:00053907.8GAA, NEU1, LAMP2, GUSB, DMD
4MP:00053847.7DMD, GUSB, LAMP2, NEU1, GAA
5MP:00053787.5DMD, GUSB, LAMP2, NEU1, GAA
6MP:00053767.3DMD, GUSB, LAMP2, NEU1, GAA

Publications for Vacuolar Myopathy

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52PubMed
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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
Minocycline-associated rimmed vacuolar myopathy in a patient with rheumatoid arthritis. (23171360)
2012
8
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. (20146070)
2010
9
Necrotizing vacuolar myopathy presenting with recurrent myoglobinuria. (20942590)
2010
10
Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies]. (20120346)
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
Autophagic vacuolar myopathy in twin girls. (16640643)
2006
18
Autophagic vacuolar myopathy. (17027858)
2006
19
A case of vacuolar myopathy during the course of chronic hepatitis C. (17049137)
2006
20
Reversible inflammatory and vacuolar myopathy with vitamin E deficiency in celiac disease. (15389648)
2005
21
A new congenital form of X-linked autophagic vacuolar myopathy. (16217076)
2005
22
Hydroxychloroquine causes severe vacuolar myopathy in a patient with chronic graft-versus-host disease. (15795921)
2005
23
A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement. (12847175)
2003
24
Autophagic vacuolar myopathies. (12507414)
2003
25
Colchicine myopathy: a vacuolar myopathy with selective type I muscle fiber involvement. An immunohistochemical and electron microscopic study of two cases. (11810174)
2002
26
Hitherto undescribed venous vacuolar myopathy without mucoid degeneration in the varicose saphenous vein of a child. (11284094)
2001
27
Infantile autophagic vacuolar myopathy is distinct from Danon disease. (11552028)
2001
28
X-linked vacuolar myopathies: two separate loci and refined genetic mapping. (10805342)
2000
29
Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy. (7539316)
1995
30
Distal vacuolar myopathy in nephropathic cystinosis. (8109899)
1994
31
Localization of dystrophin and beta-spectrin in vacuolar myopathies. (8214011)
1993
32
Vacuolar myopathy sparing the quadriceps. (8453459)
1993
33
Adult-onset, autosomal dominant, rimmed vacuolar myopathy with limb-girdle distribution--a preliminary report. (1364224)
1992
34
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head. (1795162)
1991
35
Distal vacuolar myopathy with complete heart block. (3369979)
1988
36
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. (3587632)
1987
37
Selective vacuolar myopathy with atrophy of type II fibers. Occurrence in a childhood case of acid maltase deficiency. (343765)
1978
38
Vacuolar myopathy associated with chloroquine, lupus erythematosus and thymoma. Report of a case with unusual mitochondrial changes and lipid accumulation in muscle. (591993)
1977
39
Hypokalemic vacuolar myopathy of chronic alcoholism. A histological and histochemical study. (849704)
1977
40
Reversible vacuolar myopathy of type II fibers. (1203033)
1975
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

Variations for Vacuolar Myopathy

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Expression for genes affiliated with Vacuolar Myopathy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Vacuolar Myopathy

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Pathways for genes affiliated with Vacuolar Myopathy

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50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters
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Pathways related to Vacuolar Myopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4GAA, GUSB
28.5GAA, NEU1, LAMP2, GUSB

Compounds for genes affiliated with Vacuolar Myopathy

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45Novoseek, 24HMDB, 61Tocris Bioscience, 11DrugBank, 51PharmGKB, 29IUPHAR
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Compounds related to Vacuolar Myopathy according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1n-acetyllactosamine45 2410.8NEU1, LAMP2
21-deoxynojirimycin61 45 1111.8GAA, NEU1
34-methylumbelliferone459.6NEU1, GUSB
4daunorubicin45 51 1111.4NEU1, GUSB
5zidovudine45 51 1111.4GUSB, NEU1
6carbohydrates459.2GAA, NEU1
7succinate459.2GUSB, DMD
8agarose459.1NEU1, DMD
9gold459.1DMD, GAA
10sucrose45 24 1111.1DMD, LAMP2, GAA
11Water248.9GAA, NEU1, GUSB
12creatinine458.8DMD, GUSB, GAA
13acetylcholine45 51 29 24 1112.8NEU1, GUSB, DMD
14heparin45 29 24 1111.7NEU1, GUSB, DMD
15glycogen45 249.6DMD, MPP2, LAMP2, GAA
16mannose 6-phosphate45 249.2GAA, NEU1, LAMP2, MPP2, GUSB

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
1lysosomal lumenGO:0432029.3NEU1, GUSB
2lysosomal membraneGO:0057659.0LAMP2, NEU1, GAA
3lysosomeGO:0057648.7GAA, NEU1, LAMP2, VMA21
4extracellular vesicular exosomeGO:0700628.2GAA, NEU1, LAMP2, GUSB

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

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:0075179.2GAA, DMD
2cardiac muscle contractionGO:0600488.9GAA, DMD

Products for genes affiliated with Vacuolar Myopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Vacuolar Myopathy

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet