Aliases & Classifications for Vacuolar Myopathy

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Vacuolar Myopathy, Aliases & Descriptions:

Name: Vacuolar Myopathy 41 60
Autophagic Vacuolar Myopathy 41
 
Avm 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Summaries for Vacuolar Myopathy

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NIH Rare Diseases:41 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 based summary: 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.

Related Diseases for Vacuolar Myopathy

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Diseases related to Vacuolar Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.2LAMP2, GAA, MPP2, DMD
2danon disease30.6MPP2, LAMP2, GAA
3dilated cardiomyopathy30.4DMD, LAMP2
4muscular dystrophy30.3DMD, GAA
5mental retardation29.7DMD, GUSB, MPP2, LAMP2, GAA
6arteriovenous malformation10.6
7intracranial arteriovenous malformation10.5
8myopathy, x-linked, with excessive autophagy10.4
9extracranial arteriovenous malformation10.4
10lupus erythematosus10.4
11capillary malformation-arteriovenous malformation10.3
12hereditary hemorrhagic telangiectasia10.3
13wyburn mason's syndrome10.3
14lysosomal acid phosphatase deficiency10.2LAMP2, GAA
15pulmonary arteriovenous malformation10.2
16aneurysm10.2
17hypertrophic cardiomyopathy10.2GAA, LAMP2
18facioscapulohumeral muscular dystrophy 110.2GAA, DMD
19muscular dystrophy, rigid spine, 110.2DMD, GAA
20distal muscular dystrophy10.2DMD, GAA
21myopathy congenital10.1DMD, GAA
22rheumatoid arthritis10.1
23systemic lupus erythematosus10.1
24celiac disease10.1
25arthritis10.1
26hepatitis10.1
27hepatitis c10.1
28cystinosis10.1
29steatorrhea10.1
30inclusion body myositis10.1
31myositis10.1
32thymoma10.1
33chronic graft versus host disease10.1
34limb-girdle muscular dystrophy10.1GAA, DMD
35spinal muscular atrophy10.1GAA, DMD
36telangiectasia, hereditary hemorrhagic, type 510.1
37hydrocephalus10.1
38trigeminal neuralgia10.1
39pancreatitis10.1
40cobb syndrome10.1
41neuromuscular disease10.1GAA, DMD
42duchenne muscular dystrophy10.1DMD, GAA
43myotonic dystrophy10.1GAA, DMD
44dermatomyositis10.1GAA, DMD
45polymyositis10.1DMD, GAA
46intellectual disability multi-gene panels10.1LAMP2, DMD
47tetanus10.0NEU1, MPP2
48fabry disease10.0GUSB, GAA
49mucopolysaccharidosis10.0GUSB, GAA
50glycogen storage disease ii10.0GAA, LAMP2, DMD

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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Drug clinical trials:

Search ClinicalTrials for Vacuolar Myopathy

Search NIH Clinical Center for Vacuolar Myopathy

Genetic Tests for Vacuolar Myopathy

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Anatomical Context for Vacuolar Myopathy

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MalaCards organs/tissues related to Vacuolar Myopathy:

31
Heart, Skeletal muscle

Animal Models for Vacuolar Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Vacuolar Myopathy:

35
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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Articles related to Vacuolar Myopathy:

(show top 50)    (show all 57)
idTitleAuthorsYear
1
Novel CLN3 mutation causing autophagic vacuolar myopathy. (25666632)
2015
2
Novel CLN3 mutation causing autophagic vacuolar myopathy. (24827497)
2014
3
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates. (25116801)
2014
4
Vacuolar myopathy in an adult Warmblood horse. (23623568)
2013
5
Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease. (23630012)
2013
6
Juvenile autophagic vacuolar myopathy - a new entity or variant? (23324055)
2013
7
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. (23315026)
2013
8
Teaching neuroimages: hydroxychloroquine-induced vacuolar myopathy. (23733558)
2013
9
DNAJB6 Myopathy: A vacuolar myopathy with childhood onset. (24170373)
2013
10
Minocycline-associated rimmed vacuolar myopathy in a patient with rheumatoid arthritis. (23171360)
2012
11
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. (20146070)
2010
12
Necrotizing vacuolar myopathy presenting with recurrent myoglobinuria. (20942590)
2010
13
Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies]. (20120346)
2010
14
An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus. (19243213)
2009
15
Vacuolar myopathy in a dog resembling human sporadic inclusion body myositis. (19718499)
2009
16
Acetazolamide prevents vacuolar myopathy in skeletal muscle of K(+) -depleted rats. (18345024)
2008
17
An Autophagic Vacuolar Myopathy-Like Disorder Presenting as Non-Immune Hydrops in a Female Fetus. (18338936)
2008
18
Danon disease as a cause of autophagic vacuolar myopathy. (18377432)
2007
19
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy. (17541230)
2007
20
Autophagic vacuolar myopathy in twin girls. (16640643)
2006
21
Autophagic vacuolar myopathy. (17027858)
2006
22
A case of vacuolar myopathy during the course of chronic hepatitis C. (17049137)
2006
23
Reversible inflammatory and vacuolar myopathy with vitamin E deficiency in celiac disease. (15389648)
2005
24
A new congenital form of X-linked autophagic vacuolar myopathy. (16217076)
2005
25
Hydroxychloroquine causes severe vacuolar myopathy in a patient with chronic graft-versus-host disease. (15795921)
2005
26
A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement. (12847175)
2003
27
Colchicine myopathy: a vacuolar myopathy with selective type I muscle fiber involvement. An immunohistochemical and electron microscopic study of two cases. (11810174)
2002
28
Hitherto undescribed venous vacuolar myopathy without mucoid degeneration in the varicose saphenous vein of a child. (11284094)
2001
29
Infantile autophagic vacuolar myopathy is distinct from Danon disease. (11552028)
2001
30
X-linked vacuolar myopathies: two separate loci and refined genetic mapping. (10805342)
2000
31
Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy. (7539316)
1995
32
Distal vacuolar myopathy in nephropathic cystinosis. (8109899)
1994
33
Localization of dystrophin and beta-spectrin in vacuolar myopathies. (8214011)
1993
34
Vacuolar myopathy sparing the quadriceps. (8453459)
1993
35
Adult-onset, autosomal dominant, rimmed vacuolar myopathy with limb-girdle distribution--a preliminary report. (1364224)
1992
36
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head. (1795162)
1991
37
Distal vacuolar myopathy with complete heart block. (3369979)
1988
38
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. (3587632)
1987
39
Selective vacuolar myopathy with atrophy of type II fibers. Occurrence in a childhood case of acid maltase deficiency. (343765)
1978
40
Vacuolar myopathy associated with chloroquine, lupus erythematosus and thymoma. Report of a case with unusual mitochondrial changes and lipid accumulation in muscle. (591993)
1977
41
Hypokalemic vacuolar myopathy of chronic alcoholism. A histological and histochemical study. (849704)
1977
42
Hypokalemic vacuolar myopathy associated with chlorthalidone treatment. (5108572)
1971
43
Potassium deficiency and vacuolar myopathy. (5109441)
1971
44
Regressive vacuolar myopathy in steatorrhea. Electrophysiological and histological study. (5544631)
1971
45
Miscellaneous disorders of muscle. Vacuolar myopathy. (4921529)
1970
46
Vacuolar myopathy in a patient with positive LE cell preparations. (6023056)
1967
47
VACUOLAR MYOPATHY: CLINICAL, HISTOCHEMICAL, AND MICROSCOPIC STUDY. (14295957)
1965
48
VACUOLAR MYOPATHY IN LUPUS ERYTHEMATOSUS. (14222976)
1965
49
VACUOLAR MYOPATHY. (14248801)
1964
50
VACUOLAR MYOPATHY. A CLINICAL AND ELECTRON MICROSCOPIC STUDY. (14272234)
1963

Variations for Vacuolar Myopathy

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Expression for genes affiliated with Vacuolar Myopathy

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Search GEO for disease gene expression data for Vacuolar Myopathy.

Pathways for genes affiliated with Vacuolar Myopathy

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Pathways related to Vacuolar Myopathy according to GeneCards Suite gene sharing:

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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Compounds related to Vacuolar Myopathy according to GeneCards Suite gene sharing:

(show all 16)
idCompoundScoreTop Affiliating Genes
1n-acetyllactosamine43 2410.8NEU1, LAMP2
21-deoxynojirimycin59 43 1211.8GAA, NEU1
34-methylumbelliferone439.6NEU1, GUSB
4daunorubicin43 49 1211.4NEU1, GUSB
5zidovudine43 49 1211.4GUSB, NEU1
6carbohydrates439.2GAA, NEU1
7succinate439.2GUSB, DMD
8agarose439.1NEU1, DMD
9gold439.1DMD, GAA
10sucrose43 24 1211.1DMD, LAMP2, GAA
11Water248.9GAA, NEU1, GUSB
12creatinine438.8DMD, GUSB, GAA
13acetylcholine43 49 28 24 1212.8NEU1, GUSB, DMD
14heparin43 28 24 1211.7NEU1, GUSB, DMD
15glycogen43 249.6DMD, MPP2, LAMP2, GAA
16mannose 6-phosphate43 249.2GAA, NEU1, LAMP2, MPP2, GUSB

GO Terms for genes affiliated with Vacuolar Myopathy

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Cellular components related to Vacuolar Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.3NEU1, GUSB
2lysosomal membraneGO:00057659.0LAMP2, NEU1, GAA
3lysosomeGO:00057648.7GAA, NEU1, LAMP2, VMA21
4extracellular vesicular exosomeGO:00700628.2GAA, NEU1, LAMP2, GUSB

Biological processes related to Vacuolar Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.2GAA, DMD
2cardiac muscle contractionGO:00600488.9GAA, DMD

Products for genes affiliated with Vacuolar Myopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Vacuolar Myopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet