AVM
MCID: VCL001
MIFTS: 38

Vacuolar Myopathy (AVM) malady

Rare diseases category
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Summaries for Vacuolar Myopathy

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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 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.

Aliases & Classifications for Vacuolar Myopathy

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Vacuolar Myopathy, Aliases & Descriptions:

Name: Vacuolar Myopathy 42 62
Autophagic Vacuolar Myopathy 42 62
 
Avm 42


Classifications:

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


Related Diseases for Vacuolar Myopathy

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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
1myopathy31.2GAA, LAMP2, MPP2, DMD
2danon disease30.6GAA, LAMP2, MPP2
3facioscapulohumeral muscular dystrophy30.5DMD, GAA
4dilated cardiomyopathy30.4LAMP2, DMD
5muscular dystrophy30.3DMD, GAA
6mental retardation29.7DMD, GUSB, MPP2, LAMP2, GAA
7arteriovenous malformation10.6
8intracranial arteriovenous malformation10.5
9extracranial arteriovenous malformation10.4
10lupus erythematosus10.4
11capillary malformation-arteriovenous malformation syndrome10.3
12x-linked myopathy with excessive autophagy10.3
13hereditary hemorrhagic telangiectasia10.3
14wyburn mason's syndrome10.3
15pulmonary arteriovenous malformation10.2
16aneurysm10.2
17lysosomal acid phosphatase deficiency10.2LAMP2, GAA
18hypertrophic cardiomyopathy10.2LAMP2, GAA
19rigid spine syndrome10.2GAA, DMD
20distal muscular dystrophy10.2GAA, DMD
21myopathy congenital10.1GAA, DMD
22limb-girdle muscular dystrophy10.1DMD, GAA
23spinal muscular atrophy10.1GAA, DMD
24arthritis10.1
25celiac disease10.1
26graft versus host disease10.1
27hepatitis10.1
28rheumatoid arthritis10.1
29systemic lupus erythematosus10.1
30centronuclear myopathy10.1
31hepatitis c10.1
32cystinosis10.1
33steatorrhea10.1
34inclusion body myositis10.1
35myositis10.1
36thymoma10.1
37chronic graft versus host disease10.1
38nephropathic cystinosis10.1
39hydrocephalus10.1
40trigeminal neuralgia10.1
41pancreatitis10.1
42cobb syndrome10.1
43telangiectasia, hereditary hemorrhagic, type 510.1
44neuromuscular disease10.1GAA, DMD
45duchenne muscular dystrophy10.1GAA, DMD
46dermatomyositis10.1DMD, GAA
47myotonic dystrophy10.1DMD, GAA
48polymyositis10.1GAA, DMD
49intellectual disability multi-gene panels10.1LAMP2, DMD
50tetanus10.0MPP2, NEU1

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:

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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:

32
Heart, Skeletal muscle

Animal Models for Vacuolar Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Vacuolar Myopathy:

36
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 55)
idTitleAuthorsYear
1
Novel CLN3 mutation causing autophagic vacuolar myopathy. (24827497)
2014
2
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates. (25116801)
2014
3
Vacuolar myopathy in an adult Warmblood horse. (23623568)
2013
4
Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease. (23630012)
2013
5
Juvenile autophagic vacuolar myopathy - a new entity or variant? (23324055)
2013
6
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. (23315026)
2013
7
Teaching neuroimages: hydroxychloroquine-induced vacuolar myopathy. (23733558)
2013
8
DNAJB6 Myopathy: A vacuolar myopathy with childhood onset. (24170373)
2013
9
Minocycline-associated rimmed vacuolar myopathy in a patient with rheumatoid arthritis. (23171360)
2012
10
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. (20146070)
2010
11
Necrotizing vacuolar myopathy presenting with recurrent myoglobinuria. (20942590)
2010
12
Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies]. (20120346)
2010
13
An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus. (19243213)
2009
14
Vacuolar myopathy in a dog resembling human sporadic inclusion body myositis. (19718499)
2009
15
Acetazolamide prevents vacuolar myopathy in skeletal muscle of K(+) -depleted rats. (18345024)
2008
16
An Autophagic Vacuolar Myopathy-Like Disorder Presenting as Non-Immune Hydrops in a Female Fetus. (18338936)
2008
17
Danon disease as a cause of autophagic vacuolar myopathy. (18377432)
2007
18
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy. (17541230)
2007
19
Autophagic vacuolar myopathy in twin girls. (16640643)
2006
20
Autophagic vacuolar myopathy. (17027858)
2006
21
A case of vacuolar myopathy during the course of chronic hepatitis C. (17049137)
2006
22
Reversible inflammatory and vacuolar myopathy with vitamin E deficiency in celiac disease. (15389648)
2005
23
A new congenital form of X-linked autophagic vacuolar myopathy. (16217076)
2005
24
Hydroxychloroquine causes severe vacuolar myopathy in a patient with chronic graft-versus-host disease. (15795921)
2005
25
A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement. (12847175)
2003
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
X-linked vacuolar myopathies: two separate loci and refined genetic mapping. (10805342)
2000
30
Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy. (7539316)
1995
31
Distal vacuolar myopathy in nephropathic cystinosis. (8109899)
1994
32
Localization of dystrophin and beta-spectrin in vacuolar myopathies. (8214011)
1993
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
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head. (1795162)
1991
36
Distal vacuolar myopathy with complete heart block. (3369979)
1988
37
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. (3587632)
1987
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

Variations for Vacuolar Myopathy

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Expression for genes affiliated with Vacuolar Myopathy

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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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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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Compounds related to Vacuolar Myopathy according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1n-acetyllactosamine44 2410.8NEU1, LAMP2
21-deoxynojirimycin61 44 1111.8GAA, NEU1
34-methylumbelliferone449.6NEU1, GUSB
4daunorubicin44 50 1111.4NEU1, GUSB
5zidovudine44 50 1111.4GUSB, NEU1
6carbohydrates449.2GAA, NEU1
7succinate449.2GUSB, DMD
8agarose449.1NEU1, DMD
9gold449.1DMD, GAA
10sucrose44 24 1111.1DMD, LAMP2, GAA
11Water248.9GAA, NEU1, GUSB
12creatinine448.8DMD, GUSB, GAA
13acetylcholine44 50 28 24 1112.8NEU1, GUSB, DMD
14heparin44 28 24 1111.7NEU1, GUSB, DMD
15glycogen44 249.6DMD, MPP2, LAMP2, GAA
16mannose 6-phosphate44 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/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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet