XMEA
MCID: XLN030
MIFTS: 24

X-Linked Myopathy with Excessive Autophagy (XMEA) malady

Neuronal diseases category

Summaries for X-Linked Myopathy with Excessive Autophagy

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 X-linked myopathy with excessive autophagy (xmea) is a type of inherited myopathy (muscle disease) that mainly affects males. it is characterized by muscle weakness that slowly worsens over time. weakness involving the upper legs, affecting activities such as running and climbing stairs, may be noticed first. as the condition progresses, men with xmea may experience weakness in their lower legs and arms. some people with xmea remain able to walk in advanced age, while others require assistance in adulthood. it is caused by mutations in the vma21 gene and is inherited in an x-linked recessive fashion. last updated: 10/10/2011

MalaCards: X-Linked Myopathy with Excessive Autophagy, also known as myopathy, x-linked, with excessive autophagy, is related to myopathy and danon disease. An important gene associated with X-Linked Myopathy with Excessive Autophagy is VMA21 (VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)). The compound arginine have been mentioned in the context of this disorder.

Description from OMIM:46 310440

Aliases & Classifications for X-Linked Myopathy with Excessive Autophagy

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
x-linked myopathy with excessive autophagy:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

x-linked myopathy with excessive autophagy 8 42 48
myopathy, x-linked, with excessive autophagy 9 42 46 60
xmea 8 42 48
vacuolar myopathy 48 60


External Ids:

Disease Ontology8 DOID:0050760
ICD10 via Orphanet26 G71.8
OMIM46 310440

Related Diseases for X-Linked Myopathy with Excessive Autophagy

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17GeneCards, 18GeneDecks
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Diseases related to X-Linked Myopathy with Excessive Autophagy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 24)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.0GAA
2danon disease30.5GAA
3vacuolar myopathy10.5
4lupus erythematosus10.3
5dilated cardiomyopathy10.2
6graft versus host disease10.1
7hepatitis c10.1
8centronuclear myopathy10.1
9inclusion body myositis10.1
10systemic lupus erythematosus10.1
11cystinosis10.1
12celiac disease10.1
13steatorrhea10.1
14facioscapulohumeral muscular dystrophy10.1
15hepatitis a10.1
16arthritis10.1
17hepatitis10.1
18muscular dystrophy10.1
19myositis10.1
20rheumatoid arthritis10.1
21thymoma10.1
22glycogen storage disease ii10.0GAA
23polymyositis10.0GAA
24glycogen storage disease10.0GAA

Graphical network of the top 20 diseases related to X-Linked Myopathy with Excessive Autophagy:



Diseases related to x-linked myopathy with excessive autophagy

Clinical Features for X-Linked Myopathy with Excessive Autophagy

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46OMIM
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Clinical features from OMIM:

310440

Drugs & Therapeutics for X-Linked Myopathy with Excessive Autophagy

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

Search CenterWatch for X-Linked Myopathy with Excessive Autophagy

Drug clinical trials:

Search ClinicalTrials for X-Linked Myopathy with Excessive Autophagy

Search NIH Clinical Center for X-Linked Myopathy with Excessive Autophagy

Search CenterWatch for X-Linked Myopathy with Excessive Autophagy

Genetic Tests for X-Linked Myopathy with Excessive Autophagy

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Anatomical Context for X-Linked Myopathy with Excessive Autophagy

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Animal Models for X-Linked Myopathy with Excessive Autophagy or affiliated genes

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Publications for X-Linked Myopathy with Excessive Autophagy

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50PubMed
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Articles related to X-Linked Myopathy with Excessive Autophagy:

idTitleAuthorsYear
1
Elevated urinary I^2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy. (23850239)
2013
2
Case of X-linked myopathy with excessive autophagy. (16901453)
2006
3
X-linked myopathy with excessive autophagy: a clinicopathological study of five new families. (11369189)
2001
4
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. (10757644)
2000

Genetic Variations for X-Linked Myopathy with Excessive Autophagy

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Expression for genes affiliated with X-Linked Myopathy with Excessive Autophagy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with X-Linked Myopathy with Excessive Autophagy

Search GEO for disease gene expression data for X-Linked Myopathy with Excessive Autophagy.

Pathways for genes affiliated with X-Linked Myopathy with Excessive Autophagy

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Compounds for genes affiliated with X-Linked Myopathy with Excessive Autophagy

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44Novoseek
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Compounds related to X-Linked Myopathy with Excessive Autophagy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine449.1HLA-A, GAA

GO Terms for genes affiliated with X-Linked Myopathy with Excessive Autophagy

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Sources:
16Gene Ontology
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Cellular components related to X-Linked Myopathy with Excessive Autophagy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.0VMA21, GAA

Products for genes affiliated with X-Linked Myopathy with Excessive Autophagy

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Sources for X-Linked Myopathy with Excessive Autophagy

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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