XMEA
MCID: XLN030
MIFTS: 26

X-Linked Myopathy with Excessive Autophagy (XMEA) malady

Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for X-Linked Myopathy with Excessive Autophagy

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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:48 310440

Aliases & Classifications for X-Linked Myopathy with Excessive Autophagy

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Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

50
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 9 44 50
myopathy, x-linked, with excessive autophagy 10 44 48 63
xmea 9 44 50
vacuolar myopathy 50 63


External Ids:

Disease Ontology9 DOID:0050760
ICD10 via Orphanet27 G71.8
OMIM48 310440

Related Diseases for X-Linked Myopathy with Excessive Autophagy

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18GeneCards, 19GeneDecks
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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
1myopathy31.1GAA
2danon disease30.7GAA
3vacuolar myopathy11.0
4lupus erythematosus10.4
5mental retardation10.4
6dilated cardiomyopathy10.3
7graft versus host disease10.1
8hepatitis c10.1
9cystinosis10.1
10celiac disease10.1
11steatorrhea10.1
12facioscapulohumeral muscular dystrophy10.1
13centronuclear myopathy10.1
14inclusion body myositis10.1
15systemic lupus erythematosus10.1
16arthritis10.1
17hepatitis10.1
18muscular dystrophy10.1
19myositis10.1
20rheumatoid arthritis10.1
21thymoma10.1
22chronic graft versus host disease10.1
23nephropathic cystinosis10.1
24colon cancer10.0GAA, HLA-A

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



Diseases related to x-linked myopathy with excessive autophagy

Symptoms for X-Linked Myopathy with Excessive Autophagy

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Sources:
48OMIM
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Clinical features from OMIM:

310440

Drugs & Therapeutics for X-Linked Myopathy with Excessive Autophagy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Sources:
53PubMed
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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

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:
2BioGPS, 16Gene 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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46Novoseek
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Compounds related to X-Linked Myopathy with Excessive Autophagy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine469.1GAA, HLA-A

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

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Sources:
17Gene Ontology
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Cellular components related to X-Linked Myopathy with Excessive Autophagy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.0GAA, VMA21

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

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  • Antibodies
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Sources for X-Linked Myopathy with Excessive Autophagy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet