XMEA
MCID: XLN030
MIFTS: 19

X-Linked Myopathy with Excessive Autophagy (XMEA) malady

Neuronal category

Summaries for X-Linked Myopathy with Excessive Autophagy

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 danon disease and vacuolar myopathy. 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:47 310440

Aliases & Classifications for X-Linked Myopathy with Excessive Autophagy

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 49
myopathy, x-linked, with excessive autophagy 9 43 47 61
xmea 8 43 49
vacuolar myopathy 49 61


External Ids:

Disease Ontology8 DOID:0050760
ICD10 via Orphanet26 G71.8
OMIM47 310440

Related Diseases for X-Linked Myopathy with Excessive Autophagy

Sources:
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 22)
idRelated DiseaseScoreTop Affiliating Genes
1danon disease30.6GAA
2vacuolar myopathy11.0
3mental retardation10.4
4graft versus host disease10.1
5hepatitis c10.1
6centronuclear myopathy10.1
7inclusion body myositis10.1
8systemic lupus erythematosus10.1
9cystinosis10.1
10celiac disease10.1
11steatorrhea10.1
12facioscapulohumeral muscular dystrophy10.1
13arthritis10.1
14thymoma10.1
15myopathy congenital10.1
16chronic graft versus host disease10.1
17nephropathic cystinosis10.1
18myoglobinuria recurrent10.1
19glycogen storage disease ii10.0GAA
20polymyositis10.0GAA
21myopathy10.0GAA
22glycogen 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

Sources:
47OMIM
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Clinical features from OMIM:

310440

Drugs & Therapeutics for X-Linked Myopathy with Excessive Autophagy

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for X-Linked Myopathy with Excessive Autophagy

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

Sources:
28inGenious Targeting Laboratory
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Publications for X-Linked Myopathy with Excessive Autophagy

Genetic Variations for X-Linked Myopathy with Excessive Autophagy

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

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

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

Sources:
45Novoseek
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Compounds related to X-Linked Myopathy with Excessive Autophagy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine459.1HLA-A, GAA

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

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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  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Myopathy with Excessive Autophagy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet