XMEA
MCID: XLN030
MIFTS: 27

X-Linked Myopathy with Excessive Autophagy (XMEA) malady

Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for X-Linked Myopathy with Excessive Autophagy

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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 based summary: 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, 62UMLS, 26ICD10 via Orphanet
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X-Linked Myopathy with Excessive Autophagy, Aliases & Descriptions:

Name: X-Linked Myopathy with Excessive Autophagy 8 42 48
Myopathy, X-Linked, with Excessive Autophagy 9 42 46 62
 
Xmea 8 42 48
Vacuolar Myopathy 48 62


Classifications:

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


External Ids:

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

Related Diseases for X-Linked Myopathy with Excessive Autophagy

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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
1myopathy31.4GAA
2danon disease30.8GAA
3vacuolar myopathy11.0
4lupus erythematosus10.4
5mental retardation10.4
6dilated cardiomyopathy10.3
7arthritis10.1
8celiac disease10.1
9facioscapulohumeral muscular dystrophy10.1
10graft versus host disease10.1
11hepatitis10.1
12rheumatoid arthritis10.1
13systemic lupus erythematosus10.1
14centronuclear myopathy10.1
15hepatitis c10.1
16cystinosis10.1
17steatorrhea10.1
18inclusion body myositis10.1
19muscular dystrophy10.1
20myositis10.1
21thymoma10.1
22chronic graft versus host disease10.1
23nephropathic cystinosis10.1
24colonic benign neoplasm9.9GAA, 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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Clinical features from OMIM:

310440

Drugs & Therapeutics for X-Linked Myopathy with Excessive Autophagy

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Drug clinical trials:

Search ClinicalTrials for X-Linked Myopathy with Excessive Autophagy

Search NIH Clinical Center 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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Articles related to X-Linked Myopathy with Excessive Autophagy:

idTitleAuthorsYear
1
Late adult-onset of X-linked myopathy with excessive autophagy. (24488655)
2014
2
Elevated urinary I^2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy. (23850239)
2013
3
Fine-mapping the gene for X-linked myopathy with excessive autophagy. (18794500)
2008
4
Case of X-linked myopathy with excessive autophagy. (16901453)
2006
5
Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy. (15753448)
2005
6
Electrophysiological findings in X-linked myopathy with excessive autophagy. (12112116)
2002
7
Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. (12196656)
2002
8
X-linked myopathy with excessive autophagy: a clinicopathological study of five new families. (11369189)
2001
9
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. (10757644)
2000
10
X-linked myopathy with excessive autophagy: a new hereditary muscle disease. (2897824)
1988

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

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

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

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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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  • Lysates

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