MCID: MYP100
MIFTS: 20

Myopathy, X-Linked, with Excessive Autophagy malady

Rare diseases, Neuronal diseases categories

Aliases & Classifications for Myopathy, X-Linked, with Excessive Autophagy

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
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Myopathy, X-Linked, with Excessive Autophagy, Aliases & Descriptions:

Name: Myopathy, X-Linked, with Excessive Autophagy 45 10 41 60
X-Linked Myopathy with Excessive Autophagy 9 41 47
 
Vacuolar Myopathy 41 47 60
Xmea 9 41 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
x-linked myopathy with excessive autophagy:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM45 310440
Disease Ontology9 DOID:0050760
Orphanet47 25980
ICD10 via Orphanet26 G71.8

Summaries for Myopathy, X-Linked, with Excessive Autophagy

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NIH Rare Diseases:41 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: Myopathy, X-Linked, with Excessive Autophagy, also known as x-linked myopathy with excessive autophagy, is related to myopathy and danon disease, and has symptoms including x-linked recessive inheritance, myotonia and myopathy. An important gene associated with Myopathy, X-Linked, with Excessive Autophagy is VMA21 (VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)).

OMIM:45 Sugie et al. (2005) classified X-linked myopathy with excessive autophagy (XMEA) as a form of autophagic vacuolar... (310440) more...

Related Diseases for Myopathy, X-Linked, with Excessive Autophagy

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

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy11.0
2danon disease10.4
3vacuolar myopathy10.4
4lupus erythematosus10.4
5mental retardation10.4
6dilated cardiomyopathy10.3
7rheumatoid arthritis10.1
8systemic lupus erythematosus10.1
9celiac disease10.1
10arthritis10.1
11hepatitis10.1
12hepatitis c10.1
13cystinosis10.1
14steatorrhea10.1
15inclusion body myositis10.1
16muscular dystrophy10.1
17myositis10.1
18thymoma10.1
19chronic graft versus host disease10.1

Graphical network of diseases related to Myopathy, X-Linked, with Excessive Autophagy:



Diseases related to myopathy, x-linked, with excessive autophagy

Symptoms for Myopathy, X-Linked, with Excessive Autophagy

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Symptoms by clinical synopsis from OMIM:

310440

Clinical features from OMIM:

310440

HPO human phenotypes related to Myopathy, X-Linked, with Excessive Autophagy:

(show all 10)
id Description Frequency HPO Source Accession
1 x-linked recessive inheritance HP:0001419
2 myotonia HP:0002486
3 myopathy HP:0003198
4 amyotrophy HP:0003202
5 elevated serum creatine phosphokinase HP:0003236
6 difficulty climbing stairs HP:0003551
7 slow progression HP:0003677
8 incomplete penetrance HP:0003829
9 proximal muscle weakness in lower limbs HP:0008994
10 difficulty running HP:0009046

Drugs & Therapeutics for Myopathy, X-Linked, with Excessive Autophagy

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Drug clinical trials:

Search ClinicalTrials for Myopathy, X-Linked, with Excessive Autophagy

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

Genetic Tests for Myopathy, X-Linked, with Excessive Autophagy

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Anatomical Context for Myopathy, X-Linked, with Excessive Autophagy

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

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Publications for Myopathy, X-Linked, with Excessive Autophagy

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Variations for Myopathy, X-Linked, with Excessive Autophagy

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

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

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Myopathy, X-Linked, with Excessive Autophagy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet