MCID: MYP100
MIFTS: 36

Myopathy, X-Linked, with Excessive Autophagy malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

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

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Aliases & Descriptions for Myopathy, X-Linked, with Excessive Autophagy:

Name: Myopathy, X-Linked, with Excessive Autophagy 49 11 45 65 67
X-Linked Myopathy with Excessive Autophagy 10 45 22 12 51
Xmea 10 45 22 51 67
 
Vacuolar Myopathy 51 65
Meax 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
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:

OMIM49 310440
Disease Ontology10 DOID:0050760
Orphanet51 25980
ICD10 via Orphanet28 G71.8
MedGen34 C1839615
MeSH36 D009135

Summaries for Myopathy, X-Linked, with Excessive Autophagy

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OMIM:49 X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by... (310440) more...

MalaCards based summary: Myopathy, X-Linked, with Excessive Autophagy, also known as x-linked myopathy with excessive autophagy, is related to muscular dystrophy and myopathy, 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)), and among its related pathways are Ion transport by P-type ATPases and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include skeletal muscle and heart, and related mouse phenotypes are muscle and cardiovascular system.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Myopathy, X-linked, with excessive autophagy: A muscle disorder characterized by childhood early onset of a slowly progressive proximal limb muscle weakness (especially in legs) and elevation of serum creatine kinase, without evidence of cardiac, respiratory or central nervous system involvement. Histopathological analysis reveals diseased muscle fibers that are not necrotic, but show abnormal autophagic vacuolation as a manifestation of excessive autophagic activity in skeletal muscle cells.

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 top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy30.0DES, DMD, EMD
2myopathy11.0
3danon disease10.4
4cardiomyopathy10.4
5lupus erythematosus10.4
6dilated cardiomyopathy10.3
7lysosomal acid phosphatase deficiency10.3GAA, LAMP2
8salla disease10.2GNE, LAMP2
9infantile-onset ascending hereditary spastic paralysis10.2DES, GNE
10trichothiodystrophy 5, nonphotosensitive10.2GAA, LAMP2, VMA21
11arteriosclerosis obliterans10.2DNAH8, GNE
12ancylostomiasis10.2ATP12A, ATP4A
13meningeal melanomatosis10.2ATP12A, ATP4A
14bladder clear cell adenocarcinoma10.2ATP12A, ATP4A
15bladder leiomyoma10.2ATP12A, ATP4A
16anal gland adenocarcinoma10.2ATP12A, ATP4A
17exanthema subitum10.2ATP12A, ATP4A
18lung superior sulcus carcinoma10.2ATP12A, ATP4A
19acute myocarditis10.2ATP12A, ATP4A
20cervix erosion10.2ATP12A, ATP4A
21lymph node tuberculosis10.2ATP12A, ATP4A
22segmental dystonia10.2ATP12A, ATP4A
23rheumatoid arthritis10.1
24systemic lupus erythematosus10.1
25myopathy, vacuolar, with casq1 aggregates10.1
26celiac disease10.1
27arthritis10.1
28hepatitis10.1
29cystinosis10.1
30hepatitis c10.1
31steatorrhea10.1
32inclusion body myositis10.1
33myositis10.1
34thymoma10.1
35chronic graft versus host disease10.1
36lung adenoma10.1ATP12A, ATP4A
37hyperlipoproteinemia type iv10.1ATP12A, ATP4A
38necrotizing gastritis10.1ATP12A, ATP4A
39d ercole syndrome10.1DES, DMD
40hidradenitis10.1ATP12A, ATP4A
41enterobiasis10.1ATP12A, ATP4A
42muscular dystrophy, rigid spine, 110.1DMD, GAA
43diarrhea 1, secretory chloride, congenital10.1ATP12A, ATP4A
44infiltrating bladder urothelial carcinoma sarcomatoid variant10.1ATP12A, ATP4A
45collagenous colitis10.1ATP12A, ATP4A
46vaginal mullerian papilloma10.1ATP12A, ATP4A
47eosinophilic gastroenteritis10.1ATP12A, ATP4A
48esophagus sarcoma10.1ATP12A, ATP4A
49mucocele of appendix10.1ATP12A, ATP4A
50functioning pituitary adenoma10.1ATP12A, ATP4A

Graphical network of the top 20 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 skeletal muscle atrophy 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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Interventional clinical trials:

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

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

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Genetic tests related to Myopathy, X-Linked, with Excessive Autophagy:

id Genetic test Affiliating Genes
1 X-Linked Myopathy with Excessive Autophagy22 VMA21

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

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MalaCards organs/tissues related to Myopathy, X-Linked, with Excessive Autophagy:

33
Skeletal muscle, Heart

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

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MGI Mouse Phenotypes related to Myopathy, X-Linked, with Excessive Autophagy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.6DES, DMD, EMD, GAA, GNE, LAMA2
2MP:00053857.2B2M, DES, DMD, EMD, GAA, GNE
3MP:00053766.3ATP12A, ATP4A, B2M, DES, DMD, GAA

Publications for Myopathy, X-Linked, with Excessive Autophagy

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Variations for Myopathy, X-Linked, with Excessive Autophagy

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Clinvar genetic disease variations for Myopathy, X-Linked, with Excessive Autophagy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1VMA21VMA21, IVS1, A-C, -27single nucleotide variantPathogenic
2VMA21VMA21, IVS1, A-T, -27single nucleotide variantPathogenic
3VMA21VMA21, IVS2, A-G, +4single nucleotide variantPathogenic
4VMA21VMA21, IVS2, T-G, -7single nucleotide variantPathogenic
5VMA21VMA21, 272G-Csingle nucleotide variantPathogenic
6VMA21VMA21, TER+6, A-Gsingle nucleotide variantPathogenic
7VMA21VMA21, IVS2, T-G, -6single nucleotide variantPathogenic
8VMA21VMA21, 92-BP DEL, NT13deletionPathogenic
9VMA21VMA21, 9-BP DEL, NT54deletionPathogenic

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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Pathways related to Myopathy, X-Linked, with Excessive Autophagy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ATP12A, ATP4A
29.3DMD, LAMA2
3
Show member pathways
8.6DES, DMD, EMD, LAMA2

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

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Cellular components related to Myopathy, X-Linked, with Excessive Autophagy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:00057649.3GAA, LAMP2, VMA21
2sarcolemmaGO:00423839.0DES, DMD, LAMA2

Biological processes related to Myopathy, X-Linked, with Excessive Autophagy according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cellular sodium ion homeostasisGO:00068839.9ATP12A, ATP4A
2potassium ion importGO:00101079.9ATP12A, ATP4A
3sodium ion export from cellGO:00363769.9ATP12A, ATP4A
4ATP hydrolysis coupled proton transportGO:00159919.9ATP12A, ATP4A
5cellular potassium ion homeostasisGO:00300079.9ATP12A, ATP4A
6cardiac muscle contractionGO:00600489.6DMD, GAA
7muscle filament slidingGO:00300499.4DES, DMD
8muscle cell cellular homeostasisGO:00467169.3DMD, GAA
9muscle organ developmentGO:00075178.9DMD, EMD, LAMA2

Molecular functions related to Myopathy, X-Linked, with Excessive Autophagy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hydrogen:potassium-exchanging ATPase activityGO:00089009.8ATP12A, ATP4A
2hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00045539.8GAA, GNE
3sodium:potassium-exchanging ATPase activityGO:00053919.6ATP12A, ATP4A

Sources for Myopathy, X-Linked, with Excessive Autophagy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet