MCID: MYP100
MIFTS: 37

Myopathy, X-Linked, with Excessive Autophagy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

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 50 46 23 68 12 66
X-Linked Myopathy with Excessive Autophagy 11 46 23 13 52 25
Xmea 11 46 23 52 68
 
Vacuolar Myopathy 52 66
Meax 68

Characteristics:

Orphanet epidemiological data:

52
x-linked myopathy with excessive autophagy:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
myopathy, x-linked, with excessive autophagy:
Inheritance: x-linked recessive inheritance
Onset and clinical course: slow progression, incomplete penetrance


Classifications:



External Ids:

OMIM50 310440
Disease Ontology11 DOID:0050760
Orphanet52 ORPHA25980
ICD10 via Orphanet29 G71.8
MedGen35 C1839615
MeSH37 D009135

Summaries for Myopathy, X-Linked, with Excessive Autophagy

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OMIM:50 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 myopathy and atrial standstill, digenic, and has symptoms including myotonia, myopathy and skeletal muscle atrophy. 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 Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Hypertrophic cardiomyopathy (HCM). Affiliated tissues include skeletal muscle and heart, and related mouse phenotypes are muscle and cardiovascular system.

NIH Rare Diseases:46 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 begins in childhood that slowly worsens over time. weakness involving the upper legs is typically noticed first, affecting activities such as running and climbing stairs. as the condition progresses, men with xmea may experience weakness in their lower legs and arms. some people with xmea remain able to walk as they get older, while others require assistance in adulthood. this disorder is caused by mutations in the vma21 gene and is inherited in an x-linked recessive fashion. last updated: 12/22/2015

UniProtKB/Swiss-Prot:68 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 52)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.7
2atrial standstill, digenic10.4EMD, LAMP2
3fissured tongue10.4ATP12A, ATP4A
4lens subluxation10.4ATP12A, ATP4A
5scrotum squamous cell carcinoma10.4ATP12A, ATP4A
6posterior cerebral artery infarction10.4ATP12A, ATP4A
7encephalitis10.4ATP12A, ATP4A
8breast cystic hypersecretory carcinoma10.4ATP12A, ATP4A
9amyotrophic lateral sclerosis type 210.4ATP12A, ATP4A
10pseudomyxoma peritonei10.4ATP12A, ATP4A
11protein-energy malnutrition10.4ATP12A, ATP4A
12postmenopausal atrophic vaginitis10.4ATP12A, ATP4A
13danon disease10.4
14polysyndactyly with cardiac malformation10.3ATP12A, ATP4A
15focal hand dystonia10.3ATP12A, ATP4A
16epididymo-orchitis10.3ATP12A, ATP4A
17skeletal muscle cancer10.3ATP12A, ATP4A
18tooth ankylosis10.3ATP12A, ATP4A
19uvula cancer10.3ATP12A, ATP4A
20fasciitis10.3ATP12A, ATP4A
21spastic paraplegia 34, x-linked10.3GAA, LAMP2, VMA21
22ileocolitis10.3ATP12A, ATP4A
23bacterial gastritis10.3ATP12A, ATP4A
24spinocerebellar ataxia 1810.3ATP12A, ATP4A
25ring staphyloma10.3ATP12A, ATP4A
26muscular dystrophy, rigid spine, 110.3DMD, GAA
27diarrhea10.3ATP12A, ATP4A
28pituitary carcinoma10.3ATP12A, ATP4A
29allergic urticaria10.2ATP12A, ATP4A
30breast myoepitheliosis10.2ATP12A, ATP4A
31anal spasm10.2ATP12A, ATP4A
32pediatric germ cell cancer10.2ATP12A, ATP4A
33contagious pustular dermatitis10.2ATP12A, ATP4A
34cornelia de lange syndrome10.2DMD, GNE
35intracortical osteogenic sarcoma10.2ATP12A, ATP4A
36peripheral osteosarcoma10.1ATP12A, ATP4A
37cardiomyopathy10.1
38muscular dystrophy-dystroglycanopathy , type b, 410.0DMD, LAMA2
39baraitser-winter syndrome 210.0DMD, GAA, LAMP2
40epilepsy, generalized, with febrile seizures plus, type 110.0DMD, GAA
41rheumatic fever10.0ATP12A, ATP4A, GNE
42farber lipogranulomatosis10.0ATP12A, ATP4A
43microcephaly and chorioretinopathy 19.9DMD, EMD
44lymphoma, malt, somatic9.9ATP12A, ATP4A
45thrombocytopenia, x-linked9.8DMD, LAMA2
46gemistocytic astrocytoma9.7ATP12A, ATP4A, DMD
47muscular dystrophy, congenital9.7DMD, LAMA2
48median arcuate ligament syndrome9.6DMD, EMD, LAMA2
49ectodermal dysplasia9.5DMD, EMD, LAMA2
50classic variant of chromophobe renal cell carcinoma9.3DMD, EMD, GNE, LAMA2

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 7)
id Description Frequency HPO Source Accession
1 myotonia HP:0002486
2 myopathy HP:0003198
3 skeletal muscle atrophy HP:0003202
4 elevated serum creatine phosphokinase HP:0003236
5 difficulty climbing stairs HP:0003551
6 proximal muscle weakness in lower limbs HP:0008994
7 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 Myopathy, X-Linked, with Excessive Autophagy25
2 X-Linked Myopathy with Excessive Autophagy23 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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0DMD, EMD, GAA, GNE, LAMA2, LAMP2
2MP:00053857.4B2M, DMD, EMD, GAA, GNE, LAMP2
3MP:00053786.6ATP12A, B2M, DMD, GAA, GNE, LAMA2
4MP:00053766.5ATP12A, ATP4A, B2M, DMD, GAA, GNE

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
1VMA21NM_001017980.3(VMA21): c.163+4A> Gsingle nucleotide variantPathogenicrs797044909GRCh38Chr X, 151403744: 151403744
2VMA21NM_001017980.3(VMA21): c.54-27A> Csingle nucleotide variantPathogenicrs878854352GRCh38Chr X, 151403604: 151403604
3VMA21NM_001017980.3(VMA21): c.54-27A> Tsingle nucleotide variantPathogenicrs878854352GRCh38Chr X, 151403604: 151403604
4VMA21NM_001017980.3(VMA21): c.164-7T> Gsingle nucleotide variantPathogenicrs878854353GRCh38Chr X, 151404909: 151404909
5VMA21NM_001017980.3(VMA21): c.272G> C (p.Gly91Ala)single nucleotide variantPathogenicrs878854354GRCh37Chr X, 150573496: 150573496
6VMA21NM_001017980.3(VMA21): c.*6A> Gsingle nucleotide variantPathogenicrs878854355GRCh38Chr X, 151405064: 151405064
7VMA21NM_001017980.3(VMA21): c.164-6T> Gsingle nucleotide variantPathogenicrs878854356GRCh38Chr X, 151404910: 151404910
8VMA21NM_001017980.3(VMA21): c.*13_*104deldeletionPathogenic
9VMA21NM_001017980.3(VMA21): c.54-16_54-8deldeletionPathogenicrs878854357GRCh38Chr X, 151403615: 151403623

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 pathwaysScoreTop Affiliating Genes
19.3DMD, LAMA2
2
Show member pathways
8.9DMD, 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:00057649.5GAA, LAMP2, VMA21
2phagocytic vesicle membraneGO:00306709.5B2M, LAMP2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1potassium ion importGO:001010710.0ATP12A, ATP4A
2sodium ion export from cellGO:003637610.0ATP12A, ATP4A
3ATP hydrolysis coupled proton transportGO:001599110.0ATP12A, ATP4A
4establishment or maintenance of transmembrane electrochemical gradientGO:001024810.0ATP12A, ATP4A
5cellular sodium ion homeostasisGO:00068839.9ATP12A, ATP4A
6cellular potassium ion homeostasisGO:00300079.9ATP12A, ATP4A
7cardiac muscle contractionGO:00600489.2DMD, GAA
8muscle cell cellular homeostasisGO:00467169.2DMD, GAA, LAMP2
9muscle organ developmentGO:00075178.8DMD, 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:00089009.6ATP12A, ATP4A
2sodium:potassium-exchanging ATPase activityGO:00053919.5ATP12A, ATP4A

Sources for Myopathy, X-Linked, with Excessive Autophagy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet