MCID: MYP100
MIFTS: 35

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 51 47 24 69 12 67
X-Linked Myopathy with Excessive Autophagy 11 47 24 53 26 13
Xmea 11 47 24 53 69
 
Vacuolar Myopathy 53 67
Meax 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
myopathy, x-linked, with excessive autophagy:
Inheritance: x-linked recessive inheritance
Onset and clinical course: slow progression, incomplete penetrance

Classifications:



External Ids:

OMIM51 310440
Disease Ontology11 DOID:0050760
Orphanet53 ORPHA25980
ICD10 via Orphanet30 G71.8
MedGen36 C1839615
MeSH38 D009135

Summaries for Myopathy, X-Linked, with Excessive Autophagy

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OMIM:51 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 danon disease and myopathy, 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 is Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include skeletal muscle and heart, and related mouse phenotypes are cardiovascular system and behavior/neurological.

NIH Rare Diseases:47 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:69 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 all 48)
idRelated DiseaseScoreTop Affiliating Genes
1danon disease11.2
2myopathy10.6
3atrial standstill, digenic10.4EMD, LAMP2
4fissured tongue10.3ATP12A, ATP4A
5lens subluxation10.3ATP12A, ATP4A
6scrotum squamous cell carcinoma10.3ATP12A, ATP4A
7posterior cerebral artery infarction10.3ATP12A, ATP4A
8encephalitis10.3ATP12A, ATP4A
9breast cystic hypersecretory carcinoma10.3ATP12A, ATP4A
10muscular dystrophy, rigid spine, 110.3DMD, GAA
11pseudomyxoma peritonei10.3ATP12A, ATP4A
12protein-energy malnutrition10.3ATP12A, ATP4A
13postmenopausal atrophic vaginitis10.3ATP12A, ATP4A
14spastic paraplegia 34, x-linked10.3GAA, LAMP2, VMA21
15polysyndactyly with cardiac malformation10.3ATP12A, ATP4A
16focal hand dystonia10.3ATP12A, ATP4A
17epididymo-orchitis10.3ATP12A, ATP4A
18skeletal muscle cancer10.3ATP12A, ATP4A
19tooth ankylosis10.3ATP12A, ATP4A
20uvula cancer10.3ATP12A, ATP4A
21fasciitis10.3ATP12A, ATP4A
22ileocolitis10.3ATP12A, ATP4A
23bacterial gastritis10.3ATP12A, ATP4A
24spinocerebellar ataxia 1810.2ATP12A, ATP4A
25ring staphyloma10.2ATP12A, ATP4A
26diarrhea10.2ATP12A, ATP4A
27pituitary carcinoma10.2ATP12A, ATP4A
28allergic urticaria10.2ATP12A, ATP4A
29breast myoepitheliosis10.2ATP12A, ATP4A
30anal spasm10.2ATP12A, ATP4A
31pediatric germ cell cancer10.2ATP12A, ATP4A
32muscular dystrophy-dystroglycanopathy , type b, 410.1DMD, LAMA2
33baraitser-winter syndrome 210.1DMD, GAA, LAMP2
34contagious pustular dermatitis10.1ATP12A, ATP4A
35intracortical osteogenic sarcoma10.1ATP12A, ATP4A
36peripheral osteosarcoma10.0ATP12A, ATP4A
37rheumatic fever10.0ATP12A, ATP4A, GNE
38cardiomyopathy10.0
39microcephaly and chorioretinopathy 19.9DMD, EMD
40epilepsy, generalized, with febrile seizures plus, type 19.9DMD, GAA
41muscular dystrophy, congenital9.9DMD, LAMA2
42gemistocytic astrocytoma9.9ATP12A, ATP4A, DMD
43median arcuate ligament syndrome9.8DMD, EMD, LAMA2
44ectodermal dysplasia9.7DMD, EMD, LAMA2
45intestinal pseudo-obstruction9.6ACHE, B2M
46thrombocytopenia, x-linked9.6DMD, LAMA2
47classic variant of chromophobe renal cell carcinoma9.6DMD, EMD, GNE, LAMA2
48cubitus valgus with mental retardation and unusual facies7.3ATP12A, ATP4A, B2M, DMD, EMD, GAA

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

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

 63 (show all 7)
id Description HPO Frequency HPO Source Accession
1 myotonia63 HP:0002486
2 myopathy63 HP:0003198
3 skeletal muscle atrophy63 HP:0003202
4 elevated serum creatine phosphokinase63 HP:0003236
5 difficulty climbing stairs63 HP:0003551
6 proximal muscle weakness in lower limbs63 HP:0008994
7 difficulty running63 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 Autophagy26
2 X-Linked Myopathy with Excessive Autophagy24 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:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5B2M, DMD, EMD, GAA, GNE, LAMP2
2MP:00053868.3ACHE, DMD, EMD, GAA, GNE, LAMA2
3MP:00053697.5ACHE, DMD, EMD, GAA, GNE, LAMA2
4MP:00053787.3ACHE, ATP12A, B2M, DMD, GAA, GNE
5MP:00053766.9ACHE, ATP12A, ATP4A, B2M, 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
1VMA21NM_001017980.3(VMA21): c.163+4A> GSNVPathogenicrs797044909GRCh37Chr X, 150572216: 150572216
2VMA21NM_001017980.3(VMA21): c.54-27A> CSNVPathogenicrs878854352GRCh38Chr X, 151403604: 151403604
3VMA21NM_001017980.3(VMA21): c.54-27A> TSNVPathogenicrs878854352GRCh38Chr X, 151403604: 151403604
4VMA21NM_001017980.3(VMA21): c.164-7T> GSNVPathogenicrs878854353GRCh38Chr X, 151404909: 151404909
5VMA21NM_001017980.3(VMA21): c.272G> C (p.Gly91Ala)SNVPathogenicrs878854354GRCh37Chr X, 150573496: 150573496
6VMA21NM_001017980.3(VMA21): c.*6A> GSNVPathogenicrs878854355GRCh38Chr X, 151405064: 151405064
7VMA21NM_001017980.3(VMA21): c.164-6T> GSNVPathogenicrs878854356GRCh38Chr X, 151404910: 151404910
8VMA21NM_001017980.3(VMA21): c.*13_*104deldeletionPathogenicChr na, -1: -1
9VMA21NM_001017980.3(VMA21): c.54-16_54-8deldeletionPathogenicrs878854357GRCh37Chr X, 150572087: 150572095

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
19.5DMD, 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:00057649.6GAA, LAMP2, VMA21
2basal laminaGO:00056059.5ACHE, LAMA2

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:001010710.1ATP12A, ATP4A
2sodium ion export from cellGO:003637610.1ATP12A, ATP4A
3ATP hydrolysis coupled proton transportGO:001599110.0ATP12A, ATP4A
4establishment or maintenance of transmembrane electrochemical gradientGO:001024810.0ATP12A, ATP4A
5cellular sodium ion homeostasisGO:000688310.0ATP12A, ATP4A
6cellular potassium ion homeostasisGO:00300079.9ATP12A, ATP4A
7cardiac muscle contractionGO:00600489.6DMD, GAA
8muscle cell cellular homeostasisGO:00467169.2DMD, GAA, LAMP2
9muscle organ developmentGO:00075178.2ACHE, DMD, 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:00053919.6ATP12A, ATP4A

Sources for Myopathy, X-Linked, with Excessive Autophagy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet