MEAX
MCID: MYP100
MIFTS: 37

Myopathy, X-Linked, with Excessive Autophagy (MEAX) 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 52 48 24 70 12 68
X-Linked Myopathy with Excessive Autophagy 11 48 24 54 27 13
Xmea 11 48 24 54 70
 
Vacuolar Myopathy 54 68
Meax 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
myopathy, x-linked, with excessive autophagy:
Inheritance: x-linked recessive inheritance
Onset and clinical course: slow progression, incomplete penetrance

Classifications:



External Ids:

OMIM52 310440
Disease Ontology11 DOID:0050760
Orphanet54 ORPHA25980
ICD10 via Orphanet31 G71.8
MedGen37 C1839615
MeSH39 D009135

Summaries for Myopathy, X-Linked, with Excessive Autophagy

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OMIM:52 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 motor delay, neonatal hypotonia and flexion contracture. An important gene associated with Myopathy, X-Linked, with Excessive Autophagy is VMA21 (VMA21, Vacuolar ATPase Assembly Factor), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include skeletal muscle and heart, and related mouse phenotypes are behavior/neurological and muscle.

NIH Rare Diseases:48 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:70 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 59)
idRelated DiseaseScoreTop Affiliating Genes
1danon disease11.2
2myopathy10.6
3frontonasal dysplasia 210.3GAA, LAMP2
4functional diarrhea10.2ATP12A, ATP4A
5scrotum melanoma10.2ATP12A, ATP4A
6congenital diaphragmatic hernia10.2ATP12A, ATP4A
7secondary syphilis10.2ATP12A, ATP4A
8brain edema10.2ATP12A, ATP4A
9intracranial hypertension10.2ATP12A, ATP4A
10staphyloenterotoxemia10.2ATP12A, ATP4A
11microphthalmia, syndromic 1210.2ATP12A, ATP4A
12spastic paraplegia 34, x-linked10.2GAA, LAMP2, VMA21
13mosaic trisomy 110.2EMD, LAMP2
14ceruminoma10.2ATP12A, ATP4A
15amyotrophic lateral sclerosis type 1010.2ATP12A, ATP4A
16retinitis pigmentosa 1810.2EMD, LAMP2
17synostosis10.2ATP12A, ATP4A
18adult extraosseous chondrosarcoma10.2ATP12A, ATP4A
19porencephaly, cerebellar hypoplasia, and internal malformations10.2ATP12A, ATP4A
20oculogyric crisis10.2ATP12A, ATP4A
21liver rhabdomyosarcoma10.2ATP12A, ATP4A
22mednik syndrome10.2ATP12A, ATP4A
23mucositis10.2ATP12A, ATP4A
24vasculitis10.2ATP12A, ATP4A
25autosomal recessive nonsyndromic deafness 4710.2DMD, LAMA2
26intravascular fasciitis10.2ATP12A, ATP4A
27bladder neck cancer10.1ATP12A, ATP4A
28acquired hemangioma10.1ATP12A, ATP4A
29cardiomyopathy, dilated, 1aa, with or without lvnc10.1DMD, LAMA2
30sudden infant death with dysgenesis of the testes syndrome10.1DMD, LAMA2
31gastroduodenal crohn's disease10.1ATP12A, ATP4A
32lymphocytic gastritis10.1ATP12A, ATP4A
33cardiomyopathy, familial restrictive, 310.1DMD, LAMA2
34lateral sinus thrombosis10.1ATP12A, ATP4A
35cardiomyopathy, dilated, 1x10.1DMD, LAMA2
36mesenteric vascular occlusion10.1ATP12A, ATP4A
37glycogen storage disease 0, muscle10.1DMD, LAMA2
38acute gonococcal cervicitis10.1ATP12A, ATP4A
39baraitser-winter syndrome 210.1DMD, GAA, LAMP2
40scleral staphyloma10.1ATP12A, ATP4A
41lyme disease10.1DMD, GNE
42thrombocytopenia due to platelet alloimmunization10.1ATP12A, ATP4A, GNE
43breast cystic hypersecretory carcinoma10.0ATP12A, ATP4A
44muscular dystrophy, rigid spine, 110.0DMD, GAA, LAMA2
45ovarian mucinous neoplasm10.0ATP12A, ATP4A
46dermatofibrosarcoma protuberans10.0DMD, GNE, LAMA2
47lipodystrophy, familial partial, 210.0DMD, EMD, LAMA2
48parametrium malignant neoplasm10.0DMD, EMD, LAMA2
49cardiomyopathy10.0
50abnormal pupillary function10.0ACHE, ATP12A, 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 & Phenotypes 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:

 64 (show all 14)
id Description HPO Frequency HPO Source Accession
1 motor delay64 HP:0001270
2 neonatal hypotonia64 HP:0001319
3 flexion contracture64 HP:0001371
4 respiratory insufficiency64 HP:0002093
5 myotonia64 HP:0002486
6 scoliosis64 HP:0002650
7 myopathy64 HP:0003198
8 skeletal muscle atrophy64 HP:0003202
9 elevated serum creatine phosphokinase64 HP:0003236
10 gowers sign64 HP:0003391
11 difficulty climbing stairs64 HP:0003551
12 limited extraocular movements64 HP:0007941
13 proximal muscle weakness in lower limbs64 HP:0008994
14 difficulty running64 HP:0009046

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.3ACHE, DMD, EMD, GAA, GNE, LAMA2
2MP:00053697.5ACHE, DMD, EMD, GAA, GNE, LAMA2
3MP:00053787.3ACHE, ATP12A, B2M, DMD, GAA, GNE
4MP:00053766.9ACHE, ATP12A, ATP4A, B2M, DMD, GAA

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 Autophagy27
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:

36
Skeletal muscle, Heart

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_ *104deldeletionPathogenic
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
2
Show member pathways
9.1DMD, EMD, LAMA2
3
Show member pathways
9.1DMD, 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
1basal laminaGO:00056059.4ACHE, LAMA2

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

idNameGO IDScoreTop Affiliating Genes
1cardiac muscle contractionGO:006004810.2DMD, GAA
2establishment or maintenance of transmembrane electrochemical gradientGO:001024810.1ATP12A, ATP4A
3muscle cell cellular homeostasisGO:00467169.9DMD, GAA, LAMP2
4muscle organ developmentGO:00075178.5ACHE, 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:000890010.0ATP12A, ATP4A
2hydrolase activity, hydrolyzing O-glycosyl compoundsGO:000455310.0GAA, GNE
3sodium: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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet