MEAX
MCID: MYP100
MIFTS: 45

Myopathy, X-Linked, with Excessive Autophagy (MEAX)

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

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

MalaCards integrated aliases for Myopathy, X-Linked, with Excessive Autophagy:

Name: Myopathy, X-Linked, with Excessive Autophagy 58 77 54 76 30 13 6 41 74
Xmea 58 12 54 60 76
X-Linked Myopathy with Excessive Autophagy 12 54 60 15
Meax 58 76
Vacuolar Myopathy 74

Characteristics:

Orphanet epidemiological data:

60
x-linked myopathy with excessive autophagy
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Miscellaneous:
slowly progressive
onset usually in early childhood (but can range from infancy to adulthood)
incomplete penetrance, some individuals have only emg changes without other clinical signs

Inheritance:
x-linked recessive


HPO:

33
myopathy, x-linked, with excessive autophagy:
Onset and clinical course incomplete penetrance slow progression
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050760
OMIM 58 310440
MeSH 45 D009135
ICD10 via Orphanet 35 G71.8
UMLS via Orphanet 75 C1839615 C2931230
Orphanet 60 ORPHA25980
MedGen 43 C1839615

Summaries for Myopathy, X-Linked, with Excessive Autophagy

OMIM : 58 X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015). Danon disease (300257), caused by mutation in the LAMP2 gene (309060) on chromosome Xq24, is a distinct disorder with similar pathologic features. (310440)

MalaCards based summary : Myopathy, X-Linked, with Excessive Autophagy, also known as xmea, is related to danon disease and myopathy. An important gene associated with Myopathy, X-Linked, with Excessive Autophagy is VMA21 (Vacuolar ATPase Assembly Factor VMA21), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy (DCM). Affiliated tissues include skeletal muscle, skin and colon, and related phenotypes are respiratory insufficiency and scoliosis

Disease Ontology : 12 A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has material basis in mutation in the VMA21 gene on chromosome Xq28.

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 X-linked myopathy with excessive autophagy (XMEA) is a rare childhood onset disease characterized by... more...

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

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 danon disease 32.0 GAA LAMP2 VMA21
2 myopathy 30.3 EMD GAA GNE
3 myopathy, autophagic vacuolar, infantile-onset 11.1
4 muscle disorders 10.6
5 phosphatase, acid, of tissues 10.4 GAA LAMP2
6 fungal esophagitis 10.3 ATP12A ATP4A
7 diclofenac allergy 10.3 ATP12A ATP4A
8 gastroduodenal crohn's disease 10.3 ATP12A ATP4A
9 neonatal candidiasis 10.3 ATP12A ATP4A
10 photoallergic dermatitis 10.3 ATP12A ATP4A
11 squamous papillomatosis 10.3 ATP12A ATP4A
12 toxic megacolon 10.3 ATP12A ATP4A
13 aspiration pneumonitis 10.3 ATP12A ATP4A
14 gastrointestinal neuroendocrine benign tumor 10.3 ATP12A ATP4A
15 gastric antral vascular ectasia 10.3 ATP12A ATP4A
16 granulomatous gastritis 10.3 ATP12A ATP4A
17 esophageal candidiasis 10.3 ATP12A ATP4A
18 gastric neuroendocrine neoplasm 10.3 ATP12A ATP4A
19 acute laryngitis 10.3 ATP12A ATP4A
20 laryngitis 10.3 ATP12A ATP4A
21 duodenitis 10.3 ATP12A ATP4A
22 active peptic ulcer disease 10.3 ATP12A ATP4A
23 congenital disorder of deglycosylation 10.3 ATP12A ATP4A
24 bladder calculus 10.3 ATP12A ATP4A
25 ischemic neuropathy 10.3 ATP12A ATP4A
26 bile reflux 10.3 ATP12A ATP4A
27 capillary disease 10.3 ATP12A ATP4A
28 peptic esophagitis 10.3 ATP12A ATP4A
29 dyskinesia of esophagus 10.3 ATP12A ATP4A
30 hernia, hiatus 10.3 ATP12A ATP4A
31 anismus 10.3 ATP12A ATP4A
32 postsurgical hypothyroidism 10.3 ATP12A ATP4A
33 lymphocytic colitis 10.3 ATP12A ATP4A
34 esophageal atresia/tracheoesophageal fistula 10.3 ATP12A ATP4A
35 clostridium difficile colitis 10.3 ATP12A ATP4A
36 diarrhea 1, secretory chloride, congenital 10.3 ATP12A ATP4A
37 esophagitis, eosinophilic, 1 10.3 ATP12A ATP4A
38 microscopic colitis 10.3 ATP12A ATP4A
39 chronic laryngitis 10.3 ATP12A ATP4A
40 eosinophilic gastritis 10.3 ATP12A ATP4A
41 esophagus adenocarcinoma 10.3 ATP12A ATP4A
42 chronic intestinal vascular insufficiency 10.3 ATP12A ATP4A
43 polyposis, skin pigmentation, alopecia, and fingernail changes 10.3 ATP12A ATP4A
44 jejunoileitis 10.3 ATP12A ATP4A
45 pancreatic steatorrhea 10.3 ATP12A ATP4A
46 esophageal varix 10.2 ATP12A ATP4A
47 superior mesenteric artery syndrome 10.2 ATP12A ATP4A
48 gastric lymphoma 10.2 ATP12A ATP4A
49 lower urinary tract calculus 10.2 ATP12A ATP4A
50 aspiration pneumonia 10.2 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

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

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 33 occasional (7.5%) HP:0002093
2 scoliosis 33 occasional (7.5%) HP:0002650
3 neonatal hypotonia 33 occasional (7.5%) HP:0001319
4 flexion contracture 33 occasional (7.5%) HP:0001371
5 motor delay 33 occasional (7.5%) HP:0001270
6 limited extraocular movements 33 occasional (7.5%) HP:0007941
7 myopathy 33 HP:0003198
8 myotonia 33 HP:0002486
9 skeletal muscle atrophy 33 HP:0003202
10 proximal muscle weakness in lower limbs 33 HP:0008994
11 gowers sign 33 HP:0003391
12 difficulty climbing stairs 33 HP:0003551
13 difficulty running 33 HP:0009046
14 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
difficulty climbing stairs
difficulty running
gower sign
normal alpha-glucosidase or acid maltase activity (gaa, )
muscle weakness, proximal, lower limbs
more
Laboratory Abnormalities:
increased serum creatine kinase
increased urinary beta-2-microglobulin (1 family)

Respiratory:
respiratory insufficiency (in some patients)

Head And Neck Eyes:
limited extraocular movements (in some patients)

Skeletal Spine:
scoliosis (in some patients)

Skeletal:
joint contractures (in some patients)

Neurologic Central Nervous System:
delayed motor development (in some patients)
no mental retardation

Cardiovascular Heart:
no cardiac involvement (in most patients)
cardiac hypertrophy, mild (in some patients)

Clinical features from OMIM:

310440

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.76 ACHE ATP12A B2M DMD GAA GNE
2 homeostasis/metabolism MP:0005376 9.65 ACHE ATP12A ATP4A B2M DMD EMD
3 muscle MP:0005369 9.17 ACHE DMD EMD GAA GNE LAMA2

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

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

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

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

# Genetic test Affiliating Genes
1 Myopathy, X-Linked, with Excessive Autophagy 30 VMA21

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

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

42
Skeletal Muscle, Skin, Colon, Bone

Publications for Myopathy, X-Linked, with Excessive Autophagy

Articles related to Myopathy, X-Linked, with Excessive Autophagy:

(show all 19)
# Title Authors Year
1
Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy. ( 27916343 )
2017
2
Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA. ( 27566744 )
2016
3
Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy. ( 25809233 )
2015
4
Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy. ( 25817839 )
2015
5
No cardiomyopathy in X-linked myopathy with excessive autophagy. ( 25845477 )
2015
6
X-linked myopathy with excessive autophagy: a failure of self-eating. ( 25644398 )
2015
7
Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy. ( 25683699 )
2015
8
Late adult-onset of X-linked myopathy with excessive autophagy. ( 24488655 )
2014
9
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. ( 23315026 )
2013
10
Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy. ( 23850239 )
2013
11
Fine-mapping the gene for X-linked myopathy with excessive autophagy. ( 18794500 )
2008
12
Case of X-linked myopathy with excessive autophagy. ( 16901453 )
2006
13
A new congenital form of X-linked autophagic vacuolar myopathy. ( 16217076 )
2005
14
Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy. ( 15753448 )
2005
15
Electrophysiological findings in X-linked myopathy with excessive autophagy. ( 12112116 )
2002
16
Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. ( 12196656 )
2002
17
X-linked myopathy with excessive autophagy: a clinicopathological study of five new families. ( 11369189 )
2001
18
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. ( 10757644 )
2000
19
X-linked myopathy with excessive autophagy: a new hereditary muscle disease. ( 2897824 )
1988

Variations for Myopathy, X-Linked, with Excessive Autophagy

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

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 VMA21 NM_001017980.3(VMA21): c.163+4A> G single nucleotide variant Pathogenic rs797044909 GRCh37 Chromosome X, 150572216: 150572216
2 VMA21 NM_001017980.3(VMA21): c.163+4A> G single nucleotide variant Pathogenic rs797044909 GRCh38 Chromosome X, 151403744: 151403744
3 VMA21 NM_001017980.3(VMA21): c.54-27A> C single nucleotide variant Pathogenic rs878854352 GRCh38 Chromosome X, 151403604: 151403604
4 VMA21 NM_001017980.3(VMA21): c.54-27A> C single nucleotide variant Pathogenic rs878854352 GRCh37 Chromosome X, 150572076: 150572076
5 VMA21 NM_001017980.3(VMA21): c.54-27A> T single nucleotide variant Pathogenic rs878854352 GRCh38 Chromosome X, 151403604: 151403604
6 VMA21 NM_001017980.3(VMA21): c.54-27A> T single nucleotide variant Pathogenic rs878854352 GRCh37 Chromosome X, 150572076: 150572076
7 VMA21 NM_001017980.3(VMA21): c.164-7T> G single nucleotide variant Pathogenic rs878854353 GRCh38 Chromosome X, 151404909: 151404909
8 VMA21 NM_001017980.3(VMA21): c.164-7T> G single nucleotide variant Pathogenic rs878854353 GRCh37 Chromosome X, 150573381: 150573381
9 VMA21 NM_001017980.3(VMA21): c.272G> C (p.Gly91Ala) single nucleotide variant Pathogenic rs878854354 GRCh37 Chromosome X, 150573496: 150573496
10 VMA21 NM_001017980.3(VMA21): c.272G> C (p.Gly91Ala) single nucleotide variant Pathogenic rs878854354 GRCh38 Chromosome X, 151405024: 151405024
11 VMA21 NM_001017980.3(VMA21): c.*6A> G single nucleotide variant Pathogenic rs878854355 GRCh38 Chromosome X, 151405064: 151405064
12 VMA21 NM_001017980.3(VMA21): c.*6A> G single nucleotide variant Pathogenic rs878854355 GRCh37 Chromosome X, 150573536: 150573536
13 VMA21 NM_001017980.3(VMA21): c.164-6T> G single nucleotide variant Pathogenic rs878854356 GRCh38 Chromosome X, 151404910: 151404910
14 VMA21 NM_001017980.3(VMA21): c.164-6T> G single nucleotide variant Pathogenic rs878854356 GRCh37 Chromosome X, 150573382: 150573382
15 VMA21 NM_001017980.3(VMA21): c.*13_*104del deletion Pathogenic rs1556035617 GRCh37 Chromosome X, 150573543: 150573634
16 VMA21 NM_001017980.3(VMA21): c.*13_*104del deletion Pathogenic rs1556035617 GRCh38 Chromosome X, 151405071: 151405162
17 VMA21 NM_001017980.3(VMA21): c.54-16_54-8del deletion Pathogenic rs878854357 GRCh37 Chromosome X, 150572087: 150572095
18 VMA21 NM_001017980.3(VMA21): c.54-16_54-8del deletion Pathogenic rs878854357 GRCh38 Chromosome X, 151403615: 151403623
19 VMA21 NM_001017980.3(VMA21): c.182A> G (p.Asn61Ser) single nucleotide variant Benign rs141926826 GRCh37 Chromosome X, 150573406: 150573406
20 VMA21 NM_001017980.3(VMA21): c.182A> G (p.Asn61Ser) single nucleotide variant Benign rs141926826 GRCh38 Chromosome X, 151404934: 151404934
21 VMA21 NM_001017980.3(VMA21): c.165C> T (p.Gly55=) single nucleotide variant Benign rs146017753 GRCh37 Chromosome X, 150573389: 150573389
22 VMA21 NM_001017980.3(VMA21): c.165C> T (p.Gly55=) single nucleotide variant Benign rs146017753 GRCh38 Chromosome X, 151404917: 151404917
23 VMA21 NM_001017980.3(VMA21): c.23C> T (p.Ala8Val) single nucleotide variant Uncertain significance rs1556034337 GRCh38 Chromosome X, 151397331: 151397331
24 VMA21 NM_001017980.3(VMA21): c.23C> T (p.Ala8Val) single nucleotide variant Uncertain significance rs1556034337 GRCh37 Chromosome X, 150565803: 150565803
25 VMA21 NM_001017980.3(VMA21): c.41C> T (p.Pro14Leu) single nucleotide variant Uncertain significance rs1412988171 GRCh38 Chromosome X, 151397349: 151397349
26 VMA21 NM_001017980.3(VMA21): c.41C> T (p.Pro14Leu) single nucleotide variant Uncertain significance rs1412988171 GRCh37 Chromosome X, 150565821: 150565821
27 VMA21 NM_001017980.3(VMA21): c.225C> T (p.Ala75=) single nucleotide variant Benign rs139323488 GRCh38 Chromosome X, 151404977: 151404977
28 VMA21 NM_001017980.3(VMA21): c.225C> T (p.Ala75=) single nucleotide variant Benign rs139323488 GRCh37 Chromosome X, 150573449: 150573449
29 VMA21 NM_001017980.3(VMA21): c.166G> A (p.Ala56Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 151404918: 151404918
30 VMA21 NM_001017980.3(VMA21): c.166G> A (p.Ala56Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 150573390: 150573390
31 VMA21 NM_001017980.3(VMA21): c.29A> G (p.Asn10Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 150565809: 150565809
32 VMA21 NM_001017980.3(VMA21): c.29A> G (p.Asn10Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 151397337: 151397337
33 VMA21 NM_001017980.3(VMA21): c.164G> T (p.Gly55Val) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 151404916: 151404916
34 VMA21 NM_001017980.3(VMA21): c.164G> T (p.Gly55Val) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 150573388: 150573388

Expression for Myopathy, X-Linked, with Excessive Autophagy

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

Pathways for Myopathy, X-Linked, with Excessive Autophagy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 DMD EMD LAMA2
2
Show member pathways
11.38 DMD EMD LAMA2
3 9.9 DMD LAMA2

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

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

# Name GO ID Score Top Affiliating Genes
1 synaptic cleft GO:0043083 8.62 ACHE LAMA2

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

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.46 DMD GAA
2 potassium ion import across plasma membrane GO:1990573 9.43 ATP12A ATP4A
3 ATP hydrolysis coupled proton transport GO:0015991 9.4 ATP12A ATP4A
4 cellular sodium ion homeostasis GO:0006883 9.37 ATP12A ATP4A
5 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.32 ATP12A ATP4A
6 cellular potassium ion homeostasis GO:0030007 9.26 ATP12A ATP4A
7 muscle organ development GO:0007517 9.26 ACHE DMD EMD LAMA2
8 sodium ion export across plasma membrane GO:0036376 9.16 ATP12A ATP4A
9 muscle cell cellular homeostasis GO:0046716 8.8 DMD GAA LAMP2

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.16 GAA GNE
2 sodium:potassium-exchanging ATPase activity GO:0005391 8.96 ATP12A ATP4A
3 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP12A ATP4A

Sources for Myopathy, X-Linked, with Excessive Autophagy

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10 dbSNP
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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