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 57 75 53 74 29 13 6 40 72
Xmea 57 12 53 59 74
X-Linked Myopathy with Excessive Autophagy 12 53 59 15
Meax 57 74
Vacuolar Myopathy 72

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
myopathy, x-linked, with excessive autophagy:
Onset and clinical course slow progression incomplete penetrance
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050760
OMIM 57 310440
MeSH 44 D009135
ICD10 via Orphanet 34 G71.8
UMLS via Orphanet 73 C1839615 C2931230
Orphanet 59 ORPHA25980
MedGen 42 C1839615
UMLS 72 C1839615 C2931230

Summaries for Myopathy, X-Linked, with Excessive Autophagy

OMIM : 57 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 and heart, 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 : 53 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 : 74 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 : 75 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 91)
# Related Disease Score Top Affiliating Genes
1 danon disease 32.4 VMA21 LAMP2 GAA
2 myopathy 30.4 GNE GAA EMD
3 glycogen storage disease ii 30.3 LAMP2 GAA DMD
4 atrial standstill 1 29.6 LAMP2 GAA EMD DMD
5 muscular dystrophy 28.8 LAMA2 GNE GAA EMD DMD
6 myopathy, autophagic vacuolar, infantile-onset 11.2
7 phosphatase, acid, of tissues 10.6 LAMP2 GAA
8 fungal esophagitis 10.5 ATP4A ATP12A
9 gastroduodenal crohn's disease 10.5 ATP4A ATP12A
10 diclofenac allergy 10.5 ATP4A ATP12A
11 neonatal candidiasis 10.5 ATP4A ATP12A
12 squamous papillomatosis 10.5 ATP4A ATP12A
13 photoallergic dermatitis 10.5 ATP4A ATP12A
14 gastrointestinal neuroendocrine benign tumor 10.5 ATP4A ATP12A
15 aspiration pneumonitis 10.5 ATP4A ATP12A
16 toxic megacolon 10.5 ATP4A ATP12A
17 granulomatous gastritis 10.5 ATP4A ATP12A
18 gastric antral vascular ectasia 10.5 ATP4A ATP12A
19 acute laryngitis 10.5 ATP4A ATP12A
20 laryngitis 10.5 ATP4A ATP12A
21 gastric neuroendocrine neoplasm 10.5 ATP4A ATP12A
22 esophageal candidiasis 10.5 ATP4A ATP12A
23 duodenitis 10.5 ATP4A ATP12A
24 active peptic ulcer disease 10.5 ATP4A ATP12A
25 dyskinesia of esophagus 10.5 ATP4A ATP12A
26 peptic esophagitis 10.5 ATP4A ATP12A
27 capillary disease 10.5 ATP4A ATP12A
28 bile reflux 10.5 ATP4A ATP12A
29 ischemic neuropathy 10.5 ATP4A ATP12A
30 bladder calculus 10.5 ATP4A ATP12A
31 congenital disorder of deglycosylation 10.5 ATP4A ATP12A
32 anismus 10.5 ATP4A ATP12A
33 hernia, hiatus 10.5 ATP4A ATP12A
34 postsurgical hypothyroidism 10.5 ATP4A ATP12A
35 esophageal atresia/tracheoesophageal fistula 10.5 ATP4A ATP12A
36 lymphocytic colitis 10.5 ATP4A ATP12A
37 clostridium difficile colitis 10.4 ATP4A ATP12A
38 esophagitis, eosinophilic, 1 10.4 ATP4A ATP12A
39 diarrhea 1, secretory chloride, congenital 10.4 ATP4A ATP12A
40 microscopic colitis 10.4 ATP4A ATP12A
41 chronic intestinal vascular insufficiency 10.4 ATP4A ATP12A
42 esophagus adenocarcinoma 10.4 ATP4A ATP12A
43 eosinophilic gastritis 10.4 ATP4A ATP12A
44 chronic laryngitis 10.4 ATP4A ATP12A
45 superior mesenteric artery syndrome 10.4 ATP4A ATP12A
46 esophageal varix 10.4 ATP4A ATP12A
47 pancreatic steatorrhea 10.4 ATP4A ATP12A
48 jejunoileitis 10.4 ATP4A ATP12A
49 polyposis, skin pigmentation, alopecia, and fingernail changes 10.4 ATP4A ATP12A
50 lower urinary tract calculus 10.4 ATP4A ATP12A

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:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 32 occasional (7.5%) HP:0002093
2 scoliosis 32 occasional (7.5%) HP:0002650
3 neonatal hypotonia 32 occasional (7.5%) HP:0001319
4 flexion contracture 32 occasional (7.5%) HP:0001371
5 motor delay 32 occasional (7.5%) HP:0001270
6 limited extraocular movements 32 occasional (7.5%) HP:0007941
7 myopathy 32 HP:0003198
8 myotonia 32 HP:0002486
9 skeletal muscle atrophy 32 HP:0003202
10 proximal muscle weakness in lower limbs 32 HP:0008994
11 gowers sign 32 HP:0003391
12 difficulty climbing stairs 32 HP:0003551
13 difficulty running 32 HP:0009046
14 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis Withdrawn NCT02124070 Phase 1, Phase 2 rh Growth Hormone

Search 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 29 VMA21

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

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

41
Skeletal Muscle, Heart

Publications for Myopathy, X-Linked, with Excessive Autophagy

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

(show all 22)
# Title Authors PMID Year
1
Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy. 38 8 71
25683699 2015
2
Late adult-onset of X-linked myopathy with excessive autophagy. 38 8 71
24488655 2014
3
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. 38 8 71
23315026 2013
4
A new congenital form of X-linked autophagic vacuolar myopathy. 38 8 71
16217076 2005
5
Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy. 8 71
25817839 2015
6
Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy. 8 71
23850239 2013
7
Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy. 38 8
25809233 2015
8
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. 38 8
19379691 2009
9
Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. 38 8
12196656 2002
10
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. 38 8
10757644 2000
11
Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. 38 8
2892402 1988
12
Fine-mapping the gene for X-linked myopathy with excessive autophagy. 8
18794500 2008
13
X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers. 8
7755359 1995
14
X-linked myopathy with excessive autophagy: a new hereditary muscle disease. 8
2897824 1988
15
Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy. 38
27916343 2017
16
Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA. 38
27566744 2016
17
No cardiomyopathy in X-linked myopathy with excessive autophagy. 38
25845477 2015
18
X-linked myopathy with excessive autophagy: a failure of self-eating. 38
25644398 2015
19
Autophagic vacuolar pathology in desminopathies. 38
25557463 2015
20
Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle. 38
18502640 2008
21
Autophagic vacuolar myopathy in twin girls. 38
16640643 2006
22
X-linked vacuolar myopathies: two separate loci and refined genetic mapping. 38
10805342 2000

Variations for Myopathy, X-Linked, with Excessive Autophagy

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

6 (show all 18)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VMA21 NM_001017980.3(VMA21): c.163+4A> G single nucleotide variant Pathogenic rs797044909 X:150572216-150572216 X:151403744-151403744
2 VMA21 NM_001017980.3(VMA21): c.54-27A> C single nucleotide variant Pathogenic rs878854352 X:150572076-150572076 X:151403604-151403604
3 VMA21 NM_001017980.3(VMA21): c.54-27A> T single nucleotide variant Pathogenic rs878854352 X:150572076-150572076 X:151403604-151403604
4 VMA21 NM_001017980.3(VMA21): c.164-7T> G single nucleotide variant Pathogenic rs878854353 X:150573381-150573381 X:151404909-151404909
5 VMA21 NM_001017980.3(VMA21): c.272G> C (p.Gly91Ala) single nucleotide variant Pathogenic rs878854354 X:150573496-150573496 X:151405024-151405024
6 VMA21 NM_001017980.3(VMA21): c.164-6T> G single nucleotide variant Pathogenic rs878854356 X:150573382-150573382 X:151404910-151404910
7 VMA21 NM_001017980.3(VMA21): c.*13_*104del deletion Pathogenic rs1556035617 X:150573543-150573634 X:151405071-151405162
8 VMA21 NM_001017980.3(VMA21): c.54-16_54-8del deletion Pathogenic rs878854357 X:150572087-150572095 X:151403615-151403623
9 VMA21 NM_001017980.3(VMA21): c.*6A> G single nucleotide variant Likely pathogenic rs878854355 X:150573536-150573536 X:151405064-151405064
10 VMA21 NM_001017980.3(VMA21): c.23C> T (p.Ala8Val) single nucleotide variant Uncertain significance rs1556034337 X:150565803-150565803 X:151397331-151397331
11 VMA21 NM_001017980.3(VMA21): c.41C> T (p.Pro14Leu) single nucleotide variant Uncertain significance rs1412988171 X:150565821-150565821 X:151397349-151397349
12 VMA21 NM_001017980.3(VMA21): c.166G> A (p.Ala56Thr) single nucleotide variant Uncertain significance X:150573390-150573390 X:151404918-151404918
13 VMA21 NM_001017980.3(VMA21): c.29A> G (p.Asn10Ser) single nucleotide variant Uncertain significance X:150565809-150565809 X:151397337-151397337
14 VMA21 NM_001017980.3(VMA21): c.164G> T (p.Gly55Val) single nucleotide variant Uncertain significance X:150573388-150573388 X:151404916-151404916
15 VMA21 NM_001017980.3(VMA21): c.236T> G (p.Val79Gly) single nucleotide variant Uncertain significance X:150573460-150573460 X:151404988-151404988
16 VMA21 NM_001017980.3(VMA21): c.225C> T (p.Ala75=) single nucleotide variant Benign rs139323488 X:150573449-150573449 X:151404977-151404977
17 VMA21 NM_001017980.3(VMA21): c.182A> G (p.Asn61Ser) single nucleotide variant Benign rs141926826 X:150573406-150573406 X:151404934-151404934
18 VMA21 NM_001017980.3(VMA21): c.165C> T (p.Gly55=) single nucleotide variant Benign rs146017753 X:150573389-150573389 X:151404917-151404917

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
11.52 LAMA2 EMD DMD
2
Show member pathways
11.4 LAMA2 EMD DMD
3 9.9 LAMA2 DMD

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 LAMA2 ACHE

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

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 GNE GAA
2 sodium:potassium-exchanging ATPase activity GO:0005391 8.96 ATP4A ATP12A
3 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP4A ATP12A

Sources for Myopathy, X-Linked, with Excessive Autophagy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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