MEAX
MCID: MYP100
MIFTS: 47

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 56 74 52 73 29 13 6 39 71
Xmea 56 12 52 58 73
X-Linked Myopathy with Excessive Autophagy 12 52 58 15
Meax 56 73
Vacuolar Myopathy 71

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
myopathy, x-linked, with excessive autophagy:
Onset and clinical course slow progression incomplete penetrance
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050760
OMIM 56 310440
MeSH 43 D009135
ICD10 via Orphanet 33 G71.8
UMLS via Orphanet 72 C1839615 C2931230
Orphanet 58 ORPHA25980
MedGen 41 C1839615
UMLS 71 C1839615 C2931230

Summaries for Myopathy, X-Linked, with Excessive Autophagy

OMIM : 56 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 myopathy and danon disease. 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 Cellular Senescence (REACTOME) and Shigellosis. Affiliated tissues include skeletal muscle, heart and bone, and related phenotypes are scoliosis and respiratory insufficiency

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 : 52 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 : 73 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 : 74 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 106)
# Related Disease Score Top Affiliating Genes
1 myopathy 29.9 VMA21 MTMR14 LAMP2 GNE DNAJB6
2 danon disease 29.3 VMA21 TFEB PIK3R4 PIK3C3 LAMP2 EPG5
3 myopathy, autophagic vacuolar, infantile-onset 11.2
4 congenital disorder of glycosylation, type iin 10.4 TMEM199 CCDC115
5 congenital disorder of glycosylation, type iip 10.4 TMEM199 CCDC115
6 alcohol-related neurodevelopmental disorder 10.4 VMA21 EPG5
7 congenital disorder of glycosylation, type iio 10.4 TMEM199 CCDC115
8 muscular dystrophy, congenital, megaconial type 10.4 MTMR14 EPG5
9 congenital disorder of glycosylation, type ii 10.2 TMEM199 GNE CCDC115
10 pancreatic vasoactive intestinal peptide producing tumor 10.2 ATP4A ATP12A
11 hemangioma of intra-abdominal structure 10.2 ATP4A ATP12A
12 displacement of cardia through esophageal hiatus 10.2 ATP4A ATP12A
13 gastric hemangioma 10.2 ATP4A ATP12A
14 congenital disorder of glycosylation, type in 10.2 TMEM199 GNE CCDC115
15 acquired gastric outlet stenosis 10.2 ATP4A ATP12A
16 angiodysplasia of intestine 10.2 ATP4A ATP12A
17 angiodysplasia 10.2 ATP4A ATP12A
18 benzylpenicillin allergy 10.2 ATP4A ATP12A
19 median arcuate ligament syndrome 10.2 ATP4A ATP12A
20 granulomatous gastritis 10.2 ATP4A ATP12A
21 bacterial esophagitis 10.2 ATP4A ATP12A
22 lingual goiter 10.2 ATP4A ATP12A
23 cascade stomach 10.2 ATP4A ATP12A
24 gastrojejunal ulcer 10.2 ATP4A ATP12A
25 fungal esophagitis 10.2 ATP4A ATP12A
26 gastric gastrinoma 10.2 ATP4A ATP12A
27 fungal gastritis 10.2 ATP4A ATP12A
28 superior mesenteric artery syndrome 10.2 ATP4A ATP12A
29 cervix erosion 10.2 ATP4A ATP12A
30 pneumatosis cystoides intestinalis 10.2 ATP4A ATP12A
31 dieulafoy lesion 10.2 ATP4A ATP12A
32 esophagus sarcoma 10.2 ATP4A ATP12A
33 esophagus melanoma 10.2 ATP4A ATP12A
34 polyposis, skin pigmentation, alopecia, and fingernail changes 10.2 ATP4A ATP12A
35 necrotizing gastritis 10.2 ATP4A ATP12A
36 central nervous system origin vertigo 10.2 ATP4A ATP12A
37 chronic laryngitis 10.2 ATP4A ATP12A
38 laryngitis 10.2 ATP4A ATP12A
39 emery-dreifuss muscular dystrophy 10.2
40 muscular dystrophy 10.2
41 extrapontine myelinolysis 10.2
42 cefuroxime allergy 10.2 ATP4A ATP12A
43 gastroduodenitis 10.2 ATP4A ATP12A
44 duodenitis 10.2 ATP4A ATP12A
45 chronic intestinal vascular insufficiency 10.2 ATP4A ATP12A
46 peptic ulcer perforation 10.2 ATP4A ATP12A
47 rumination disorder 10.2 ATP4A ATP12A
48 blind loop syndrome 10.2 ATP4A ATP12A
49 crab allergy 10.2 ATP4A ATP12A
50 acute laryngitis 10.2 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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 respiratory insufficiency 31 occasional (7.5%) HP:0002093
3 neonatal hypotonia 31 occasional (7.5%) HP:0001319
4 flexion contracture 31 occasional (7.5%) HP:0001371
5 motor delay 31 occasional (7.5%) HP:0001270
6 limited extraocular movements 31 occasional (7.5%) HP:0007941
7 myopathy 31 HP:0003198
8 myotonia 31 HP:0002486
9 skeletal muscle atrophy 31 HP:0003202
10 proximal muscle weakness in lower limbs 31 HP:0008994
11 gowers sign 31 HP:0003391
12 difficulty climbing stairs 31 HP:0003551
13 difficulty running 31 HP:0009046
14 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ATG5 ATP12A EPG5 GNE LAMP2 MTMR14
2 muscle MP:0005369 9.23 ATG5 EPG5 GNE LAMP2 MTMR14 PIK3C3

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:

40
Skeletal Muscle, Heart, Bone, Skin, Cervix

Publications for Myopathy, X-Linked, with Excessive Autophagy

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

(show all 24)
# Title Authors PMID Year
1
Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy. 61 56 6
25683699 2015
2
Late adult-onset of X-linked myopathy with excessive autophagy. 61 56 6
24488655 2014
3
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. 61 56 6
23315026 2013
4
A new congenital form of X-linked autophagic vacuolar myopathy. 61 56 6
16217076 2005
5
Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy. 56 6
25817839 2015
6
Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy. 56 6
23850239 2013
7
Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy. 61 56
25809233 2015
8
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. 61 56
19379691 2009
9
Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. 61 56
12196656 2002
10
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. 61 56
10757644 2000
11
Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. 61 56
2892402 1988
12
Fine-mapping the gene for X-linked myopathy with excessive autophagy. 56
18794500 2008
13
X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers. 56
7755359 1995
14
X-linked myopathy with excessive autophagy: a new hereditary muscle disease. 56
2897824 1988
15
Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy. 61
31826868 2020
16
X-Linked Myopathy with Excessive Autophagy; A Case Report. 61
31744973 2019
17
Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy. 61
27916343 2017
18
Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA. 61
27566744 2016
19
No cardiomyopathy in X-linked myopathy with excessive autophagy. 61
25845477 2015
20
X-linked myopathy with excessive autophagy: a failure of self-eating. 61
25644398 2015
21
Autophagic vacuolar pathology in desminopathies. 61
25557463 2015
22
Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle. 61
18502640 2008
23
Autophagic vacuolar myopathy in twin girls. 61
16640643 2006
24
X-linked vacuolar myopathies: two separate loci and refined genetic mapping. 61
10805342 2000

Variations for Myopathy, X-Linked, with Excessive Autophagy

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

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VMA21 NM_001017980.3(VMA21):c.164-6T>GSNV Pathogenic 208804 rs878854356 X:150573382-150573382 X:151404910-151404910
2 VMA21 NM_001017980.3(VMA21):c.*13_*104deldeletion Pathogenic 208805 rs1556035617 X:150573543-150573634 X:151405071-151405162
3 VMA21 NM_001017980.3(VMA21):c.54-16_54-8deldeletion Pathogenic 208806 rs878854357 X:150572083-150572091 X:151403611-151403619
4 VMA21 NM_001017980.3(VMA21):c.163+4A>GSNV Pathogenic 208720 rs797044909 X:150572216-150572216 X:151403744-151403744
5 VMA21 NM_001017980.3(VMA21):c.54-27A>CSNV Pathogenic 208798 rs878854352 X:150572076-150572076 X:151403604-151403604
6 VMA21 NM_001017980.3(VMA21):c.54-27A>TSNV Pathogenic 208799 rs878854352 X:150572076-150572076 X:151403604-151403604
7 VMA21 NM_001017980.3(VMA21):c.164-7T>GSNV Pathogenic 208801 rs878854353 X:150573381-150573381 X:151404909-151404909
8 VMA21 NM_001017980.3(VMA21):c.272G>C (p.Gly91Ala)SNV Pathogenic 208802 rs878854354 X:150573496-150573496 X:151405024-151405024
9 VMA21 NM_001017980.3(VMA21):c.*6A>GSNV Likely pathogenic 208803 rs878854355 X:150573536-150573536 X:151405064-151405064
10 VMA21 NM_001017980.3(VMA21):c.23C>T (p.Ala8Val)SNV Uncertain significance 533403 rs1556034337 X:150565803-150565803 X:151397331-151397331
11 VMA21 NM_001017980.3(VMA21):c.41C>T (p.Pro14Leu)SNV Uncertain significance 533404 rs1412988171 X:150565821-150565821 X:151397349-151397349
12 VMA21 NM_001017980.3(VMA21):c.166G>A (p.Ala56Thr)SNV Uncertain significance 570316 rs140025330 X:150573390-150573390 X:151404918-151404918
13 VMA21 NM_001017980.3(VMA21):c.29A>G (p.Asn10Ser)SNV Uncertain significance 576143 rs1197341312 X:150565809-150565809 X:151397337-151397337
14 VMA21 NM_001017980.3(VMA21):c.164G>T (p.Gly55Val)SNV Uncertain significance 581244 rs1306425454 X:150573388-150573388 X:151404916-151404916
15 VMA21 NM_001017980.3(VMA21):c.236T>G (p.Val79Gly)SNV Uncertain significance 648123 X:150573460-150573460 X:151404988-151404988

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

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:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 10 TMEM199 LAMP2 CCDC115 ATP4A ATP12A ATG5
2 cytoplasmic vesicle GO:0031410 9.8 VMA21 TMEM199 PIK3R4 PIK3C3 LAMP2 CCDC115
3 lysosome GO:0005764 9.77 VMA21 TMEM199 LAMP2 EPG5 CCDC115
4 late endosome GO:0005770 9.71 PIK3R4 PIK3C3 LAMP2
5 axoneme GO:0005930 9.62 PIK3R4 PIK3C3 ATG5 ATG14
6 phagophore assembly site membrane GO:0034045 9.51 ATG5 ATG14
7 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.49 TMEM199 CCDC115
8 Mitochondria-associated ER Membrane GO:0044233 9.48 ATG5 ATG14
9 autolysosome GO:0044754 9.46 PIK3C3 LAMP2
10 phagocytic vesicle membrane GO:0030670 9.46 PIK3R4 PIK3C3 LAMP2 ATG5
11 phosphatidylinositol 3-kinase complex, class III, type II GO:0034272 9.43 PIK3R4 PIK3C3
12 phosphatidylinositol 3-kinase complex, class III, type I GO:0034271 9.4 PIK3R4 PIK3C3
13 autophagosome GO:0005776 9.26 PIK3R4 PIK3C3 ATG5 ATG14
14 phosphatidylinositol 3-kinase complex, class III GO:0035032 8.8 PIK3R4 PIK3C3 ATG14

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol biosynthetic process GO:0006661 9.69 PIK3R4 PIK3C3 MTMR14
2 autophagosome assembly GO:0000045 9.63 PIK3C3 ATG5 ATG14
3 cellular response to starvation GO:0009267 9.62 PIK3C3 LAMP2 ATG5 ATG14
4 cellular response to glucose starvation GO:0042149 9.58 PIK3R4 PIK3C3 ATG14
5 cellular sodium ion homeostasis GO:0006883 9.56 ATP4A ATP12A
6 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.55 ATP4A ATP12A
7 macroautophagy GO:0016236 9.55 PIK3R4 PIK3C3 MTMR14 ATG5 ATG14
8 sodium ion export across plasma membrane GO:0036376 9.54 ATP4A ATP12A
9 toll-like receptor 9 signaling pathway GO:0034162 9.54 PIK3R4 PIK3C3 EPG5
10 cellular potassium ion homeostasis GO:0030007 9.52 ATP4A ATP12A
11 lysosomal lumen acidification GO:0007042 9.49 TMEM199 CCDC115
12 cellular response to increased oxygen levels GO:0036295 9.48 TMEM199 CCDC115
13 autophagy of peroxisome GO:0030242 9.43 PIK3R4 PIK3C3
14 vacuolar proton-transporting V-type ATPase complex assembly GO:0070072 9.43 VMA21 TMEM199 CCDC115
15 lysosomal protein catabolic process GO:1905146 9.13 TMEM199 LAMP2 CCDC115
16 autophagy GO:0006914 9.1 TFEB PIK3C3 LAMP2 EPG5 ATG5 ATG14

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

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 ATP4A ATP12A
2 potassium-transporting ATPase activity GO:0008556 8.96 ATP4A ATP12A
3 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP4A ATP12A

Sources for Myopathy, X-Linked, with Excessive Autophagy

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57 OMIM via Orphanet
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68 SNOMED-CT via HPO
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