MCID: MYP100
MIFTS: 44

Myopathy, X-Linked, with Excessive Autophagy

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle 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 53 72 49 71 28 13 69
Xmea 53 12 49 55 71
X-Linked Myopathy with Excessive Autophagy 12 49 55 14
Vacuolar Myopathy 55 69
Meax 53 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
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 incomplete penetrance slow progression
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 310440
Disease Ontology 12 DOID:0050760
Orphanet 55 ORPHA25980
UMLS via Orphanet 70 C2931230 C1839615
ICD10 via Orphanet 33 G71.8
MedGen 39 C1839615
MeSH 41 D009135

Summaries for Myopathy, X-Linked, with Excessive Autophagy

OMIM : 53 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, and has symptoms including respiratory insufficiency, scoliosis and neonatal hypotonia. An important gene associated with Myopathy, X-Linked, with Excessive Autophagy is VMA21 (VMA21, Vacuolar ATPase Assembly Factor), 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 behavior/neurological and growth/size/body region

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 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

Wikipedia : 72 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 79)
# Related Disease Score Top Affiliating Genes
1 danon disease 31.8 GAA LAMP2 VMA21
2 myopathy 28.0 DMD EMD GAA GNE LAMA2 LAMP2
3 myopathy, autophagic vacuolar, infantile-onset 10.9
4 phosphatase, acid, of tissues 10.5 GAA LAMP2
5 fungal esophagitis 10.4 ATP12A ATP4A
6 bladder calculus 10.4 ATP12A ATP4A
7 gastrointestinal neuroendocrine benign tumor 10.4 ATP12A ATP4A
8 gastric neuroendocrine neoplasm 10.4 ATP12A ATP4A
9 neonatal candidiasis 10.4 ATP12A ATP4A
10 photoallergic dermatitis 10.4 ATP12A ATP4A
11 squamous papillomatosis 10.4 ATP12A ATP4A
12 acute laryngitis 10.4 ATP12A ATP4A
13 gastroduodenal crohn's disease 10.4 ATP12A ATP4A
14 toxic megacolon 10.4 ATP12A ATP4A
15 aspiration pneumonitis 10.4 ATP12A ATP4A
16 gastric antral vascular ectasia 10.4 ATP12A ATP4A
17 esophageal candidiasis 10.4 ATP12A ATP4A
18 postsurgical hypothyroidism 10.4 ATP12A ATP4A
19 laryngeal disease 10.4 ATP12A ATP4A
20 duodenitis 10.4 ATP12A ATP4A
21 congenital disorder of deglycosylation 10.4 ATP12A ATP4A
22 bile reflux 10.4 ATP12A ATP4A
23 granulomatous gastritis 10.4 ATP12A ATP4A
24 active peptic ulcer disease 10.4 ATP12A ATP4A
25 dyskinesia of esophagus 10.4 ATP12A ATP4A
26 ischemic neuropathy 10.4 ATP12A ATP4A
27 anismus 10.4 ATP12A ATP4A
28 capillary disease 10.4 ATP12A ATP4A
29 peptic esophagitis 10.4 ATP12A ATP4A
30 duodenal disease 10.4 ATP12A ATP4A
31 hernia, hiatus 10.4 ATP12A ATP4A
32 esophageal atresia/tracheoesophageal fistula 10.4 ATP12A ATP4A
33 laryngitis 10.4 ATP12A ATP4A
34 lymphocytic colitis 10.4 ATP12A ATP4A
35 chronic intestinal vascular insufficiency 10.3 ATP12A ATP4A
36 clostridium difficile colitis 10.3 ATP12A ATP4A
37 lower urinary tract calculus 10.3 ATP12A ATP4A
38 diarrhea 1, secretory chloride, congenital 10.3 ATP12A ATP4A
39 polyposis, skin pigmentation, alopecia, and fingernail changes 10.3 ATP12A ATP4A
40 aspiration pneumonia 10.3 ATP12A ATP4A
41 chronic laryngitis 10.3 ATP12A ATP4A
42 esophageal varix 10.3 ATP12A ATP4A
43 eosinophilic gastritis 10.3 ATP12A ATP4A
44 esophagus adenocarcinoma 10.3 ATP12A ATP4A
45 jejunoileitis 10.3 ATP12A ATP4A
46 pancreatic steatorrhea 10.3 ATP12A ATP4A
47 pneumatosis cystoides intestinalis 10.3 ATP12A ATP4A
48 superior mesenteric artery syndrome 10.3 ATP12A ATP4A
49 functional gastric disease 10.3 ATP12A ATP4A
50 lateral medullary syndrome 10.3 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

Symptoms via clinical synopsis from OMIM:

53
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

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

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

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ACHE DMD EMD GAA GNE LAMA2
2 growth/size/body region MP:0005378 9.76 ACHE ATP12A B2M DMD GAA GNE
3 homeostasis/metabolism MP:0005376 9.65 ACHE ATP12A ATP4A B2M DMD EMD
4 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 28 VMA21

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

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

38
Skeletal Muscle, Heart

Publications for Myopathy, X-Linked, with Excessive Autophagy

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

(show all 16)
# Title Authors Year
1
Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA. ( 27566744 )
2016
2
X-linked myopathy with excessive autophagy: a failure of self-eating. ( 25644398 )
2015
3
Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy. ( 25683699 )
2015
4
No cardiomyopathy in X-linked myopathy with excessive autophagy. ( 25845477 )
2015
5
Muscle MRI abnormalities in X-linked myopathy with excessive autophagy. ( 25809233 )
2015
6
Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy. ( 25817839 )
2015
7
Late adult-onset of X-linked myopathy with excessive autophagy. ( 24488655 )
2014
8
Elevated urinary I^2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy. ( 23850239 )
2013
9
Fine-mapping the gene for X-linked myopathy with excessive autophagy. ( 18794500 )
2008
10
Case of X-linked myopathy with excessive autophagy. ( 16901453 )
2006
11
Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy. ( 15753448 )
2005
12
Electrophysiological findings in X-linked myopathy with excessive autophagy. ( 12112116 )
2002
13
Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. ( 12196656 )
2002
14
X-linked myopathy with excessive autophagy: a clinicopathological study of five new families. ( 11369189 )
2001
15
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. ( 10757644 )
2000
16
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
# 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.54-27A> C single nucleotide variant Pathogenic rs878854352 GRCh38 Chromosome X, 151403604: 151403604
3 VMA21 NM_001017980.3(VMA21): c.54-27A> T single nucleotide variant Pathogenic rs878854352 GRCh38 Chromosome X, 151403604: 151403604
4 VMA21 NM_001017980.3(VMA21): c.164-7T> G single nucleotide variant Pathogenic rs878854353 GRCh38 Chromosome X, 151404909: 151404909
5 VMA21 NM_001017980.3(VMA21): c.272G> C (p.Gly91Ala) single nucleotide variant Pathogenic rs878854354 GRCh37 Chromosome X, 150573496: 150573496
6 VMA21 NM_001017980.3(VMA21): c.*6A> G single nucleotide variant Pathogenic rs878854355 GRCh38 Chromosome X, 151405064: 151405064
7 VMA21 NM_001017980.3(VMA21): c.164-6T> G single nucleotide variant Pathogenic rs878854356 GRCh38 Chromosome X, 151404910: 151404910
8 VMA21 NM_001017980.3(VMA21): c.*13_*104del deletion Pathogenic
9 VMA21 NM_001017980.3(VMA21): c.54-16_54-8del deletion Pathogenic rs878854357 GRCh37 Chromosome X, 150572087: 150572095

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
11.37 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 basal lamina GO:0005605 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 9.26 DMD GAA
2 muscle organ development GO:0007517 9.26 ACHE DMD EMD LAMA2
3 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.16 ATP12A ATP4A
4 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 hydrogen:potassium-exchanging ATPase activity GO:0008900 8.62 ATP12A ATP4A

Sources for Myopathy, X-Linked, with Excessive Autophagy

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70 UMLS via Orphanet
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