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

Aliases & Descriptions for Myopathy, X-Linked, with Excessive Autophagy:

Name: Myopathy, X-Linked, with Excessive Autophagy 54 50 24 66 13 69
X-Linked Myopathy with Excessive Autophagy 12 50 24 56 29 14
Xmea 12 50 24 56 66
Vacuolar Myopathy 56 69
Meax 66

Characteristics:

Orphanet epidemiological data:

56
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:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 310440
Disease Ontology 12 DOID:0050760
Orphanet 56 ORPHA25980
ICD10 via Orphanet 34 G71.8
MedGen 40 C1839615
MeSH 42 D009135

Summaries for Myopathy, X-Linked, with Excessive Autophagy

OMIM : 54 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 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. Affiliated tissues include skeletal muscle and heart, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 50 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 : 66 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

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)
id Related Disease Score Top Affiliating Genes
1 danon disease 11.2
2 myopathy 10.6
3 frontonasal dysplasia 2 10.3 GAA LAMP2
4 functional diarrhea 10.2 ATP12A ATP4A
5 scrotum melanoma 10.2 ATP12A ATP4A
6 congenital diaphragmatic hernia 10.2 ATP12A ATP4A
7 secondary syphilis 10.2 ATP12A ATP4A
8 brain edema 10.2 ATP12A ATP4A
9 intracranial hypertension 10.2 ATP12A ATP4A
10 staphyloenterotoxemia 10.2 ATP12A ATP4A
11 microphthalmia, syndromic 12 10.2 ATP12A ATP4A
12 spastic paraplegia 34, x-linked 10.2 GAA LAMP2 VMA21
13 mosaic trisomy 1 10.2 EMD LAMP2
14 ceruminoma 10.2 ATP12A ATP4A
15 amyotrophic lateral sclerosis type 10 10.2 ATP12A ATP4A
16 retinitis pigmentosa 18 10.2 EMD LAMP2
17 synostosis 10.2 ATP12A ATP4A
18 adult extraosseous chondrosarcoma 10.2 ATP12A ATP4A
19 porencephaly, cerebellar hypoplasia, and internal malformations 10.2 ATP12A ATP4A
20 oculogyric crisis 10.2 ATP12A ATP4A
21 liver rhabdomyosarcoma 10.2 ATP12A ATP4A
22 mednik syndrome 10.2 ATP12A ATP4A
23 mucositis 10.2 ATP12A ATP4A
24 vasculitis 10.2 ATP12A ATP4A
25 autosomal recessive nonsyndromic deafness 47 10.2 DMD LAMA2
26 intravascular fasciitis 10.2 ATP12A ATP4A
27 bladder neck cancer 10.1 ATP12A ATP4A
28 acquired hemangioma 10.1 ATP12A ATP4A
29 cardiomyopathy, dilated, 1aa, with or without lvnc 10.1 DMD LAMA2
30 sudden infant death with dysgenesis of the testes syndrome 10.1 DMD LAMA2
31 gastroduodenal crohn's disease 10.1 ATP12A ATP4A
32 lymphocytic gastritis 10.1 ATP12A ATP4A
33 cardiomyopathy, familial restrictive, 3 10.1 DMD LAMA2
34 lateral sinus thrombosis 10.1 ATP12A ATP4A
35 cardiomyopathy, dilated, 1x 10.1 DMD LAMA2
36 mesenteric vascular occlusion 10.1 ATP12A ATP4A
37 glycogen storage disease 0, muscle 10.1 DMD LAMA2
38 acute gonococcal cervicitis 10.1 ATP12A ATP4A
39 baraitser-winter syndrome 2 10.1 DMD GAA LAMP2
40 scleral staphyloma 10.1 ATP12A ATP4A
41 lyme disease 10.1 DMD GNE
42 thrombocytopenia due to platelet alloimmunization 10.1 ATP12A ATP4A GNE
43 breast cystic hypersecretory carcinoma 10.0 ATP12A ATP4A
44 muscular dystrophy, rigid spine, 1 10.0 DMD GAA LAMA2
45 ovarian mucinous neoplasm 10.0 ATP12A ATP4A
46 dermatofibrosarcoma protuberans 10.0 DMD GNE LAMA2
47 lipodystrophy, familial partial, 2 10.0 DMD EMD LAMA2
48 parametrium malignant neoplasm 10.0 DMD EMD LAMA2
49 cardiomyopathy 10.0
50 abnormal pupillary function 10.0 ACHE 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 by clinical synopsis from OMIM:

310440

Clinical features from OMIM:

310440

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

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

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 DMD EMD GAA GNE LAMA2 LAMP2
2 growth/size/body region MP:0005378 9.76 ACHE ATP12A B2M DMD GAA GNE
3 homeostasis/metabolism MP:0005376 9.61 ACHE ATP12A ATP4A B2M DMD GAA
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:

id Genetic test Affiliating Genes
1 Myopathy, X-Linked, with Excessive Autophagy 29
2 X-Linked Myopathy with Excessive Autophagy 24 VMA21

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

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

39
Skeletal Muscle, Heart

Publications for Myopathy, X-Linked, with Excessive Autophagy

Variations for Myopathy, X-Linked, with Excessive Autophagy

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

6
id 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:

id 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:

id 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:

id 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:

id 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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