MCID: MYP100
MIFTS: 37

Myopathy, X-Linked, with Excessive Autophagy malady

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

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

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

Name: Myopathy, X-Linked, with Excessive Autophagy 49 11 45 22 67 65
X-Linked Myopathy with Excessive Autophagy 10 45 22 12 51 24
Xmea 10 45 22 51 67
 
Vacuolar Myopathy 51 65
Meax 67

Characteristics:

Orphanet epidemiological data:

51
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:

61
myopathy, x-linked, with excessive autophagy:
Onset and clinical course: incomplete penetrance, slow progression
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 310440
Disease Ontology10 DOID:0050760
Orphanet51 25980
ICD10 via Orphanet28 G71.8
MedGen34 C1839615
MeSH36 D009135
UMLS65 C1839615, C2931230

Summaries for Myopathy, X-Linked, with Excessive Autophagy

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OMIM:49 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 myopathy and parietal foramina 2, and has symptoms including difficulty running, proximal muscle weakness in lower limbs and difficulty climbing stairs. An important gene associated with Myopathy, X-Linked, with Excessive Autophagy is VMA21 (VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)), and among its related pathways is Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include skeletal muscle, heart and breast, and related mouse phenotypes are muscle and cardiovascular system.

NIH Rare Diseases:45 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:67 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

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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)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.7
2parietal foramina 210.6GAA, LAMP2
3syndromic intellectual disability10.5DNAH8, GNE
4hepatic vein thrombosis10.4ATP12A, ATP4A
5trichothiodystrophy 5, nonphotosensitive10.4GAA, LAMP2, VMA21
6phlebotomus fever10.4ATP12A, ATP4A
7venezuelan equine encephalitis10.4ATP12A, ATP4A
8subareolar duct papillomatosis10.4ATP12A, ATP4A
9acute cystitis10.4ATP12A, ATP4A
10epiglottitis10.4ATP12A, ATP4A
11crohn's colitis10.4ATP12A, ATP4A
12toxicodendron dermatitis10.4ATP12A, ATP4A
13pericardial effusion10.4ATP12A, ATP4A
14esophagitis10.4ATP12A, ATP4A
15cervical dystonia10.4ATP12A, ATP4A
16duodenal obstruction10.4ATP12A, ATP4A
17krukenberg carcinoma10.4ATP12A, ATP4A
18danon disease10.4
19prostate carcinoma in situ10.3ATP12A, ATP4A
20gastrointestinal tuberculosis10.3ATP12A, ATP4A
21peritoneal serous papillary adenocarcinoma10.3ATP12A, ATP4A
22vestibulocochlear nerve disease10.3ATP12A, ATP4A
23spinocerebellar ataxia 1810.3ATP12A, ATP4A
24ileitis10.3ATP12A, ATP4A
25eosinophilic gastroenteritis10.3ATP12A, ATP4A
26basophilic carcinoma10.3ATP12A, ATP4A
27muscular dystrophy, rigid spine, 110.3DMD, GAA
28protein-losing enteropathy10.3ATP12A, ATP4A
29bronchus cancer10.3ATP12A, ATP4A
30hcl-v10.3ATP12A, ATP4A
31periductal breast myoepitheliosis10.3ATP12A, ATP4A
32bladder lateral wall cancer10.3ATP12A, ATP4A
33angiodysplasia10.3ATP12A, ATP4A
34speech disorder10.2ATP12A, ATP4A
35megacolon10.2ATP12A, ATP4A
36central nervous system childhood germ cell tumor10.2ATP12A, ATP4A
37labyrinthine unilateral reactive loss10.2ATP12A, ATP4A
38anterior compartment syndrome10.2ATP12A, ATP4A
39pyomyositis10.1ATP12A, ATP4A
40cardiomyopathy10.1
41limb-girdle muscular dystrophy10.1DMD, GNE
42infiltrating bladder lymphoepithelioma-like carcinoma10.1ATP12A, ATP4A
43deafness, autosomal dominant 20/2610.1DMD, GAA, LAMP2
44muscular dystrophy-dystroglycanopathy , type b, 410.0DMD, LAMA2
45acute chest syndrome10.0ATP12A, ATP4A, GNE
46lymphoma, malt, somatic10.0ATP12A, ATP4A
47cerebritis9.9EMD, GNE, LAMA2
48malignant cardiac peripheral nerve sheath neoplasm9.9B2M, DNAH8
49mitochondrial metabolism disease9.8ATP12A, ATP4A, DMD
50immunodeficiency 34, mycobacteriosis, x-linked9.7DMD, LAMA2

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 for Myopathy, X-Linked, with Excessive Autophagy

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Symptoms by clinical synopsis from OMIM:

310440

Clinical features from OMIM:

310440

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

(show all 7)
id Description Frequency HPO Source Accession
1 difficulty running HP:0009046
2 proximal muscle weakness in lower limbs HP:0008994
3 difficulty climbing stairs HP:0003551
4 elevated serum creatine phosphokinase HP:0003236
5 skeletal muscle atrophy HP:0003202
6 myopathy HP:0003198
7 myotonia HP:0002486

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 X-Linked Myopathy with Excessive Autophagy22 VMA21

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

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

33
Skeletal muscle, Heart, Breast, Prostate

Animal Models for Myopathy, X-Linked, with Excessive Autophagy or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.5DMD, EMD, GAA, GNE, LAMA2, LAMP2
2MP:00053857.5B2M, DMD, EMD, GAA, GNE, LAMP2
3MP:00053766.5ATP12A, ATP4A, B2M, DMD, GAA, GNE

Publications for Myopathy, X-Linked, with Excessive Autophagy

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Variations for Myopathy, X-Linked, with Excessive Autophagy

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1VMA21VMA21, IVS1, A-C, -27single nucleotide variantPathogenic
2VMA21VMA21, IVS1, A-T, -27single nucleotide variantPathogenic
3VMA21VMA21, IVS2, A-G, +4single nucleotide variantPathogenic
4VMA21VMA21, IVS2, T-G, -7single nucleotide variantPathogenic
5VMA21VMA21, 272G-Csingle nucleotide variantPathogenic
6VMA21VMA21, TER+6, A-Gsingle nucleotide variantPathogenic
7VMA21VMA21, IVS2, T-G, -6single nucleotide variantPathogenic
8VMA21VMA21, 92-BP DEL, NT13deletionPathogenic
9VMA21VMA21, 9-BP DEL, NT54deletionPathogenic

Expression for genes affiliated with Myopathy, X-Linked, with Excessive Autophagy

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

Pathways for genes affiliated with Myopathy, X-Linked, with Excessive Autophagy

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

idSuper pathwaysScoreTop Affiliating Genes
19.3DMD, LAMA2

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

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

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:00057649.9LAMP2, VMA21

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

idNameGO IDScoreTop Affiliating Genes
1potassium ion transportGO:00068139.8ATP12A, ATP4A
2cardiac muscle contractionGO:00600489.5DMD, GAA
3potassium ion importGO:00101079.5ATP12A, ATP4A

Sources for Myopathy, X-Linked, with Excessive Autophagy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet