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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/310440
http://purl.bioontology.org/ontology/OMIM/310440
|
|---|---|
| Preferred Name | MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY |
| Synonyms |
MEAX
XMEA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MEAX
XMEA
|
|---|---|
| prefLabel | MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY
|
| Gene Symbol |
VMA21
XMEA
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
Onset usually in early childhood (but can range from infancy to adulthood) [MISCELLANEOUS]
Caused by mutation in the homolog of the S. cerevisiae VMA21 gene (VMA21, 300913.0001) [MOLECULAR BASIS]
Incomplete penetrance, some individuals have only EMG changes without other clinical signs [MISCELLANEOUS]
Upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade) [MISCELLANEOUS]
By fourth decade, many patients need help with ambulation [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq28
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 310440
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1839615
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |