Myopathy, X-Linked, with Excessive Autophagy malady
Rare diseases, Neuronal diseases categories
Aliases & Descriptions for Myopathy, X-Linked, with Excessive Autophagy:
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Global: Rare diseases
Anatomical: Neuronal diseases
Rare neurological diseases
Characteristics (Orphanet epidemiological data):48
x-linked myopathy with excessive autophagy:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy
NIH Rare Diseases:42 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 slowly worsens over time. weakness involving the upper legs, affecting activities such as running and climbing stairs, may be noticed first. as the condition progresses, men with xmea may experience weakness in their lower legs and arms. some people with xmea remain able to walk in advanced age, while others require assistance in adulthood. it is caused by mutations in the vma21 gene and is inherited in an x-linked recessive fashion. last updated: 10/10/2011
MalaCards based summary: Myopathy, X-Linked, with Excessive Autophagy, also known as x-linked myopathy with excessive autophagy, is related to myopathy and danon disease, and has symptoms including x-linked recessive inheritance, myotonia and myopathy. An important gene associated with Myopathy, X-Linked, with Excessive Autophagy is VMA21 (VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)).
OMIM:46 Sugie et al. (2005) classified X-linked myopathy with excessive autophagy (XMEA) as a form of autophagic vacuolar... (310440) more...
Diseases related to Myopathy, X-Linked, with Excessive Autophagy via text searches within MalaCards or GeneCards Suite gene sharing:(show all 19)
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HPO human phenotypes related to Myopathy, X-Linked, with Excessive Autophagy:(show all 10)
Search GEO for disease gene expression data for Myopathy, X-Linked, with Excessive Autophagy.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet