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MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (disorder) (CUI C1839615) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C1839615

Semantic Type: Disease or Syndrome

GARD Definition: 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. - this information is from GARD/ORDR/NCATS.

SNOMEDCT_US Definition: This myopathy is a childhood-onset X-linked myopathy with characteristics of slow progression of muscle weakness and unique histopathological findings. It has been described in about fifteen families The first manifestations appear typically in children around 5-10 years of age and include difficulty climbing stairs and running. Transmission is X-linked recessive; female carriers are asymptomatic or only mildly affected. The Xq28 locus has been associated with the disease.

Synonyms & Abbreviations: (see Synonym Details)
MEAX
MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (disorder)
Myopathy, X-linked, with excessive autophagy
Vacuolar myopathy
X-linked myopathy with excessive autophagy (disorder)
X-linked myopathy with excessive autophagy
XMEA

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CTV3ID XUu3R SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 13070 GARD
DISEASE_IDENTIFIER_ID 13071 GARD
EFFECTIVE_TIME 20170131 SNOMEDCT_US
FR 2 MSH
GENELOCUS ,X,q,2,8, OMIM
GENESYMBOL VMA21 OMIM
GENESYMBOL XMEA OMIM
HAS_GARD_PAGE true GARD
HM D009135 MSH
HM D040181 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 20121105 MSH
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/3892/x-linked-myopathy-with-excessive-autophagy/resources/1 GARD
RN 0 MSH
SC 3 MSH
SNOMEDID R0-0056F SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G71.8 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~G71.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUu3R SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~R0-0056F SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T829102 MSH
TH OMIM (2013) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C1839615

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