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NCIm Version: 201706 (Browser Version 2.9, using LexEVS 6.5.1)
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Vacuolar myopathy (CUI C2931230) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C2931230

Semantic Type: Disease or Syndrome

Synonyms & Abbreviations: (see Synonym Details)
Autophagic vacuolar myopathy
AVM
Myopathy, Autophagic Vacuolar, Infantile-Onset
Vacuolar myopathy

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DISEASE_IDENTIFIER_ID 16283 GARD
DISEASE_IDENTIFIER_ID 16284 GARD
DISEASE_IDENTIFIER_ID 31902 GARD
FR 29 MSH
HAS_GARD_PAGE true GARD
HM D009135 MSH
HM D016464 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 20100825 MSH
MIMTYPE 5 OMIM
MIMTYPEMEANING Mendelian phenotype or locus, molecular basis unknown. OMIM
MIMTYPEVALUE perc OMIM
MMR 20150818 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5444/vacuolar-myopathy/resources/1 GARD
RN 0 MSH
SC 3 MSH
SOS A myopathy and lysosomal storage disease that is characterized by increased glycogen staining of cardiac and skeletal muscles but normal ACID MALTASE and LAMP2 PROTEIN staining. Biopsy shows intracytoplasmic vacuoles that stain for sarcolemmal proteins and COMPLEMENT SYSTEM PROTEINS. Affected individuals may also have increased serum CREATINE KINASE and exhibit DEVELOPMENTAL DELAY, though many die in early infancy. May be isolated or autosomal recessive. OMIM: 609500 MSH
TERMUI T739595 MSH
TERMUI T739596 MSH
TERMUI T803429 MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C2931230

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