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Glycogen Storage Disease Type IIb (CUI C0878677) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0878677

NCI Thesaurus Code: C84735  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A genetic metabolic disorder causing hypertrophic cardiomyopathy. Mutations of the LAMP2 gene have been reported in association with this disease.

GARD Definition: Danon disease is a type of lysosomal storage disorder. Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by mutations in the LAMP2 gene. Danon disease is chiefly characterized by cardiomyopathy (heart disease), although other signs and symptoms may occur as well. Danon disease is inherited in an X-linked fashion, as a result males tend to be more severely affected than females. Females who carry the LAMP2 gene mutation may or may not develop signs and symptoms. - this information is from GARD/ORDR/NCATS.

MSH Definition: An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.

Synonyms & Abbreviations: (see Synonym Details)
Antopol disease
Cardiomyopathies, Glycogen Storage
Cardiomyopathy, Glycogen Storage
Danon disease (disorder)
Danon disease
Disease, Antopol
Glycogen Storage Cardiomyopathies
Glycogen storage cardiomyopathy
Glycogen storage disease due to LAMP-2 deficiency
Glycogen Storage Disease IIb
Glycogen storage disease limited to the heart
Glycogen storage disease type 2b (formerly)
Glycogen Storage Disease Type 2B
Glycogen Storage Disease Type IIb [Disease/Finding]
Glycogen Storage Disease Type IIb
Glycogenosis due to LAMP-2 deficiency
GSD due to LAMP-2 deficiency
GSD IIb, FORMERLY
GSD2B (formerly)
GSD2B, FORMERLY
Lysosomal glycogen storage disease with normal acid maltase activity
Lysosomal Glycogen Storage Disease with Normal Acid Maltase
Lysosomal glycogen storage disease without acid maltase deficiency (formerly)
LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY
Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency
Pseudoglycogenosis 2s
Pseudoglycogenosis 2
Pseudoglycogenosis IIs
Pseudoglycogenosis II
Vacuolar cardiomyopathy and myopathy X-linked
Vacuolar Cardiomyopathy and Myopathy, X linked
Vacuolar Cardiomyopathy and Myopathy, X-linked
X Linked Vacuolar Cardiomyopathy and Myopathy
X-linked vacuolar cardiomyopathy and myopathy

External Source Codes: 
NCI Thesaurus Code C84735 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID XUdMI SNOMEDCT_US
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
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 2163 GARD
DISEASE_IDENTIFIER_ID 2164 GARD
DISEASE_IDENTIFIER_ID 2165 GARD
DISEASE_IDENTIFIER_ID 2166 GARD
DISEASE_IDENTIFIER_ID 2167 GARD
DISEASE_IDENTIFIER_ID 2168 GARD
DISEASE_IDENTIFIER_ID 2169 GARD
DISEASE_IDENTIFIER_ID 2170 GARD
DISEASE_IDENTIFIER_ID 2171 GARD
DISEASE_IDENTIFIER_ID 32861 GARD
DISEASE_IDENTIFIER_ID 32862 GARD
DISEASE_IDENTIFIER_ID 32863 GARD
DISEASE_IDENTIFIER_ID 32864 GARD
DX 20060101 MSH
EFFECTIVE_TIME 20060131 SNOMEDCT_US
GENELOCUS ,X,q,2,4, OMIM
GENESYMBOL LAMP2 OMIM
GENESYMBOL LAMPB OMIM
GENESYMBOL LGP110 OMIM
HAS_GARD_PAGE true GARD
HN 2006 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2010-03-24T00:00:00 GARD
MDA 20050630 MSH
MESH_DEFINITION An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2. NDFRT
MESH_DUI D052120 NDFRT
MESH_NAME Glycogen Storage Disease Type IIb NDFRT
MESH_UI M0483279 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.597.606.643.455.562 MSH
MN C14.280.238.458 MSH
MN C16.320.322.201 MSH
MN C16.320.565.202.449.510 MSH
MN C18.452.648.202.449.510 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MOVED_FROM 153360 OMIM
MOVED_FROM 232330 OMIM
MOVED_FROM 309660 OMIM
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000171678 NDFRT
PM 2006 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/9730/danon-disease/resources/1 GARD
RXAUI 3143096 RXNORM
RXAUI 3166362 RXNORM
RXAUI 3166372 RXNORM
RXAUI 3166373 RXNORM
RXAUI 3254494 RXNORM
RXAUI 3256679 RXNORM
RXAUI 3287394 RXNORM
RXAUI 3287396 RXNORM
RXAUI 3606266 RXNORM
RXAUI 4222121 RXNORM
RXAUI 4222938 RXNORM
RXAUI 4223339 RXNORM
RXAUI 5039869 RXNORM
RXAUI 5931379 RXNORM
RXCUI 1024356 RXNORM
SMQ_TERM_ADDVERSION 15.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 15.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 419097006 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E74.0 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~E74.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E74.09 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E74.09 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUdMI SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T636551 MSH
TERMUI T636552 MSH
TERMUI T636553 MSH
TERMUI T636554 MSH
TERMUI T636555 MSH
TERMUI T740450 MSH
TERMUI T750966 MSH
TERMUI T753147 MSH
TERMUI T781447 MSH
TERMUI T781448 MSH
TERMUI T781449 MSH
TERMUI T824567 MSH
TERMUI T841247 MSH
TH GHR (2014) MSH
TH NLM (2006) MSH
TH NLM (2010) MSH
TH NLM (2012) MSH
TH OMIM (2013) MSH
TH ORD (2010) 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=C0878677

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