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Glycogen storage disease type II (CUI C0017921) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0017921

NCI Thesaurus Code: C84734  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the enzyme acid alpha-glucosidase. It results in the abnormal accumulation of glycogen in the heart, skeletal muscles, liver, and nervous system.

LNC Definition: Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.

GARD Definition: Glycogen storage disease type 2, also known as Pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder caused by an inborn lack of the enzyme acid alpha-glucosidase (also known as acid maltase), which is necessary to break down glycogen, a substance that is a source of energy for the body. This enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes, which are structures within cells that break down waste products within the cell. This accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.  Glycogen storage disease type 2 is a single disease continuum with variable rates of disease progression. In 2006, the U.S. Food and Drug Administration (FDA) approved the enzyme replacement therapy Myozyme as a treatment for all patients with glycogen storage disease type 2. Another similar drug called Lumizyme has recently been approved for the treatment this disease.  
  - this information is from GARD/ORDR/NCATS.

SNOMEDCT_US Definition: Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes.

CSP Definition: autosomal recessively inherited glycogen storage disease caused by glucan 1,4-alpha-glucosidase deficiency; large amounts of glycogen accumulate in the lysosomes of skeletal muscle, heart, liver, spinal cord, and brain; three forms have been described: the infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy; the childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms; the adult form consists of a slowly progressive proximal myopathy.

MSH Definition: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)

Synonyms & Abbreviations: (see Synonym Details)
Acid Alpha Glucosidase Deficiency
Acid Alpha-Glucosidase Deficiencies
Acid Alpha-Glucosidase Deficiency
ACID MALTASE DEFIC DIS
Acid Maltase Deficiencies
Acid maltase deficiency disease
acid maltase deficiency
Aglucosidase alfa
alpha 1,4 glucosidase deficiency
ALPHA GLUCOSIDASE DEFICIENCY
Alpha-1,4-glucosidase acid deficiency
Alpha-1,4-Glucosidase Deficiencies
Alpha-1,4-glucosidase deficiency
Alpha-Glucosidase Deficiencies, Acid
Alpha-Glucosidase Deficiencies
Alpha-Glucosidase Deficiency, Acid
ALPHA-GLUCOSIDASE DEFICIENCY
AMD
DEFIC DIS ACID MALTASE
DEFIC DIS LYSOSOMAL ALPHA 1 4 GLUCOSIDASE
Deficiencies, Acid Alpha-Glucosidase
Deficiencies, Acid Maltase
Deficiencies, Alpha-1,4-Glucosidase
Deficiencies, GAA
Deficiency Disease, Acid Maltase
Deficiency Disease, Lysosomal alpha-1,4-Glucosidase
Deficiency of acid maltase
Deficiency of Alpha Glucosidase
Deficiency of alpha-glucosidase (disorder)
Deficiency of alpha-glucosidase
Deficiency of amyloglucosidase
Deficiency of exo-1,4-alpha-glucosidase
Deficiency of gamma-amylase
Deficiency of glucan 1,4-alpha-glucosidase (disorder)
Deficiency of glucan 1,4-alpha-glucosidase
Deficiency of glucoamylase
Deficiency of glucoinvertase
Deficiency of glucosidosucrase
Deficiency of lysosomal alpha-glucosidase
Deficiency of maltase
Deficiency, Acid Alpha-Glucosidase
Deficiency, Acid Maltase
Deficiency, Alpha-1,4-Glucosidase
Deficiency, GAA
Disease, Pompe's
Disease, Pompe
GAA Deficiencies
GAA Deficiency
GAA
Generalised glycogenosis
Generalized glycogen storage disease of infants
Generalized Glycogenoses
Generalized glycogenosis (disorder)
generalized glycogenosis
Glucosidase acid-1,4-alpha deficiency
GLYCOGEN STORAGE DIS II
Glycogen storage disease due to acid maltase deficiency
Glycogen Storage Disease II
Glycogen storage disease type 2
Glycogen Storage Disease Type II [Disease/Finding]
glycogen storage disease type II
Glycogen storage disease, type II (disorder)
Glycogen storage disease, type II
Glycogenoses, Generalized
GLYCOGENOSIS 02
Glycogenosis 2
Glycogenosis due to acid maltase deficiency
Glycogenosis type 2
glycogenosis type II
Glycogenosis, Generalized
GLYCOGENOSIS, TYPE II
GSD due to acid maltase deficiency
GSD II
GSD type 2
GSD2s
GSD2
LYSOSOMAL ALPHA 1 4 GLUCOSIDASE DEFIC DIS
Lysosomal alpha 1,4 Glucosidase Deficiency Disease
LYSOSOMAL ALPHA GLUCOSIDASE DEFICIENCY DISEASE 01 04
Lysosomal alpha-1,4-Glucosidase Deficiency Disease
LYSOSOMAL GLUCOSIDASE DEFICIENCY
Maltase Deficiencies, Acid
POMPE DISEASE
POMPE DIS
Pompe's disease
Pompes Disease
POMPES DIS
Type II glycogen storage disease
Type II, Glycogenosis
Type IIs, Glycogenosis

External Source Codes: 
NCI Thesaurus Code C84734 (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 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CTV3ID XE11G SNOMEDCT_US
CTV3ID XU3mr SNOMEDCT_US
CTV3ID XU6DF SNOMEDCT_US
CTV3ID XU6DO 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
DID 1849-3836 CSP
DISEASE_IDENTIFIER_ID 16942 GARD
DISEASE_IDENTIFIER_ID 16943 GARD
DISEASE_IDENTIFIER_ID 16944 GARD
DISEASE_IDENTIFIER_ID 16945 GARD
DISEASE_IDENTIFIER_ID 16947 GARD
DISEASE_IDENTIFIER_ID 16948 GARD
DISEASE_IDENTIFIER_ID 16949 GARD
DISEASE_IDENTIFIER_ID 32933 GARD
DISEASE_IDENTIFIER_ID 32934 GARD
DISEASE_IDENTIFIER_ID 32935 GARD
DISEASE_IDENTIFIER_ID 32936 GARD
DISEASE_IDENTIFIER_ID 32937 GARD
DISEASE_IDENTIFIER_ID 32938 GARD
DX 19890101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXTERNALLY_DEFINED N LNC
FX D005087 MSH
GENELOCUS ,1,7,q,2,5,.,2,-,q,2,5,.,3, OMIM
GENESYMBOL GAA OMIM
GLOBAL_ID 237968007 LNC
GLOBAL_ID_CODE_SYSTEM SCT LNC
HAS_GARD_PAGE true GARD
HN 1989(1975); use GLYCOGENOSIS 1975-1988 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
LAST_REVIEW_DATE 2013-10-10T00:00:00 GARD
MDA 19741212 MSH
MESH_DEFINITION An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4) NDFRT
MESH_DUI D006009 NDFRT
MESH_NAME Glycogen Storage Disease Type II NDFRT
MESH_UI M0009470 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.228.140.163.100.435.340 MSH
MN C16.320.565.189.435.340 MSH
MN C16.320.565.202.449.500 MSH
MN C16.320.565.595.554.340 MSH
MN C18.452.132.100.435.340 MSH
MN C18.452.648.189.435.340 MSH
MN C18.452.648.202.449.500 MSH
MN C18.452.648.595.554.340 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001362 NDFRT
ORDER_NO 04608 ICD10CM
PM 1989; see GLYCOGENOSIS 1975-88 MSH
PRIMARY_PATH 10053185$10021604$10027424$10010331$Glycogen storage disease type II$Inborn errors of carbohydrate metabolism (excl glucose)$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/2503/glucosidase-acid-14-alpha-deficiency/resources/1 GARD
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5714/glycogen-storage-disease-type-2/resources/1 GARD
RXAUI 3105065 RXNORM
RXAUI 3144790 RXNORM
RXAUI 3144831 RXNORM
RXAUI 3165129 RXNORM
RXAUI 3166365 RXNORM
RXAUI 3166366 RXNORM
RXAUI 3166404 RXNORM
RXAUI 3166412 RXNORM
RXAUI 3191086 RXNORM
RXAUI 3222470 RXNORM
RXAUI 3222471 RXNORM
RXAUI 3287395 RXNORM
RXAUI 5038597 RXNORM
RXAUI 5039379 RXNORM
RXAUI 5039389 RXNORM
RXAUI 5039406 RXNORM
RXAUI 5930697 RXNORM
RXAUI 5931013 RXNORM
RXCUI 1022537 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 124454007 NDFRT
SNOMED_CID 124462004 NDFRT
SNOMED_CID 237967002 NDFRT
SNOMED_CID 267424007 NDFRT
SNOMED_CID 274864009 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E74.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E88.0 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE 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 447562003~MAPTARGET~E88.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E88.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E74.00 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E74.02 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~E74.00 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E74.02 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XE11G SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU3mr SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU6DF SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU6DO 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 T018259 MSH
TERMUI T018260 MSH
TERMUI T018261 MSH
TERMUI T018262 MSH
TERMUI T018263 MSH
TERMUI T368341 MSH
TERMUI T368342 MSH
TERMUI T368343 MSH
TERMUI T368344 MSH
TERMUI T368346 MSH
TERMUI T750078 MSH
TERMUI T750952 MSH
TERMUI T750953 MSH
TERMUI T811567 MSH
TERMUI T822992 MSH
TERMUI T822993 MSH
TERMUI T822994 MSH
TERMUI T842298 MSH
TERMUI T844616 MSH
TH GHR (2014) MSH
TH NLM (1975) MSH
TH NLM (2000) MSH
TH NLM (2010) MSH
TH NLM (2013) MSH
TH NLM (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) 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=C0017921

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