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Glycogen Storage Disease Type III (CUI C0017922) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0017922

NCI Thesaurus Code: C84736  (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 glycogen debranching enzyme. It results in the accumulation of structurally abnormal glycogen in the heart, skeletal muscles, and/or liver.

GARD Definition: Glycogen storage disease type 3 (GSDIII) is an inherited disorder caused by the buildup of glycogen in the body's cells. This buildup impairs the function of certain organs and tissues, especially the liver and muscles. Symptoms typically begin in infancy and may include hypoglycemia, hyperlipidemia (excess of fats in the blood), and elevated blood levels of liver enzymes; later symptoms may include hepatomegaly, chronic liver disease (cirrhosis) and liver failure later in life. Some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver. GSDIII is cause by mutations in the AGL gene and is inherited in an autosomal recessive manner. Treatment typically includes a high-protein diet with cornstarch supplementation to maintain a normal level of glucose in the blood. GSDIII is divided into types IIIa, IIIb, IIIc, and IIId; types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver. - this information is from GARD/ORDR/NCATS.

CSP Definition: autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase; clinical course is similar to that of glycogen storage disease type I, but milder; massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age; levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes.

MSH Definition: An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.

Synonyms & Abbreviations: (see Synonym Details)
AGL DEFICIENCY
amylo 1,6 glucosidase deficiency
Amylo-1,6-Glucosidase Deficiencies
Amylo-1,6-Glucosidase Deficiency
CORI DISEASE, TYPE III
CORI DISEASE
CORI DIS
Cori's disease
Cori-Forbes disease
Coris Disease
CORIS DIS
Debrancher Deficiencies, Glycogen
Debrancher Deficiencies
Debrancher deficiency glycogen storage disease
Debrancher Deficiency, Glycogen
debrancher deficiency
DEBRANCHER DEFIC
DEBRANCHER ENZYME DEFICIENCY
debrancher glycogen storage disease
DEFIC DEBRANCHER
Deficiencies, Amylo-1,6-Glucosidase
Deficiencies, Debrancher
Deficiencies, Glycogen Debrancher
Deficiency of 6-alpha-D-glucosidase
Deficiency of amylo-1,6-glucosidase (disorder)
Deficiency of amylo-1,6-glucosidase
Deficiency of dextrin
Deficiency, Amylo-1,6-Glucosidase
Deficiency, Debrancher
Deficiency, Glycogen Debrancher
Dextrinoses, Limit
Dextrinosis, Limit
Disease, Cori's
Disease, Cori
Disease, Forbes
FORBES DISEASE
FORBES DIS
Forbes' disease
GDE deficiency
Glycogen Debrancher Deficiencies
Glycogen debrancher deficiency
Glycogen Debranching Enzyme Deficiency
GLYCOGEN DEBRANCHING ENZYME DEFIC
GLYCOGEN STORAGE DIS III
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen Storage Disease III
Glycogen storage disease type 3
Glycogen Storage Disease Type III [Disease/Finding]
glycogen storage disease type III
Glycogen storage disease, type III (disorder)
Glycogen storage disease, type III
GLYCOGENOSIS 03
Glycogenosis 3s
Glycogenosis 3
Glycogenosis due to glycogen debranching enzyme deficiency
Glycogenosis type 3
glycogenosis type III
GSD due to glycogen debranching enzyme deficiency
GSD III
GSD type 3
GSD3
GSDIII
Limit dextrin - glycogen
Limit Dextrinoses
limit dextrinosis
Type III glycogen storage disease

External Source Codes: 
NCI Thesaurus Code C84736 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not use /congen & do not coord with INFANT, NEWBORN, DISEASES MSH
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 XU6DY SNOMEDCT_US
CTV3ID XUIee 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 1849-3893 CSP
DISEASE_IDENTIFIER_ID 11560 GARD
DISEASE_IDENTIFIER_ID 11561 GARD
DISEASE_IDENTIFIER_ID 11562 GARD
DISEASE_IDENTIFIER_ID 11564 GARD
DISEASE_IDENTIFIER_ID 32939 GARD
DISEASE_IDENTIFIER_ID 32940 GARD
DISEASE_IDENTIFIER_ID 32941 GARD
DISEASE_IDENTIFIER_ID 32942 GARD
DISEASE_IDENTIFIER_ID 32943 GARD
DISEASE_IDENTIFIER_ID 32944 GARD
DISEASE_IDENTIFIER_ID 32945 GARD
DISEASE_IDENTIFIER_ID 32946 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,p,2,1, OMIM
GENESYMBOL AGL OMIM
GENESYMBOL GDE OMIM
HAS_GARD_PAGE true GARD
HN 1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 3 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
MDA 19741212 MSH
MESH_DEFINITION An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent. NDFRT
MESH_DUI D006010 NDFRT
MESH_NAME Glycogen Storage Disease Type III NDFRT
MESH_UI M0009471 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C16.320.565.202.449.520 MSH
MN C18.452.648.202.449.520 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001363 NDFRT
ORDER_NO 04609 ICD10CM
PM 1991; see GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 3 see GLYCOGENOSIS 1975-1988 MSH
PRIMARY_PATH 10053250$10021604$10027424$10010331$Glycogen storage disease type III$Inborn errors of carbohydrate metabolism (excl glucose)$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/9442/glycogen-storage-disease-type-3/resources/1 GARD
RXAUI 3135762 RXNORM
RXAUI 3135763 RXNORM
RXAUI 3143196 RXNORM
RXAUI 3144896 RXNORM
RXAUI 3161325 RXNORM
RXAUI 3166348 RXNORM
RXAUI 3166370 RXNORM
RXAUI 3166371 RXNORM
RXAUI 3166405 RXNORM
RXAUI 3189588 RXNORM
RXAUI 3287393 RXNORM
RXAUI 3287397 RXNORM
RXAUI 5038637 RXNORM
RXAUI 5039407 RXNORM
RXCUI 1021878 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 12.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 12.1 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 124472001 NDFRT
SNOMED_CID 66937008 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E74.0 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~E88.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E74.03 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E74.8 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~E74.03 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E74.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU6DY SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUIee 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 T018264 MSH
TERMUI T018265 MSH
TERMUI T018266 MSH
TERMUI T018267 MSH
TERMUI T018268 MSH
TERMUI T018269 MSH
TERMUI T018270 MSH
TERMUI T018271 MSH
TERMUI T018272 MSH
TERMUI T750081 MSH
TERMUI T750959 MSH
TERMUI T811572 MSH
TERMUI T816107 MSH
TH GHR (2014) MSH
TH NLM (1975) MSH
TH NLM (2010) 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=C0017922

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