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Glycogen Storage Disease Type I (CUI C0017920) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0017920

NCI Thesaurus Code: C84733  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal recessive inherited type of glycogen storage disease. It is characterized by a deficiency of the enzyme glucose-6-phosphatase, resulting in the inability of the liver to produce free glucose causing severe hypoglycemia. There is abnormal accumulation of glycogen in the liver and kidneys.

CSP Definition: autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production; accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly; increased concentrations of lactic acid and hyperlipidemia appear in the plasma; clinical gout often appears in early childhood.

MSH Definition: An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.

Synonyms & Abbreviations: (see Synonym Details)
DEFIC GLUCOSEPHOSPHATASE
Deficiencies, Glucose-6-Phosphatase
Deficiencies, Glucosephosphatase
Deficiency of glucose-6-phosphatase (disorder)
Deficiency of glucose-6-phosphatase
Deficiency, Glucose-6-Phosphatase
Deficiency, Glucosephosphatase
Disease, Gierke's
Disease, Gierke
Disease, von Gierke's
Disease, von Gierke
G-6 PD deficiency
G6P deficiency
Gierke Disease
GIERKE DIS
Gierke's Disease
Gierkes Disease
GIERKES DIS
Glucose 6 Phosphatase Deficiency
GLUCOSE 6 PHOSPHATASE DEFIC
GLUCOSE PHOSPHATASE DEFICIENCY 06
Glucose-6-Phosphatase Deficiencies
Glucose-6-phosphatase deficiency glycogen storage disease
Glucose-6-phosphatase deficiency
Glucosephosphatase Deficiencies
Glucosephosphatase Deficiency
GLUCOSEPHOSPHATASE DEFIC
GLYCOGEN STORAGE DIS I
Glycogen Storage Disease 1 (GSD I)
Glycogen storage disease due to G6P deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency
GLYCOGEN STORAGE DISEASE Ia
GLYCOGEN STORAGE DISEASE I
Glycogen storage disease type 1
Glycogen Storage Disease Type I [Disease/Finding]
Glycogen storage disease type IA
glycogen storage disease type I
Glycogen storage disease, type 1
Glycogen storage disease, type I (disorder)
Glycogen storage disease, type I
GLYCOGENOSIS 01
Glycogenosis 1
Glycogenosis type 1
glycogenosis type I
GLYCOGENOSIS, HEPATORENAL
GLYCOGENOSIS, TYPE I
GSD due to G6P deficiency
GSD Ia
GSD I
GSD type 1
GSD1A
GSD1
Hepatorenal form of glycogen storage disease
hepatorenal glycogen storage disease
HEPATORENAL GLYCOGEN STORAGE DIS
hepatorenal glycogenosis
Liver glycogen disease
Type I glycogen storage disease
VON GIERKE DISEASE
von Gierke's disease
von Gierkes Disease

External Source Codes: 
NCI Thesaurus Code C84733 (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 C3102 SNOMEDCT_US
CTV3ID XU6Cy 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 1849-3779 CSP
DISEASE_IDENTIFIER_ID 32926 GARD
DISEASE_IDENTIFIER_ID 32927 GARD
DISEASE_IDENTIFIER_ID 32928 GARD
DISEASE_IDENTIFIER_ID 32929 GARD
DISEASE_IDENTIFIER_ID 32930 GARD
DISEASE_IDENTIFIER_ID 32931 GARD
DISEASE_IDENTIFIER_ID 6247 GARD
DISEASE_IDENTIFIER_ID 6249 GARD
DISEASE_IDENTIFIER_ID 6250 GARD
DISEASE_IDENTIFIER_ID 6251 GARD
DISEASE_IDENTIFIER_ID 6252 GARD
DISEASE_IDENTIFIER_ID 6253 GARD
DISEASE_IDENTIFIER_ID 6254 GARD
DX 19650101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,7,q,2,1, OMIM
GENESYMBOL G6PC OMIM
GENESYMBOL G6PT OMIM
HN 1989; use GLUCOSEPHOSPHATASE DEFICIENCY 1964-1988; for VON GIERKE'S DISEASE use GLYCOGENOSIS 1963-1964 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
MDA 19990101 MSH
MESH_DEFINITION An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood. NDFRT
MESH_DUI D005953 NDFRT
MESH_NAME Glycogen Storage Disease Type I NDFRT
MESH_UI M0009351 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C16.320.565.202.449.448 MSH
MN C18.452.648.202.449.448 MSH
MOVED_FROM 232210 OMIM
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001359 NDFRT
ORDER_NO 04607 ICD10CM
PM 1989; see GLUCOSEPHOSPHATASE DEFICIENCY 1964-1988; for VON GIERKE'S DISEASE see GLYCOGENOSIS 1963-64 MSH
PRIMARY_PATH 10018464$10021604$10027424$10010331$Glycogen storage disease type I$Inborn errors of carbohydrate metabolism (excl glucose)$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
RXAUI 3144914 RXNORM
RXAUI 3165410 RXNORM
RXAUI 3165411 RXNORM
RXAUI 3165916 RXNORM
RXAUI 3165928 RXNORM
RXAUI 3166363 RXNORM
RXAUI 3166364 RXNORM
RXAUI 3166403 RXNORM
RXAUI 3172368 RXNORM
RXAUI 3288974 RXNORM
RXAUI 3288975 RXNORM
RXAUI 5039405 RXNORM
RXCUI 986125 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 12.0 MDR
SMQ_TERM_ADDVERSION 17.1 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_LMVERSION 17.1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 124437004 NDFRT
SNOMED_CID 7265005 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E74.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E74.4 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~E74.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E74.01 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~E74.01 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C3102 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU6Cy 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 T018026 MSH
TERMUI T018027 MSH
TERMUI T018028 MSH
TERMUI T018029 MSH
TERMUI T018030 MSH
TERMUI T018031 MSH
TERMUI T018032 MSH
TERMUI T018033 MSH
TERMUI T704462 MSH
TERMUI T704463 MSH
TERMUI T823363 MSH
TH GHR (2014) MSH
TH NLM (1964) MSH
TH NLM (2009) MSH
TH NLM (2010) 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=C0017920

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