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Glycogen Storage Disease Type IV (CUI C0017923) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0017923

NCI Thesaurus Code: C84737  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare inherited type of glycogen storage disease caused by deficiency of amylo-1,4-1,6 transglucosidase.

GARD Definition: Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. In rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. GSD 4 is caused by mutations in the GBE1 gene and is inherited in an autosomal recessive manner. Treatment typically focuses on the specific symptoms that are present in each individual. - this information is from GARD/ORDR/NCATS.

CSP Definition: autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches; clinical features are muscle hypotonia and cirrhosis; death from liver disease usually occurs before age 2.

MSH Definition: An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.

Synonyms & Abbreviations: (see Synonym Details)
1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency
Amylopectinoses
amylopectinosis
ANDERSEN DISEASE
ANDERSEN DIS
Andersen's disease
Andersens Disease
ANDERSENS DIS
Brancher Deficiencies
BRANCHER DEFICIENCY AMYLOPECTINOSIS
Brancher deficiency glycogen storage disease
brancher deficiency glycogenosis
brancher deficiency
BRANCHER DEFIC
BRANCHER ENZYME DEFICIENCY
brancher glycogen storage disease
Branching enzyme deficiency
Branching-transferase deficiency glycogenosis
DEFIC BRANCHER
Deficiencies, Brancher
Deficiencies, Gbe1
Deficiency of 1,4-alpha-glucan branching enzyme (disorder)
Deficiency of 1,4-alpha-glucan branching enzyme
Deficiency of amylo-(1,4,6)-transglycosylase
Deficiency of branching enzyme
Deficiency, Brancher
Deficiency, Gbe1
Disease, Andersen's
Disease, Andersen
Gbe1 Deficiencies
Gbe1 Deficiency
Glycogen branching enzyme deficiency
GLYCOGEN STORAGE DIS IV
Glycogen storage disease due to glycogen branching enzyme deficiency
GLYCOGEN STORAGE DISEASE IV
Glycogen storage disease type 4
Glycogen Storage Disease Type IV [Disease/Finding]
glycogen storage disease type IV
Glycogen storage disease, type 4
Glycogen storage disease, type IV (disorder)
Glycogen storage disease, type IV
Glycogenoses, Type IV
GLYCOGENOSIS 04
Glycogenosis 4s
Glycogenosis 4
Glycogenosis due to glycogen branching enzyme deficiency
Glycogenosis IVs
Glycogenosis IV
Glycogenosis type 4
glycogenosis type IV
Glycogenosis, type 4
GLYCOGENOSIS, TYPE IV
GSD 4
GSD due to glycogen branching enzyme deficiency
GSD IV
GSD type 4
GSD4
Type IV Glycogenoses
Type IV Glycogenosis

External Source Codes: 
NCI Thesaurus Code C84737 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis 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 XU2wa SNOMEDCT_US
CTV3ID XU6AB 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 1849-3950 CSP
DISEASE_IDENTIFIER_ID 10072 GARD
DISEASE_IDENTIFIER_ID 10073 GARD
DISEASE_IDENTIFIER_ID 10074 GARD
DISEASE_IDENTIFIER_ID 10075 GARD
DISEASE_IDENTIFIER_ID 10076 GARD
DISEASE_IDENTIFIER_ID 10078 GARD
DISEASE_IDENTIFIER_ID 10079 GARD
DISEASE_IDENTIFIER_ID 10080 GARD
DISEASE_IDENTIFIER_ID 32947 GARD
DISEASE_IDENTIFIER_ID 32948 GARD
DISEASE_IDENTIFIER_ID 32949 GARD
DISEASE_IDENTIFIER_ID 32950 GARD
DISEASE_IDENTIFIER_ID 32951 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,3,p,1,2, OMIM
GENESYMBOL APBD OMIM
GENESYMBOL GBE1 OMIM
GENESYMBOL GSD4 OMIM
HAS_GARD_PAGE true GARD
HN 1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 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_DATE 2006-10-06T00:00:00 GARD
MDA 19741212 MSH
MESH_DEFINITION An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2. NDFRT
MESH_DUI D006011 NDFRT
MESH_NAME Glycogen Storage Disease Type IV NDFRT
MESH_UI M0009472 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20120703 MSH
MN C16.320.565.202.449.540 MSH
MN C18.452.648.202.449.540 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001364 NDFRT
PM 1991; see GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 see GLYCOGENOSIS 1975-1988 MSH
PRIMARY_PATH 10053249$10021604$10027424$10010331$Glycogen storage disease type IV$Inborn errors of carbohydrate metabolism (excl glucose)$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/2520/glycogen-storage-disease-type-4/resources/1 GARD
RXAUI 3108735 RXNORM
RXAUI 3108835 RXNORM
RXAUI 3108838 RXNORM
RXAUI 3118855 RXNORM
RXAUI 3144889 RXNORM
RXAUI 3166374 RXNORM
RXAUI 3166375 RXNORM
RXAUI 3166406 RXNORM
RXAUI 3251857 RXNORM
RXAUI 3287392 RXNORM
RXAUI 3287398 RXNORM
RXAUI 5039398 RXNORM
RXAUI 5039411 RXNORM
RXCUI 1022856 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 11179002 NDFRT
SNOMED_CID 124267007 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~MAPADVICE~ALWAYS E88.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 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 6011000124106~MAPTARGET~E88.89 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU2wa SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU6AB 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 T018273 MSH
TERMUI T018274 MSH
TERMUI T018275 MSH
TERMUI T018276 MSH
TERMUI T018277 MSH
TERMUI T018278 MSH
TERMUI T018279 MSH
TERMUI T608267 MSH
TERMUI T750084 MSH
TERMUI T750964 MSH
TERMUI T811579 MSH
TERMUI T816836 MSH
TH NLM (1975) MSH
TH NLM (2006) 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)

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