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Glycogen Storage Disease Type VII (CUI C0017926) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0017926

NCI Thesaurus Code: C118437  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare, autosomal recessive inherited metabolic disorder caused by mutation in the PFKM gene. It results in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise. Affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness.

GARD Definition: Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated signs and symptoms vary, but may include muscle weakness and stiffness; painful muscle cramps; nausea and vomiting; and/or myoglobinuria (the presence of myoglobin in the urine) following moderate to strenuous exercise. Symptoms typically resolve with rest. GSD7 is most commonly diagnosed during childhood; however, some affected people may rarely develop symptoms during infancy or later in adulthood. Those who develop the condition during infancy may experience additional symptoms such as hypotonia (poor muscle tone), cardiomyopathy and breathing difficulties that often lead to a shortened lifespan (less than 1 year). This condition is caused by changes (mutations) in the PFKM gene and is inherited in an autosomal recessive manner. There is no specific treatment for GSD7; however, affected people are generally advised to avoid vigorous exercise and high-carbohydrate meals. - this information is from GARD/ORDR/NCATS.

NICHD Definition: A rare, autosomal recessive, inherited, metabolic disorder that is caused by mutation of the PFKM gene, resulting in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise; affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness.

CSP Definition: autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle resulting in abnormal deposition of glycogen in muscle tissue; patients have severe congenital muscular dystrophy and are exercise intolerant.

MSH Definition: An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.

Synonyms & Abbreviations: (see Synonym Details)
DEFIC MUSCLE PHOSPHOFRUCTOKINASE
Deficiencies, Muscle Phosphofructokinase
Deficiencies, Pfkm
Deficiency, Muscle Phosphofructokinase
Deficiency, Pfkm
Disease, Tarui's
Disease, Tarui
GLYCOGEN STORAGE DIS VII
Glycogen storage disease due to muscle phosphofructokinase deficiency
Glycogen storage disease type 7
Glycogen Storage Disease Type VII [Disease/Finding]
glycogen storage disease type VII
Glycogen Storage Disease VII
Glycogen storage disease, type 7
Glycogen storage disease, type VII (disorder)
Glycogen storage disease, type VII
GLYCOGENOSIS 07
Glycogenosis 7
Glycogenosis due to muscle phosphofructokinase deficiency
Glycogenosis type 7
glycogenosis type VII
GSD due to muscle phosphofructokinase deficiency
GSD type 7
GSD VII
GSD7
GSDVII
Muscle Phosphofructokinase Deficiencies
muscle phosphofructokinase deficiency
MUSCLE PHOSPHOFRUCTOKINASE DEFIC
Pfkm Deficiencies
PFKM deficiency
Phosphofructokinase Deficiencies, Muscle
Phosphofructokinase Deficiency, Muscle
PHOSPHOFRUCTOKINASE DEFICIENCY
phosphofructokinase myopathy
Tarui disease
TARUI DIS
Tarui's Disease
Taruis Disease
TARUIS DIS
Tauri disease

External Source Codes: 
NCI Thesaurus Code C118437 (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
Contributing_Source NICHD NCI
CTV3ID XUNCl 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 1849-4121 CSP
DISEASE_IDENTIFIER_ID 16828 GARD
DISEASE_IDENTIFIER_ID 16829 GARD
DISEASE_IDENTIFIER_ID 16830 GARD
DISEASE_IDENTIFIER_ID 16831 GARD
DISEASE_IDENTIFIER_ID 32966 GARD
DISEASE_IDENTIFIER_ID 32967 GARD
DISEASE_IDENTIFIER_ID 32968 GARD
DISEASE_IDENTIFIER_ID 32969 GARD
DISEASE_IDENTIFIER_ID 32970 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,2,q,1,3,.,3, OMIM
GENESYMBOL GSD7 OMIM
GENESYMBOL PFKM OMIM
HAS_GARD_PAGE true GARD
HN 91(89); was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 7 see under GLYCOGENOSIS 1975-88 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 glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant. NDFRT
MESH_DUI D006014 NDFRT
MESH_NAME Glycogen Storage Disease Type VII NDFRT
MESH_UI M0009475 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150622 MSH
MN C05.651.534.500.149 MSH
MN C10.668.491.175.500.112 MSH
MN C16.320.565.202.449.600 MSH
MN C16.320.577.149 MSH
MN C18.452.648.202.449.600 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Glycogen Storage Disease Type VII NCI
NUI N0000001367 NDFRT
OL use GLYCOGEN STORAGE DISEASE TYPE VII to search GLYCOGENOSIS 7 1975-88 MSH
PM 91; was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 7 see under GLYCOGENOSIS 1975-88 MSH
PRIMARY_PATH 10053241$10021604$10027424$10010331$Glycogen storage disease type VII$Inborn errors of carbohydrate metabolism (excl glucose)$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 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/5686/glycogen-storage-disease-type-7/resources/1 GARD
RXAUI 3144926 RXNORM
RXAUI 3166380 RXNORM
RXAUI 3166381 RXNORM
RXAUI 3166410 RXNORM
RXAUI 3200282 RXNORM
RXAUI 3247286 RXNORM
RXAUI 3247287 RXNORM
RXAUI 5039390 RXNORM
RXAUI 5039409 RXNORM
RXAUI 5039805 RXNORM
RXCUI 1022577 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 234406005 NDFRT
SNOMED_CID 89597008 NDFRT
SNOMEDID D6-50430 SNOMEDCT_US
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~XUNCl SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-50430 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 T018289 MSH
TERMUI T018290 MSH
TERMUI T018291 MSH
TERMUI T018292 MSH
TERMUI T018293 MSH
TERMUI T018294 MSH
TERMUI T811586 MSH
TERMUI T824489 MSH
TERMUI T824490 MSH
TH NLM (1975) MSH
TH OMIM (2013) 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=C0017926

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