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Glycogen Storage Disease Type V (CUI C0017924) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0017924

NCI Thesaurus Code: C84738  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal recessive inherited type of glycogen storage disease caused by deficiency of myophosphorylase. It results in myalgias, muscle cramping and stiffness, and exercise intolerance.

GARD Definition: Glycogen storage disease type 5 is a genetic disorder that prevents the body from breaking down glycogen. Glycogen is an important source of energy that is stored in muscle tissue. Signs and symptoms may include burgundy-colored urine, fatigue, exercise intolerance, muscle cramps, muscle pain, muscle stiffness, and muscle weakness. Symptoms tend to begin in early adulthood (20s-30s). It is caused by mutations in the PYGM gene and is inherited in an autosomal recessive fashion. - this information is from GARD/ORDR/NCATS.

CSP Definition: glycogenosis due to muscle phosphorylase deficiency; characterized by painful cramps following sustained exercise.

MSH Definition: Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.

Synonyms & Abbreviations: (see Synonym Details)
DEFIC MUSCLE PHOSPHORYLASE
Deficiencies, Muscle Phosphorylase
deficiencies, Myophosphorylase
Deficiencies, PYGM
Deficiency, Muscle Phosphorylase
deficiency, Myophosphorylase
Deficiency, PYGM
Disease, McArdle's
Disease, McArdle
GLYCOGEN STORAGE DIS V
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Glycogen storage disease type 5
Glycogen Storage Disease Type V [Disease/Finding]
glycogen storage disease type V
Glycogen Storage Disease V
Glycogen storage disease, type V (disorder)
Glycogen storage disease, type V
GLYCOGENOSIS 05
Glycogenosis 5s
Glycogenosis 5
Glycogenosis due to muscle glycogen phosphorylase deficiency
Glycogenosis type 5
glycogenosis type V
Glycogenosis, type 5
GLYCOGENOSIS, TYPE V
GSD 5
GSD due to muscle glycogen phosphorylase deficiency
GSD type 5
GSD V
GSD5
MCARDLE DISEASE
MCARDLE DIS
Mcardle Syndromes
Mcardle Syndrome
McArdle type glycogen storage disease
Mcardle's Disease
McArdles disease
MCARDLES DIS
Muscle glycogen phosphorylase deficiency
Muscle Phosphorylase Deficiencies
muscle phosphorylase deficiency
MUSCLE PHOSPHORYLASE DEFIC
Myophosphorylase deficiencies
MYOPHOSPHORYLASE DEFICIENCY GLYCOGENOSIS
myophosphorylase deficiency
Phosphorylase Deficiencies, Muscle
Phosphorylase Deficiency, Muscle
PYGM Deficiencies
PYGM deficiency
Syndrome, Mcardle
Syndromes, Mcardle
Type V glycogen storage disease

External Source Codes: 
NCI Thesaurus Code C84738 (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 C3100 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 1849-4007 CSP
DISEASE_IDENTIFIER_ID 18787 GARD
DISEASE_IDENTIFIER_ID 18788 GARD
DISEASE_IDENTIFIER_ID 18789 GARD
DISEASE_IDENTIFIER_ID 18790 GARD
DISEASE_IDENTIFIER_ID 18791 GARD
DISEASE_IDENTIFIER_ID 18792 GARD
DISEASE_IDENTIFIER_ID 32952 GARD
DISEASE_IDENTIFIER_ID 32953 GARD
DISEASE_IDENTIFIER_ID 32954 GARD
DISEASE_IDENTIFIER_ID 32955 GARD
DISEASE_IDENTIFIER_ID 32956 GARD
DX 19890101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,1,q,1,3, OMIM
GENESYMBOL PYGM OMIM
HAS_GARD_PAGE true GARD
HN 1989(1975); for GLYCOGENOSIS 5 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 Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise. NDFRT
MESH_DUI D006012 NDFRT
MESH_NAME Glycogen Storage Disease Type V NDFRT
MESH_UI M0009473 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C16.320.565.202.449.560 MSH
MN C18.452.648.202.449.560 MSH
MOVED_FROM 153460 OMIM
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001365 NDFRT
ORDER_NO 04610 ICD10CM
PM 1989; for GLYCOGENOSIS 5 see GLYCOGENOSIS 1975-1988 MSH
PRIMARY_PATH 10018462$10021604$10027424$10010331$Glycogen storage disease type V$Inborn errors of carbohydrate metabolism (excl glucose)$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/6528/glycogen-storage-disease-type-5/resources/1 GARD
RXAUI 3144927 RXNORM
RXAUI 3166376 RXNORM
RXAUI 3166377 RXNORM
RXAUI 3166407 RXNORM
RXAUI 3196931 RXNORM
RXAUI 3196932 RXNORM
RXAUI 3200284 RXNORM
RXAUI 3287399 RXNORM
RXAUI 3288003 RXNORM
RXAUI 3288066 RXNORM
RXAUI 5039408 RXNORM
RXAUI 5039667 RXNORM
RXAUI 5039776 RXNORM
RXAUI 5931591 RXNORM
RXCUI 1024745 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 55912009 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 E74.04 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~E74.04 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C3100 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 T018280 MSH
TERMUI T018281 MSH
TERMUI T018282 MSH
TERMUI T018283 MSH
TERMUI T018284 MSH
TERMUI T018285 MSH
TERMUI T750080 MSH
TERMUI T750954 MSH
TERMUI T750955 MSH
TERMUI T811584 MSH
TERMUI T824107 MSH
TERMUI T824108 MSH
TERMUI T841529 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=C0017924

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