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Deficiency of glucose-6-phosphate dehydrogenase (CUI C2939465) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C2939465

NCI Thesaurus Code: C98933  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.

GARD Definition: Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. This condition occurs when a person is missing or doesn't have enough glucose-6-phosphate dehydrogenase, an enzyme which helps red blood cells work properly. G6PD deficiency is more likely to occur in males, particularly African Americans, and those from certain parts of Africa, Asia, and the Mediterranean. This condition is inherited in an X-linked recessive manner and is caused by mutations in the G6PD gene. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them.

If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include

  • Paleness
  • Jaundice
  • Dark urine
  • Fatigue
  • Shortness of breath
  • Enlarged spleen
  • Rapid heart rate

A blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions.

NIH: National Library of Medicine

NICHD Definition: An X-linked recessive disorder caused by mutations in the G6PD gene. It is characterized by subnormal activity of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia, usually in response to infection or exposure to food, drugs, or other substances.

CSP Definition: common hereditary enzyme deficiency causing varying degrees of hemolytic anemia; can cause favism, some drug induced hemolytic anemias, and chronic nonspherocytic hemolytic anemia.

MSH Definition: A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.

Synonyms & Abbreviations: (see Synonym Details)
DEFIC GLUCOSEPHOSPHATE DEHYDROGENASE
DEFIC GPD
Deficiencies, G6PD
Deficiencies, Glucose-6-Phosphate Dehydrogenase
Deficiencies, Glucosephosphate Dehydrogenase
Deficiencies, GPD
Deficiency of G-6PD
Deficiency of Glucose 6 Phosphate Dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase (disorder)
Deficiency of Glucose-6-Phosphate Dehydrogenase
Deficiency, G6PD
Deficiency, Glucose-6-Phosphate Dehydrogenase
Deficiency, Glucosephosphate Dehydrogenase
Deficiency, GPD
Dehydrogenase Deficiencies, Glucose-6-Phosphate
Dehydrogenase Deficiencies, Glucosephosphate
Dehydrogenase Deficiency, Glucose-6-Phosphate
Dehydrogenase Deficiency, Glucosephosphate
G-6-PD Variant Enzyme Deficiency Anemia
G6PD - Glucose-6-phosphate dehydrogenase deficiency
G6PD Deficiencies
G6PD DEFICIENCY
G6PD
glucose 6 phosphate dehydrogenase deficiency
Glucose-6-Phosphate Dehydrogenase Deficiencies
glucose-6-phosphate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase deficienc
Glucosephosphate Dehydrogenase Deficiencies
Glucosephosphate Dehydrogenase Deficiency [Disease/Finding]
Glucosephosphate Dehydrogenase Deficiency
GLUCOSEPHOSPHATE DEHYDROGENASE DEFIC
GPD Deficiencies
GPD Deficiency
GPD DEFIC
Hemolytic anemia due to G6PD deficiency

External Source Codes: 
NCI Thesaurus Code C98933 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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 900000000000020002 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
Contributing_Source NICHD NCI
CTV3ID X20DE SNOMEDCT_US
DATE_CREATED 08/06/2013 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-3722 CSP
DISEASE_IDENTIFIER_ID 18757 GARD
DISEASE_IDENTIFIER_ID 18758 GARD
DX 19640101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXTERNALLY_DEFINED N LNC
GLOBAL_ID 62403005 LNC
GLOBAL_ID_CODE_SYSTEM SCT LNC
HAS_GARD_PAGE true GARD
HN 64 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. NDFRT
MESH_DUI D005955 NDFRT
MESH_NAME Glucosephosphate Dehydrogenase Deficiency NDFRT
MESH_UI M0009353 NDFRT
MMR 20130708 MSH
MN C15.378.071.141.150.480 MSH
MN C16.320.070.480 MSH
MN C16.320.565.202.402 MSH
MN C18.452.648.202.402 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/g6pddeficiency.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/g6pddeficiency.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL NIH Office of Rare Diseases http://rarediseases.info.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Glucose-6-Phosphate Dehydrogenase Deficiency NCI
NUI N0000001360 NDFRT
PM 64 MSH
PRIMARY_PATH 10018444$10021604$10027424$10010331$Glucose-6-phosphate dehydrogenase deficiency$Inborn errors of carbohydrate metabolism (excl glucose)$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/6520/glucose-6-phosphate-dehydrogenase-deficiency/resources/1 GARD
RXAUI 3144912 RXNORM
RXAUI 3144915 RXNORM
RXAUI 3163782 RXNORM
RXAUI 3165930 RXNORM
RXAUI 3165931 RXNORM
RXAUI 3165932 RXNORM
RXAUI 3605833 RXNORM
RXAUI 3605850 RXNORM
RXAUI 3605851 RXNORM
RXAUI 4223093 RXNORM
RXAUI 5930698 RXNORM
RXCUI 1446889 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 17.1 MDR
SMQ_TERM_ADDVERSION 18.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_LMVERSION 17.1 MDR
SMQ_TERM_LMVERSION 18.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 124134002 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D55.0 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~D55.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D55.0 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~D55.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X20DE 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 T018038 MSH
TERMUI T018039 MSH
TERMUI T018040 MSH
TERMUI T018041 MSH
TERMUI T018042 MSH
TERMUI T768911 MSH
TERMUI T768912 MSH
TERMUI T768914 MSH
TERMUI T782951 MSH
TERMUI T841497 MSH
TH GHR (2014) MSH
TH NLM (1964) MSH
TH NLM (2011) MSH
TH NLM (2012) 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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