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Gaucher Disease (CUI C0017205) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0017205

NCI Thesaurus Code: C61268  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia.

LNC Definition: Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. Common signs and symptoms include hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and bone abnormalities. The severe types of the disease also involve the central nervous system, causing neurological problems such as abnormal eye movements, seizures, and brain damage. Gaucher disease results from mutations in the GBA gene; it has an autosomal recessive pattern of inheritance.

MEDLINEPLUS Definition: 

Gaucher disease is a rare, inherited disorder in which you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly.

There are three types:

  • Type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age.
  • Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.
  • In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence.

Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.

NIH: National Institute of Neurological Disorders and Stroke

CSP Definition: autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase featuring the pathological storage of glycosylceramide in mononuclear phagocytes; the most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly; the juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons.

MSH Definition: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.

Synonyms & Abbreviations: (see Synonym Details)
ACID BETA GLUCOSIDASE DEFIC DIS
Acid beta-Glucosidase Deficiency Disease
Acid beta-glucosidase deficiency
Adult Gaucher disease
ANEMIA, SPLENIC, FAMILIAL
Cerebroside Lipidoses, Glucosyl
Cerebroside Lipidosis Syndromes
Cerebroside Lipidosis Syndrome
Cerebroside Lipidosis, Glucosyl
CEREBROSIDE LIPOIDOSIS <GAUCHERS ADULT FORM>
Chronic adult Gaucher's disease
Chronic non-neuropathic Gaucher disease
Chronic non-neuropathic Gaucher's disease (disorder)
Chronic non-neuropathic Gaucher's disease
Deficiencies, Glucocerebrosidase
Deficiency Disease, Glucocerebrosidase
Deficiency Diseases, Glucocerebrosidase
Deficiency, Glucocerebrosidase
Disease, Gaucher's
Disease, Gauchers
Disease, Gaucher
Disease, Glucocerebrosidase Deficiency
Diseases, Gauchers
Diseases, Glucocerebrosidase Deficiency
familial splenic anemia
Gaucher Disease [Disease/Finding]
GAUCHER DISEASE
GAUCHER DIS
Gaucher Splenomegaly
Gaucher Syndrome
Gaucher's disease
Gauchers Diseases
Gauchers Disease
GAUCHERS DIS
GBA
GLUCOCEREBROSIDASE DEFIC DIS
Glucocerebrosidase Deficiencies
Glucocerebrosidase Deficiency Diseases
Glucocerebrosidase Deficiency Disease
Glucocerebrosidase deficiency
Glucocerebrosidoses
glucocerebrosidosis
Glucosyl Cerebroside Lipidoses
GLUCOSYL CEREBROSIDE LIPIDOSIS
Glucosylceramidase deficiency, chronic type
glucosylceramidase deficiency
GLUCOSYLCERAMIDE BETA GLUCOSIDASE DEFIC DIS
Glucosylceramide beta-glucosidase deficiency (disorder)
Glucosylceramide Beta-Glucosidase Deficiency Disease
Glucosylceramide Beta-Glucosidase Deficiency
Glucosylceramide Lipidoses
glucosylceramide lipidosis
Histiocytoses, Kerasin
Histiocytoses, Lipoid (Kerasin Type)
Histiocytosis, Kerasin
HISTIOCYTOSIS, LIPID, KERASIN TYPE
Histiocytosis, Lipoid (Kerasin Type)
Kerasin Histiocytoses
Kerasin Histiocytosis
Kerasin Lipoidoses
Kerasin Lipoidosis
Kerasin thesaurismoses
Kerasin thesaurismosis (disorder)
Kerasin thesaurismosis
Lipidoses, Glucosyl Cerebroside
Lipidoses, Glucosylceramide
Lipidosis Syndrome, Cerebroside
Lipidosis Syndromes, Cerebroside
LIPIDOSIS, CEREBROSIDE
Lipidosis, Glucosyl Cerebroside
Lipidosis, Glucosylceramide
Lipoid Histiocytoses (Kerasin Type)
lipoid histiocytosis (kerasin type)
Lipoidoses, Kerasin
Lipoidosis, Kerasin
Splenomegaly, Gaucher
Syndrome, Cerebroside Lipidosis
Syndrome, Gaucher
Syndromes, Cerebroside Lipidosis
thesaurismoses, Kerasin
thesaurismosis, Kerasin

External Source Codes: 
NCI Thesaurus Code C61268 (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 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID C3271 SNOMEDCT_US
CTV3ID X40VF SNOMEDCT_US
CTV3ID XU1D9 SNOMEDCT_US
DATE_CREATED 08/16/2001 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-8920 CSP
DISEASE_IDENTIFIER_ID 9806 GARD
DISEASE_IDENTIFIER_ID 9807 GARD
DX 20000101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXTERNALLY_DEFINED N LNC
FX D005962 MSH
GLOBAL_ID 190794006 LNC
GLOBAL_ID_CODE_SYSTEM SCT LNC
HN 2000(1966) MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
MDA 19990101 MSH
MESH_DEFINITION An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. NDFRT
MESH_DUI D005776 NDFRT
MESH_NAME Gaucher Disease NDFRT
MESH_UI M0009048 NDFRT
MMR 20130708 MSH
MN C10.228.140.163.100.435.825.400 MSH
MN C16.320.565.189.435.825.400 MSH
MN C16.320.565.398.641.803.441 MSH
MN C16.320.565.595.554.825.400 MSH
MN C18.452.132.100.435.825.400 MSH
MN C18.452.584.687.803.441 MSH
MN C18.452.648.189.435.825.400 MSH
MN C18.452.648.398.641.803.441 MSH
MN C18.452.648.595.554.825.400 MSH
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/gaucherdisease.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/gaucherdisease.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Gaucher Disease NCI
NUI N0000001322 NDFRT
ORDER_NO 04639 ICD10CM
PM 2000; see GAUCHER'S DISEASE 1966-1999; for GAUCHER DISEASE see GAUCHER'S DISEASE 1966-1999 MSH
PRIMARY_PATH 10018048$10024579$10027424$10010331$Gaucher's disease$Lysosomal storage disorders$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 3131836 RXNORM
RXAUI 3164966 RXNORM
RXAUI 3164967 RXNORM
RXAUI 3164980 RXNORM
RXAUI 3165802 RXNORM
RXAUI 3165955 RXNORM
RXAUI 3286616 RXNORM
RXAUI 3605469 RXNORM
RXAUI 4222936 RXNORM
RXAUI 5931027 RXNORM
RXAUI 5931028 RXNORM
RXAUI 5931029 RXNORM
RXAUI 5931039 RXNORM
RXAUI 5931040 RXNORM
RXAUI 5931041 RXNORM
RXAUI 5931042 RXNORM
RXAUI 5931043 RXNORM
RXAUI 5931298 RXNORM
RXAUI 5931299 RXNORM
RXAUI 5931300 RXNORM
RXAUI 5931362 RXNORM
RXCUI 1022457 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 180485001 NDFRT
SNOMED_CID 190794006 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E75.2 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~E75.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E75.22 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~E75.22 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C3271 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X40VF SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU1D9 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 T017404 MSH
TERMUI T017405 MSH
TERMUI T368308 MSH
TERMUI T368309 MSH
TERMUI T368310 MSH
TERMUI T647675 MSH
TERMUI T770091 MSH
TERMUI T782941 MSH
TERMUI T841477 MSH
TERMUI T841478 MSH
TERMUI T841479 MSH
TERMUI T841480 MSH
TERMUI T841481 MSH
TERMUI T841482 MSH
TERMUI T841483 MSH
TERMUI T841484 MSH
TERMUI T841485 MSH
TERMUI T841486 MSH
TERMUI T841487 MSH
TERMUI T841488 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH NLM (2000) MSH
TH NLM (2007) MSH
TH NLM (2011) MSH
TH NLM (2012) MSH
TH NLM (2014) 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=C0017205

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