FaCD Online Syndrome Fact Sheet

Last updated: 05 Apr 2008

Name: Gaucher disease type I

Synonym: glucocerebrosidase insufficiency

Mode of Inheritance: AR

OMIM number: 230800  


GBA, mapped to 1q21

Tumor features

hepatocellular cancer (hepatoma)
multiple myeloma (Kahler's disease)
non-Hodgkin lymphoma

Tumor features (possible)

immunoblastic lymphoma
leukemia, acute lymphoblastic (ALL)
leukemia, chronic lymphocytic (CLL)
lymph glands, hyaline nodules/deposits in
melanoma, cutaneous
pancreatic adenocarcinoma

Non-tumor features

hyperpigmentation of the skin
osteolytic lesions


This disorder is caused by deficiency of beta-glucuronidase. Symptoms include hepatosplenomegaly, lymphadenopathy, osteolytic lesions and skin hyperpigmentation.

Hemato-lymphoproliferative disorders, in particular hypergammaglobulinemia and monoclonal gammopathy of undetermined significance (MGUS)and multiple myeloma have been reported in association with adult type (I) Gaucher disease[1-5]. Hepatocellular cancer is another complication[4]. Researchers have therefore suggested that measures for early detection and prevention of hematological and hepatic malignancies in patients with Gaucher type I disease are mandatory[5]. In contrast, another large study found 2- to 3-fold risks of non-Hodgkin lymphoma, malignant melanoma, and pancreatic cancer but no significant association between Gaucher disease and cancer in general or with multiple myeloma[6].


Gaucher registry 18 1 08
National Gaucher Foundation 18 1 08


[1] Perales M, Cervantes F, Cobo F, Montserrat E. Non-Hodgkin's lymphoma associated with Gaucher's disease. Leuk Lymphoma 1998; 31(5-6):609-612.
[2] Hughes D, Cappellini MD, Berger M, Van Droogenbroeck J, de Fost M, Janic D, Marinakis T, Rosenbaum H, Villarubia J, Zhukovskaya E, Hollak C. Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease. British journal of haematology 2007; 138(6):676-86.
[3] Zimran A, Liphshitz I, Barchana M, Abrahamov A, Elstein D. Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood cells, molecules & diseases 2005 May-Jun; 34(3):197-200.
[4] Shiran A, Brenner B, Laor A, Tatarsky I. Increased risk of cancer in patients with Gaucher disease. Cancer 1993; 72(1):219-24.
[5] de Fost M, Vom Dahl S, Weverling GJ, Brill N, Brett S, Häussinger D, Hollak CE. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood cells, molecules & diseases 2006 Jan-Feb; 36(1):53-8.
[6] Landgren O, Turesson I, Gridley G, Caporaso NE. Risk of malignant disease among 1525 adult male US Veterans with Gaucher disease. Archives of internal medicine 2007; 167(11):1189-94.