National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Gaucher disease

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Other Names:
Acute cerebral Gaucher disease; Cerebroside lipidosis syndrome; Gaucher splenomegaly; Acute cerebral Gaucher disease; Cerebroside lipidosis syndrome; Gaucher splenomegaly; Sphingolipidosis 1; Glucocerebrosidosis; Glucosylceramidase deficiency; Glucosyl cerebroside lipidosis; Kerasin lipoidosis; Kerasin thesaurismosis See More
Categories:
Subtypes:
Atypical Gaucher disease due to saposin C deficiency; Gaucher disease - ophthalmoplegia - cardiovascular calcification; Gaucher disease perinatal lethal; Atypical Gaucher disease due to saposin C deficiency; Gaucher disease - ophthalmoplegia - cardiovascular calcification; Gaucher disease perinatal lethal; Gaucher disease type 1; Gaucher disease type 2; Gaucher disease type 3 See More
This disease is grouped under:
Gaucher disease refers to a group of inherited metabolic diseases in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body (lipid storage disorder).[1][2] Signs and symptoms vary widely among affected individuals and may include skeletal disorders, enlarged spleen and liver (hepatosplenomegaly), liver malfunction, anemia,  low platelet counts, bone problems, and neurological problems.[1] 

There are different types of Gaucher disease classified according to specific features and severity:  Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2,  Gaucher disease type 3, and cardiovascular type or Type 3C (where the main problem is a hardening (calcification) of the heart valves). Gaucher disease type 1 is the most common form. Gaucher disease follows an autosomal recessive pattern of inheritance. It is caused by mutations in the GBA gene.[1][3] Treatment depends on the specific subtype, and may include enzyme replacement therapy (ERT) or substrate reduction therapy (SRT).[3]
Last updated: 10/28/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Fatigue
Tired
Tiredness
[ more ] 		0012378
Hepatomegaly
Enlarged liver
0002240
Splenomegaly
Increased spleen size
0001744
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Arthralgia
Joint pain
0002829
Ataxia 0001251
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Bone pain 0002653
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Depressivity
Depression
0000716
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ] 		0002376
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Feeding difficulties in infancy 0008872
Fever 0001945
Generalized myoclonic seizure 0002123
Joint dislocation
Joint dislocations
Recurrent joint dislocations
[ more ] 		0001373
Osteopenia 0000938
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] 		0002757
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Thrombocytopenia
Low platelet count
0001873
5%-29% of people have these symptoms
Abnormal macular morphology 0001103
Abnormal myocardium morphology 0001637
Abnormal pericardium morphology 0001697
Abnormality of extrapyramidal motor function 0002071
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] 		0001000
Aortic valve calcification 0004380
Arthrogryposis multiplex congenita 0002804
Cherry red spot of the macula 0010729
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Corneal opacity 0007957
Cranial nerve paralysis 0006824
Death in infancy
Infantile death
Lethal in infancy
[ more ] 		0001522
Elevated C-reactive protein level 0011227
Gingival bleeding
Bleeding gums
0000225
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hematuria
Blood in urine
0000790
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Hepatitis
Liver inflammation
0012115
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hydrops fetalis 0001789
Ichthyosis 0008064
Increased bone mineral density
Increased bone density
0011001
Increased circulating antibody level 0010702
Interstitial pulmonary abnormality
Abnormality in area between air sacs in lung
0006530
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Mitral valve calcification 0004382
Muscular hypotonia
Low or weak muscle tone
0001252
Oculomotor apraxia 0000657
Osteoarthritis
Degenerative joint disease
0002758
Osteolysis
Breakdown of bone
0002797
Osteomyelitis
Bone infection
0002754
Pancytopenia
Low blood cell count
0001876
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Pulmonary fibrosis 0002206
Respiratory insufficiency
Respiratory impairment
0002093
Retinopathy
Noninflammatory retina disease
0000488
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Tremor 0001337
Ventriculomegaly 0002119
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Newborn Screening

  • An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • The NORD Physician Guide for Gaucher disease was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors.  The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition. 

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • The National Gaucher Foundation has a Treatment Finder to help you search by location, name, or specialty to find a specialist or treatment center.

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other lysosomal storage disorders. The presence of Gaucher-like cells can be found in certain hematologic diseases (lymphoma, Hodgkin's lymphoma and chronic lymphocytic leukemia; see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Gaucher disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

  • The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • National Organization for Rare Disorders (NORD) has Disease-Specific Assistance Programs designed to help patients with out-of-pocket costs such as monthly insurance premiums or deductibles. In addition, some programs may provide financial assistance for additional expenses related to a patient's diagnosis such as travel to see a specialist.
  • Patient Access Network Foundation (PAN Foundation) has Assistance Programs for those with health insurance who reside in the United States. The disease fund status can change over time, so you may need to check back if funds are not currently available. 

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gaucher disease. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Gaucher disease. Genetics Home Reference. September 2014; http://ghr.nlm.nih.gov/condition/gaucher-disease.
  2. Lipid Storage Diseases Fact Sheet. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Lipid-Storage-Fact-Sheet.
  3. Pastores GM & Hughes DA. Gaucher Disease. GeneReviews. 2015; https://www.ncbi.nlm.nih.gov/books/NBK1269/.