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 type 1


Other Names:
Gaucher disease, noncerebral juvenile; GD 1; Glucocerebrosidase deficiency; Gaucher disease, noncerebral juvenile; GD 1; Glucocerebrosidase deficiency; Acid beta-glucosidase deficiency; GBA DEFICIENCY See More
Categories:
This disease is grouped under:
Gaucher disease type 1 (GD1) is the most common form of Gaucher disease. Like other types of Gaucher disease, GD1 is caused when not enough glucocerebrosidase (GBA) is made. GBA is an important enzyme that breaks down a fatty chemical called glucocerebroside.[1][2][3] Because the body cannot break down this chemical, fat-filled Gaucher cells build up in areas like the spleen, liver and bone marrow.[2] Unlike type 2 and 3, GD1 does not usually involve the brain and spinal cord (central nervous system). Symptoms of GD1 include enlarged spleen and liver, low blood cell counts, bleeding problems and bone disease. The symptoms can range from mild to severe and may appear anytime from childhood to adulthood. Gaucher disease is caused by changes (mutations) in the GBA gene and is inherited in an autosomal recessive manner.[1][2][3] Diagnosis is suspected by clinical symptoms and confirmed by measuring GBA enzyme activity or genetic testing. Treatments may include enzyme replacement therapy or medications that affect the making of fatty molecules (substrate reduction therapy).[2][3]
Last updated: 12/9/2016
Although symptoms of Gaucher disease type 1 (GD1) may vary greatly, the major symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), chronic fatigue, lung disease, and bone disease such as bone pain, fractures, and arthritis. People with GD1 may be at in increased risk for Parkinson disease, peripheral neuropathy, certain cancers, and osteoporosis.[1][2]
Last updated: 12/9/2016

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
Anorexia 0002039
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Bone pain 0002653
Cerebral palsy 0100021
Constipation 0002019
Cranial nerve paralysis 0006824
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Diaphragmatic paralysis
Paralyzed diaphragm
0006597
Hepatomegaly
Enlarged liver
0002240
Hypersplenism 0001971
Increased bone mineral density
Increased bone density
0011001
Mydriasis
Dilated pupil
0011499
Osteolysis
Breakdown of bone
0002797
Osteopenia 0000938
Splenomegaly
Increased spleen size
0001744
Thrombocytopenia
Low platelet count
0001873
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Anemia
Low number of red blood cells or hemoglobin
0001903
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Diplopia
Double vision
0000651
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Dyspnea
Trouble breathing
0002094
Gingival bleeding
Bleeding gums
0000225
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Pancytopenia
Low blood cell count
0001876
Ptosis
Drooping upper eyelid
0000508
Respiratory insufficiency due to muscle weakness
Decreased lung function due to weak breathing muscles
0002747
5%-29% of people have these symptoms
Abnormal myocardium morphology 0001637
Ascites
Accumulation of fluid in the abdomen
0001541
Biliary tract obstruction 0005230
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Hematuria
Blood in urine
0000790
Increased circulating antibody level 0010702
Interstitial pulmonary abnormality
Abnormality in area between air sacs in lung
0006530
Leukopenia
Decreased blood leukocyte number
Low white blood cell count
[ more ] 		0001882
Osteoarthritis
Degenerative joint disease
0002758
Pathologic fracture
Spontaneous fracture
0002756
Pedal edema
Fluid accumulation in lower limbs
Lower leg swelling
[ more ] 		0010741
Pericardial effusion
Fluid around heart
0001698
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Pulmonary infiltrates
Lung infiltrates
0002113
Vertebral compression fractures
Compression fracture
0002953
Percent of people who have these symptoms is not available through HPO
Abnormality of the eye
Abnormal eye
0000478
Autosomal recessive inheritance 0000007
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] 		0000421
Erlenmeyer flask deformity of the femurs
Erlenmeyer flask shaped thighbone
0004975
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Hypertension 0000822
Macular atrophy 0007401
Multiple myeloma 0006775
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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.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

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.

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 type 1 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

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 type 1. 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.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
  • 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

  • The American Society of Gene & Cell Therapy provides information on the treatment of genetic diseases.
  • Genetics Home Reference (GHR) contains information on Gaucher disease type 1. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

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.
  • 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 type 1. 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. Submit a new question

  • My sister passed away several years ago from complications of Gaucher disease.  She was petite in build and darker skinned than any of her siblings who had much lighter complexions and stockier builds.  Would these differences have been due to Gaucher disease? See answer


  1. Utz J, Whitley CB, van Giersbergen PL, and Kolb SA. Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions. Mol Genet Metab. February 2016; 117(2):172-8. https://www.ncbi.nlm.nih.gov/pubmed/26674302.
  2. Gaucher Disease Type 1. National Gaucher Foundation. http://www.gaucherdisease.org/about-gaucher-disease/what-is/type-1/. Accessed 12/9/2016.
  3. Brady RO. NORD Physician Guide to Gaucher Diseas. National Organization for Rare Disorder. 2013; http://nordphysicianguides.org/gaucher-disease/.