Gaucher disease type 1

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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:

Congenital and Genetic Diseases; Eye diseases; Heart Diseases; Congenital and Genetic Diseases; Eye diseases; Heart Diseases; Lung Diseases; Metabolic disorders; Musculoskeletal Diseases; Nervous System Diseases See More

This disease is grouped under:

Gaucher disease

Summary Summary

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

Symptoms Symptoms

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
Abnormal pulmonary Interstitial morphology	Abnormality in area between air sacs in lung	0006530
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
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

Showing of 52 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2021

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Diagnosis Diagnosis

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.

Treatment Treatment

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.

Eliglustat (Brand name: Cerdelga) - Manufactured by Genzyme Corporation
FDA-approved indication: Long-term treatment of adult patients with Gaucher disease type 1 who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test.
National Library of Medicine Drug Information Portal
Imiglucerase (Brand name: Cerezyme®) - Manufactured by Genzyme Corporation
FDA-approved indication: Enzyme replacement therapy in patients with type I Gaucher's disease.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Taliglucerase alfa (Brand name: Elelyso For Injection) - Manufactured by Pfizer, Inc.
FDA-approved indication: Use as long-term enzyme replacement therapy in patients with Type 1 Gaucher disease
National Library of Medicine Drug Information Portal
Velaglucerase-alfa (Brand name: VPRIV) - Manufactured by Shire Human Genetics Therapies, Inc.
FDA-approved indication: Treatment of Type I Gaucher disease.
National Library of Medicine Drug Information Portal
Miglustat (Brand name: Zavesca) - Manufactured by Actelion Pharmaceuticals Ltd
FDA-approved indication: Treatment of mild to moderate Type I Gaucher disease in adults for whom enzyme replacement therapy is not a therapeutic option (e.g., due to constraints such as allergy, hypersensitivity, or poor venous access).
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
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 Related Diseases

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 Research

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.

Organizations Organizations

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

Children's Gaucher Research Fund
P.O. Box 2123
Granite Bay, CA 95746-2123
Telephone: 916-797-3700
Fax: 916-797-3707
E-mail: research@childrensgaucher.org
Website: http://www.childrensgaucher.org
Jewish Genetic Disease Consortium (JGDC)
450 West End Ave., 6A
New York, NY 10024
Toll-free: 866-370-GENE (4363)
Telephone: 855-642-6900
Fax: 212-873-7892
E-mail: info@jewishgeneticdiseases.org
Website: http://www.JewishGeneticDiseases.org
National Gaucher Foundation (NGF)
2227 Idlewood Road, Suite 12
Tucker, GA 30084
Toll-free: 800-504-3189
Fax: 770-934-2911
E-mail: ngf@gaucherdisease.org
Website: http://www.gaucherdisease.org/

Do you know of an organization? We want to hear from you.

Living With Living With

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.

Learn More Learn More

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.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
Genetics Home Reference (GHR) contains information on Gaucher disease type 1. This website is maintained by the National Library of Medicine.

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.

News & Events News & Events

News

Gaucher Disease, How a Rare Disease Provides a Window into Common Neurodegenerative Disorders
December 1, 2020

GARD Answers GARD Answers

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

Have a question? Contact a GARD Information Specialist.

References References

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.
Gaucher Disease Type 1. National Gaucher Foundation. http://www.gaucherdisease.org/about-gaucher-disease/what-is/type-1/. Accessed 12/9/2016.
Brady RO. NORD Physician Guide to Gaucher Diseas. National Organization for Rare Disorder. 2013; http://nordphysicianguides.org/gaucher-disease/.

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