Gaucher disease

Información en español Title

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:

Heart Diseases; Metabolic disorders

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:

Sphingolipidosis

Summary Summary

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

Symptoms Symptoms

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
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 seizures		0002123
Generalized tonic-clonic seizures	Grand mal seizures	0002069
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 antibody level in blood		0010702
Increased bone mineral density	Increased bone density	0011001
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	Tremors	0001337
Ventriculomegaly		0002119

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

Last updated: 1/1/2020

Do you have updated information on this disease? We want to hear from you.

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.

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.

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 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.

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
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

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. 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.

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

Center for Jewish Genetics
30 South Wells St.
Chicago, IL 60606
Telephone: 312-357-4717
Fax: 312-855-3295
E-mail: jewishgeneticsctr@juf.org
Website: https://www.jewishgenetics.org/
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/
National Gaucher Foundation of Canada
Website: http://www.gauchercanada.ca/

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 lysosomal storage diseases.
Genetics Home Reference (GHR) contains information on Gaucher disease. 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.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.

News & Events News & Events

News

Parkinson’s Progression Markers Initiative (PPMI)
February 23, 2017

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