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Disease Profile
Gaucher disease type 1
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
All ages
ICD-10
E75.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Gaucher disease, noncerebral juvenile; GD 1; Glucocerebrosidase deficiency;
Categories
Congenital and Genetic Diseases; Eye diseases; Heart Diseases;
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
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.
| 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 |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
| Diplopia |
Double vision
|
0000651 |
|
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 |
|
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 |
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 |
|
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
| Pulmonary arterial |
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 |
| 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 | |
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
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
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.
|
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: https://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: https://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: https://www.gaucherdisease.org/
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.
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. https://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; https://nordphysicianguides.org/gaucher-disease/.
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