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Gaucher disease type 3


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Other Names:
GD 3; Gaucher disease, juvenile and adult, cerebral; Gaucher disease, chronic neuronopathic type; GD 3; Gaucher disease, juvenile and adult, cerebral; Gaucher disease, chronic neuronopathic type; Gaucher disease, subacute neuronopathic type See More
Categories:
Congenital and Genetic Diseases; Eye diseases; Lung Diseases; Congenital and Genetic Diseases; Eye diseases; Lung Diseases; Metabolic disorders; Musculoskeletal Diseases; Nervous System Diseases See More
This disease is grouped under:
Gaucher disease

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 77261

Definition
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

Epidemiology
The annual incidence of GD is about 1/60,000 and the prevalence is approximately 1/100,000. GD type 3 accounts for 5% of all patients with GD.

Clinical description
The clinical presentation is very heterogeneous. Neurological disease appears in childhood or adolescence, a much later onset than in GD type 2 (see this term). Encephalopathy can be the presenting sign of the disease or may occur later in the disease course. Some patients have moderate systemic involvement associated with ophthalmoplegia as the only neurological symptom. For the more severe forms, the neurological signs encountered are variable: supranuclear horizontal ophthalmoplegia, progressive myoclonic epilepsy, cerebellar ataxia, spasticity and dementia. GD type 3 is also associated with the clinical and biological signs of ''systemic'' disease, such as frequent asthenia, growth retardation or delayed puberty, splenomegaly and hepatomegaly. Bone anomalies may also be present and manifest as deformations, osteopenia, which sometimes leads to pathological fractures or vertebral compression, bone infarctions or even aseptic osteonecrosis. Involvement of other organs (rarely symptomatic pulmonary, renal and cardiac) is less common. Pancytopenia is frequent and involves varying degrees of thrombocytopenia (sometimes severe), anemia and, less frequently, leukoneutropenia. Polyclonal hypergammaglobulinemia is often present and is sometimes complicated by monoclonal gammapathy.

Etiology
GD type 3 is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that codes for the lysosomal enzyme, glucocerebrosidase. The deficiency in glucocerebrosidase leads to the accumulation of glucosylceramidase (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, spleen and the bone marrow (Gaucher cells).

Diagnostic methods
Diagnostic methods involve ultrasound and magnetic resonance imaging (MRI) for initial evaluation and subsequent monitoring of hepatosplenomegaly, radiography and bone scintigraphy to detect bone lesions and complications, osteodensitometry for the evaluation of osteopenia of the lumbar spine and femoral neck, and cardiac ultrasound for the detection of pulmonary arterial hypertension. An increase in certain biological markers that are important both for the initial diagnosis and monitoring with or without treatment, is also observed: chitotriosidase, an angiotensin converting enzyme, ferritin and tartrate-resistant acid phosphatases. Diagnosis can be confirmed by demonstrating a deficit in the enzymatic activity of glucocerebrosidase in circulating leukocytes. In rare cases, genotyping may be of prognostic value: a patient with a homozygous L444P mutation in the GBA gene has a very high risk of developing neurological disease.

Genetic counseling
Transmission is autosomal recessive.

Management and treatment
The treatment for patients with GD type 3 exhibiting clinically significant non neurological manifestations is enzyme substitution therapy (imiglucerase with marketing authorization (MA) since 1997). It appears to slow progression of the neurological symptoms and is effective against the systemic manifestations.

Prognosis
In the absence of treatment, clinical progression leads to death within a few years.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2012

Symptoms Symptoms


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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.

Showing of 44 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Bone pain 0002653
Encephalopathy 0001298
Fatigue
Tired
Tiredness
[ more ]
0012378
Hepatomegaly
Enlarged liver
0002240
Increased bone mineral density
Increased bone density
0011001
Increased susceptibility to fractures
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ]
0002659
Ophthalmoplegia
Eye muscle paralysis
0000602
Osteolysis
Breakdown of bone
0002797
Splenomegaly
Increased spleen size
0001744
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
30%-79% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Ataxia 0001251
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
0000823
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Dementia
Dementia, progressive
Progressive dementia
[ more ]
0000726
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
0001288
Generalized myoclonic seizure 0002123
Hydrops fetalis 0001789
Increased circulating antibody level 0010702
Pancytopenia
Low blood cell count
0001876
Thrombocytopenia
Low platelet count
0001873
5%-29% of people have these symptoms
Abnormal myocardium morphology 0001637
Abnormal pulmonary Interstitial morphology
Abnormality in area between air sacs in lung
0006530
Aortic valve calcification 0004380
Hematuria
Blood in urine
0000790
Mitral valve calcification 0004382
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
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
0002205
Percent of people who have these symptoms is not available through HPO
Adult onset
Symptoms begin in adulthood
0003581
Autosomal recessive inheritance 0000007
Decreased beta-glucocerebrosidase level 0003656
Decreased body weight
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
0004325
Depressivity
Depression
0000716
Horizontal supranuclear gaze palsy 0007817
Motor delay 0001270
Myoclonus 0001336
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ]
0002167
Progressive neurologic deterioration
Worsening neurological symptoms
0002344
Short stature
Decreased body height
Small stature
[ more ]
0004322
Spastic paraparesis 0002313
Vascular calcification 0004934
Showing of 44 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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.

Treatment Treatment


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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 3 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. 

Find a Specialist Find a Specialist


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

Research Research


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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 3. 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


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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


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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


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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 3. This website is maintained by the National Library of Medicine.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • 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.
  • 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 3. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

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

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.
You can help advance
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You can help advance rare disease research!
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