Gaucher disease type 2

Title

Other Names:

GD 2; Gaucher disease, infantile cerebral; Gaucher disease, acute neuronopathic type

Categories:

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

This disease is grouped under:

Gaucher disease

Summary Summary

Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms usually develop by 3 months of age and include brain damage, seizures, abnormal eye movements, poor ability to suck and swallow, and enlargement of the liver and spleen.^[1]^[2]^[3] Many children die by 2 to 4 years of age.^[1]^[3] Gaucher disease type 2 is caused by mutations in the GBA gene. It is inherited in an autosomal recessive pattern.^[2]^[3] While enzyme replacement therapy is available for some types of Gaucher disease, children with Gaucher disease type 2 generally don't respond to this treatment. Evaluation at a comprehensive center specializing in Gaucher disease and supportive care is appropriate for all affected children.^[3]

Last updated: 1/10/2018

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
Abnormal pattern of respiration	Abnormal respiratory patterns Unusual breathing patterns [ more ]	0002793
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Dystonia		0001332
Encephalopathy		0001298
Hepatomegaly	Enlarged liver	0002240
Ophthalmoplegia	Eye muscle paralysis	0000602
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Splenomegaly	Increased spleen size	0001744
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
30%-79% of people have these symptoms
Cough	Coughing	0012735
Flexion contracture	Flexed joint that cannot be straightened	0001371
Generalized myoclonic seizure		0002123
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
5%-29% of people have these symptoms
Cardiac arrest	Heart stops beating	0001695
Percent of people who have these symptoms is not available through HPO
Anemia	Low number of red blood cells or hemoglobin	0001903
Apnea		0002104
Autosomal recessive inheritance		0000007
Bulbar signs		0002483
Cerebral atrophy	Degeneration of cerebrum	0002059
Esotropia	Inward turning cross eyed	0000565
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Global developmental delay		0001263
Hyperreflexia	Increased reflexes	0001347
Oculomotor apraxia		0000657
Progressive neurologic deterioration	Worsening neurological symptoms	0002344
Protuberant abdomen	Belly sticks out Extended belly [ more ]	0001538
Psychomotor retardation		0025356
Recurrent aspiration pneumonia		0002100
Rigidity	Muscle rigidity	0002063
Seizure		0001250
Thrombocytopenia	Low platelet count	0001873
Trismus	Lockjaw	0000211

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

Last updated: 11/1/2020

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.

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 2 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

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.

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 2. 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

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.
The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

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 2. 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.
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 2. Click on the link to view a sample search on this topic.

News & Events News & Events

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