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Disease Profile

Gaucher disease type 2

Prevalence
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 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

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

Categories

Congenital and Genetic Diseases; Eye diseases; Lung Diseases;

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]

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
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

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

    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.

      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

        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.

            References

            1. NINDS Gaucher's Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/Disorders/All-Disorders/Gaucher-Disease-Information-Page.
            2. Gaucher disease. Genetics Home Reference (GHR). September 2014; https://ghr.nlm.nih.gov/condition/gaucher-disease.
            3. Pastores GM, Hughes DA. Gaucher Disease. GeneReviews. February 26, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1269/.