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Disease Profile
Gaucher disease type 2
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.
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Age of onset
Infancy
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)
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
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 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
0001332 | ||
0001298 | ||
Hepatomegaly |
Enlarged liver
|
0002240 |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
30%-79% of people have these symptoms | ||
Cough |
Coughing
|
0012735 |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Generalized myoclonic |
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 | ||
Low number of red blood cells or hemoglobin
|
0001903 | |
Apnea | 0002104 | |
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 |
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 | |
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
-
Children's Gaucher Research Fund
P.O. Box 2123
Granite Bay, CA 95746-2123
Telephone: 916-797-3700
Fax: 916-797-3707
E-mail: [email protected]
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: [email protected]
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: [email protected]
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 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
- 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.
- Gaucher disease. Genetics Home Reference (GHR). September 2014; https://ghr.nlm.nih.gov/condition/gaucher-disease.
- Pastores GM, Hughes DA. Gaucher Disease. GeneReviews. February 26, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1269/.