Rare Rheumatology News

Disease Profile

Gaucher disease type 1

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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

ageofonset-all.svg

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

no.svg

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

rnn-autosomalrecessive.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

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 enzyme that breaks down a fatty chemical called glucocerebroside.[1][2][3] Because the body cannot break down this chemical, fat-filled Gaucher cells build up in areas like the spleen, liver and bone marrow.[2] Unlike type 2 and 3, GD1 does not usually involve the brain and spinal cord (central nervous system). Symptoms of GD1 include enlarged spleen and liver, low blood cell counts, bleeding problems and bone disease. The symptoms can range from mild to severe and may appear anytime from childhood to adulthood. Gaucher disease is caused by changes (mutations) in the GBA gene and is inherited in an autosomal recessive manner.[1][2][3] Diagnosis is suspected by clinical symptoms and confirmed by measuring GBA enzyme activity or genetic testing. Treatments may include enzyme replacement therapy or medications that affect the making of fatty molecules (substrate reduction therapy).[2][3]

Symptoms

Although symptoms of Gaucher disease type 1 (GD1) may vary greatly, the major symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), chronic fatigue, lung disease, and bone disease such as bone pain, fractures, and arthritis. People with GD1 may be at in increased risk for Parkinson disease, peripheral neuropathy, certain cancers, and osteoporosis.[1][2]

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 susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Diplopia
Double vision
0000651
Dysphagia
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
Ptosis
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 antibody level
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
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Pulmonary arterial hypertension
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
Autosomal recessive inheritance
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.

        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 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

              1. 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.
              2. Gaucher Disease Type 1. National Gaucher Foundation. https://www.gaucherdisease.org/about-gaucher-disease/what-is/type-1/. Accessed 12/9/2016.
              3. Brady RO. NORD Physician Guide to Gaucher Diseas. National Organization for Rare Disorder. 2013; https://nordphysicianguides.org/gaucher-disease/.

              Rare Rheumatology News