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Disease Profile

Gaucher disease

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

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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)

Acute cerebral Gaucher disease; Cerebroside lipidosis syndrome; Gaucher splenomegaly;

Categories

Heart Diseases; Metabolic disorders

Summary

Gaucher disease refers to a group of inherited metabolic diseases in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body (lipid storage disorder).[1][2] Signs and symptoms vary widely among affected individuals and may include skeletal disorders, enlarged spleen and liver (hepatosplenomegaly), liver malfunction, anemia, low platelet counts, bone problems, and neurological problems.[1] 

There are different types of Gaucher disease classified according to specific features and severity: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, and cardiovascular type or Type 3C (where the main problem is a hardening (calcification) of the heart valves). Gaucher disease type 1 is the most common form. Gaucher disease follows an autosomal recessive pattern of inheritance. It is caused by mutations in the GBA gene.[1][3] Treatment depends on the specific subtype, and may include enzyme replacement therapy (ERT) or substrate reduction therapy (SRT).[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
Anemia
Low number of red blood cells or hemoglobin
0001903
Fatigue
Tired
Tiredness

[ more ]

0012378
Hepatomegaly
Enlarged liver
0002240
Splenomegaly
Increased spleen size
0001744
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Arthralgia
Joint pain
0002829
Ataxia
0001251
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Bone pain
0002653
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Depressivity
Depression
0000716
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Feeding difficulties in infancy
0008872
Fever
0001945
Generalized myoclonic seizure
0002123
Joint dislocation
Joint dislocations
Recurrent joint dislocations

[ more ]

0001373
Osteopenia
0000938
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures

[ more ]

0002757
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Thrombocytopenia
Low platelet count
0001873
5%-29% of people have these symptoms
Abnormal macular morphology
0001103
Abnormal myocardium morphology
0001637
Abnormal pericardium morphology
0001697
Abnormality of extrapyramidal motor function
0002071
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly

[ more ]

0001000
Aortic valve calcification
0004380
Arthrogryposis multiplex congenita
0002804
Cherry red spot of the macula
0010729
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Corneal opacity
0007957
Cranial nerve paralysis
0006824
Death in infancy
Infantile death
Lethal in infancy

[ more ]

0001522
Elevated C-reactive protein level
0011227
Gingival bleeding
Bleeding gums
0000225
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hematuria
Blood in urine
0000790
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Hepatitis
Liver inflammation
0012115
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hydrops fetalis
0001789
Ichthyosis
0008064
Increased bone mineral density
Increased bone density
0011001
Increased circulating antibody level
0010702
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Mitral valve calcification
0004382
Muscular hypotonia
Low or weak muscle tone
0001252
Oculomotor apraxia
0000657
Osteoarthritis
Degenerative joint disease
0002758
Osteolysis
Breakdown of bone
0002797
Osteomyelitis
Bone infection
0002754
Pancytopenia
Low blood cell count
0001876
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Pulmonary fibrosis
0002206
Respiratory insufficiency
Respiratory impairment
0002093
Retinopathy
Noninflammatory retina disease
0000488
Short stature
Decreased body height
Small stature

[ more ]

0004322
Tremor

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.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.

    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 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

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

            References

            1. Gaucher disease. MedlinePlus Genetics. September 2014; https://medlineplus.gov/genetics/condition/gaucher-disease/.
            2. Lipid Storage Diseases Fact Sheet. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Lipid-Storage-Fact-Sheet.
            3. Pastores GM & Hughes DA. Gaucher Disease. GeneReviews. 2015; https://www.ncbi.nlm.nih.gov/books/NBK1269/.

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