What is Gaucher Disease?

What is Gaucher Disease?

• Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3.
• Gaucher Disease: An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see GLUCOSYLCERAMIDASE) featuring the pathological storage of glycosylceramide in mononuclear PHAGOCYTES (Gaucher Cells). The most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities. The neuronopathic forms are divided into infantile and juvenile forms. The infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly. The juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ATAXIA, myoclonic SEIZURES, and spasticity. The neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. (From Baillieres Clin Haematol 1997 Dec;10(4):711-23; Menkes, Textbook of Child Neurology, 5th ed, p97)
  Source - Diseases Database

Gaucher Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Gaucher Disease, or a subtype of Gaucher Disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Gaucher Disease as a "rare disease".
Source - Orphanet

Gaucher Disease: Introduction

Types of Gaucher Disease:

Types of Gaucher Disease:

• Type 1 adult Gaucher disease - most common; adult Gaucher disease, or chronic non-neuronopathic
• Type 2 infantile Gaucher disease - infantile, or acute neuronopathic
• Type 3 juvenile Gaucher disease - juvenile, or subacute neuronopathic
• more types...»

Broader types of Gaucher Disease:

• Liver conditions
• Chronic liver disease
• Brain conditions
• Genetic Disease
• Bone Marrow Conditions
• Spleen conditions
• Genetic conditions
• Metabolic conditions
• Congenital conditions - metabolic disorders
• Congenital conditions
• Lipid metabolism conditions
• more types...»

How many people get Gaucher Disease?

Prevalance of Gaucher Disease: 1 per 50,000 - 100,000 people are affected by Gaucher disease, Genetics Home Reference website
Prevalance Rate of Gaucher Disease: approx 1 in 50,000 or 0.00% or 5,440 people in USA [about data]
Prevalance of Gaucher Disease: Among the Ashkenazi Jewish population, Gaucher disease is the most common genetic disorder, with an incidence of approximately 1 in 450 persons. In the general public, Gaucher disease affects approximately 1 in 100,000 persons. According to the National Gaucher Foundation, 2500 Americans suffer from Gaucher disease. (Source: Genes and Disease by the National Center for Biotechnology)

Who gets Gaucher Disease?

Profile for Gaucher Disease: Gaucher disease is considerably more common in the descendants of Jewish people from Eastern Europe (Ashkenazi), although individuals from any ethnic group may be affected. Among the Ashkenazi Jewish population, Gaucher disease is the most common genetic disorder, with an incidence of approximately 1 in 450 persons. In the general public, Gaucher disease affects approximately 1 in 100,000 persons. According to the National Gaucher Foundation, 2500 Americans suffer from Gaucher disease. (Source: Genes and Disease by the National Center for Biotechnology)

How serious is Gaucher Disease?

Prognosis of Gaucher Disease: Many individuals with Gaucher disease have few manifestations and a normal life expectancy without any intervention.
Complications of Gaucher Disease: see complications of Gaucher Disease
Prognosis of Gaucher Disease: There is no permanent cure for Gaucher’s. Enzyme replacement therapy is very beneficial for type 1 patients and most of the type 3 patients with this condition. (Source: excerpt from NINDS Gaucher's Disease Information Page: NINDS)

What causes Gaucher Disease?

Causes of Gaucher Disease: see causes of Gaucher Disease
Cause of Gaucher Disease: Genetic defect causing a deficiency of an enzyme called glucocerebrosidase

What are the symptoms of Gaucher Disease?

Symptoms of Gaucher Disease: see symptoms of Gaucher Disease

Complications of Gaucher Disease: see complications of Gaucher Disease

Onset of Gaucher Disease: early childhood

Can anyone else get Gaucher Disease?

Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.
More information: see contagiousness of Gaucher Disease
Inheritance: see inheritance of Gaucher Disease

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Gaucher Disease: Testing

Diagnostic testing: see tests for Gaucher Disease.

Misdiagnosis: see misdiagnosis and Gaucher Disease.

How is it treated?

Doctors and Medical Specialists for Gaucher Disease: Hepatologist ; see also doctors and medical specialists for Gaucher Disease.
Treatments for Gaucher Disease: see treatments for Gaucher Disease
Research for Gaucher Disease: see research for Gaucher Disease

Organs Affected by Gaucher Disease:

Organs and body systems related to Gaucher Disease include:

• Metabolism
• Spleen
• Liver
• Lungs
• Bone marrow
• Brain

Name and Aliases of Gaucher Disease

Main name of condition: Gaucher Disease

Class of Condition for Gaucher Disease: genetic

Gaucher’s disease, Acute cerebral Gaucher disease

Glucocerebrosidase deficiency, Glucocerebrosidosis Source - Diseases Database

Acid Beta-glucosidase Deficiency, Acute Cerebral Gaucher Disease, Cerebroside Lipidosis, Gaucher-Schlagenhaufer, Glucocerebrosidase deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Gaucher Disease: Related Conditions

Research the causes of these diseases that are similar to, or related to, Gaucher Disease:

• Glucocerebrosidase deficiency
• Cerebroside lipidosis
• Acid beta-glucosidase deficiency
• Splenomegaly
• Anemia
• Lipid storage disease
• Lysosomal storage disease
• Glucocerebrosidase
• Glucosylceramidase
• GBA

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