Causes of Gaucher Disease

Causes of Gaucher Disease

Gaucher disease is caused by mutations in the GBA gene.

List of causes of Gaucher Disease

Following is a list of causes or underlying conditions (see also Misdiagnosis of underlying causes of Gaucher Disease) that could possibly cause Gaucher Disease includes:

• All 3 forms of Gaucher disease are caused by glucocerebrosidase activity deficiency due to mutations in GBA, structural gene that encodes the enzyme. Widespread accumulation of glucosylceramide-laden macrophages results from the enzyme deficiency

Gaucher Disease: Related Medical Conditions

To research the causes of Gaucher Disease, consider researching the causes of these these diseases that may be similar, or associated with Gaucher Disease:

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

Gaucher Disease: Causes and Types

Causes of Types of Gaucher Disease: Review the cause informationfor the various 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...»

Causes of Broader Categories of Gaucher Disease: Review the causal information about the various more general categories of medical conditions:

• Liver conditions
• Chronic liver disease
• Brain conditions
• Genetic Disease
• Bone Marrow Conditions
• Spleen conditions
• more types...»

Gaucher Disease as a symptom:

Conditions listing Gaucher Disease as a symptom may also be potential underlying causes of Gaucher Disease. Our database lists the following as having Gaucher Disease as a symptom of that condition:

• Gaucher ichthyosis restrictive dermopathy

What causes Gaucher Disease?

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

Related information on causes of Gaucher Disease:

As with all medical conditions, there may be many causal factors. Further relevant information on causes of Gaucher Disease may be found in:

• Contagiousness for Gaucher Disease
• Genetics of Gaucher Disease
• Hidden causes of Gaucher Disease

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