Our Gaucher Disease Main Article provides a comprehensive look at the who, what, when and how of Gaucher Disease
Definition of Gaucher disease, types 2-5
Gaucher disease, types 2-5: A series of diseases due to glucocerebrosidase deficiency and accumulation of glucocerebroside in cells. By comparison with type 1 Gaucher disease, these are far less frequent forms of Gaucher disease.
Types 2 and 3 Gaucher disease are characterized by primary neurologic disease including profound involvement of the brain. The onset of symptoms is before age 2 in both types 2 and 3 with death by age 2 to 4 in type 2 and a more slowly progressive course with survival into the third or fourth decade in type 3. Types 2 and 3 are collectively known as infantile cerebral Gaucher disease.
Type 4 Gaucher disease is lethal in the perinatal period and is marked by collodion skin and hydrops fetalis.
Type 5 is the cardiovascular form of Gaucher disease with calcification of the aortic and mitral valves, mild spleen enlargement, and eye involvement.
See the entries also to:
Last Editorial Review: 9/20/2012
Back to MedTerms online medical dictionary A-Z List
Need help identifying pills and medications?
- Allergic Skin Disorders
- Bacterial Skin Diseases
- Bites and Infestations
- Diseases of Pigment
- Fungal Skin Diseases
- Medical Anatomy and Illustrations
- Noncancerous, Precancerous & Cancerous Tumors
- Oral Health Conditions
- Papules, Scales, Plaques and Eruptions
- Scalp, Hair and Nails
- Sexually Transmitted Diseases (STDs)
- Vascular, Lymphatic and Systemic Conditions
- Viral Skin Diseases
- Additional Skin Conditions