Gaucher's disease type I

info · Genetic · ICD-10: E75.2

A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.

Signs and symptoms

Elevated circulating glucosylsphingosine concentration
Hypersplenism
Hepatomegaly
Avascular necrosis
Anemia
Abnormal pulmonary interstitial morphology
Hyperpigmentation of the skin
Macular atrophy
Multiple myeloma
Vertebral compression fracture

Also known as: Acid Beta-Glucosidase Deficiency; GD I; GD1; Gaucher Disease, Noncerebral Juvenile; Gba Deficiency