Hydrops fetalis

Gene: CTSA

Green List (high evidence)

Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in protective protein/cathepsin A (PPCA). All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death.

Created: 6 Mar 2021, 9:10 a.m. | Last Modified: 6 Mar 2021, 9:10 a.m.

Panel Version: 0.198

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactosialidosis, MIM# 256540

Publications

• 8514852
• 8968752