Hydrops fetalis
Gene: CTSA
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
Gene: ctsa has been classified as Green List (High Evidence).
Phenotypes for gene: CTSA were changed from to Galactosialidosis, MIM# 256540
Publications for gene: CTSA were set to
Mode of inheritance for gene: CTSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: CTSA was added gene: CTSA was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTSA was set to Unknown