GAUCHER DISEASE TYPE IIIC | |
231005
OMIM = Online Mendelian Inheritance of Men | |
355 | |
Glucosylceramidase | |
3.2.1.45 | |
1q22 |
|
E75.2 | |
rare autosomal recessive Type IIIC is a rare subgroup characterised by cardiovascular involvement as well as eye-movement disorders and late-onset neurological symptoms [Kör Y et al. 2017] | |
Laboratory findings | Glucosylceramidase dec (leucocytes) |
Symptoms | arterial calcification cardiac involvement, cardiac defects cardiomegaly corneal deposits heart involvement hepatomegaly (large liver) hydrocephalus onset, adolescent onset, childhood pancytopenia punctate calcifications seizures splenomegaly (large spleen) strabismus syncope valvular heart disease |