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Summary
GAUCHER DISEASE TYPE IIIC
231005
OMIM = Online Medalian Inheritance of Men
355
1q22
rare
autosomal recessive
Type IIIC is a rare subgroup characterised by cardiovascular involvement as well as eye-movement disorders and late-onset neurological symptoms [K+Âr Y et al. 2017]
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
laboratory finding
Glucosylceramidase (beta-Glucosidase) decreased activityleucocytes
Literature
New Author000
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
New Author000