GAUCHER DISEASE TYPE IIIC

Question 1

What is  GAUCHER DISEASE TYPE IIIC?

Accepted Answer

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]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Gaucher-Krankheit, Glukozerebrosidase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 231005

Question 4

Which enzymes are involved?

Accepted Answer

Glucosylceramidase

Disease	GAUCHER DISEASE TYPE IIIC
OMIM	231005 OMIM = Online Mendelian Inheritance of Men
Orphanet	355
Protein (UniProt)	Glucosylceramidase
ExPASy	3.2.1.45
Gene locus	1q22
ICD	E75.2
Summary	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