APOLIPOPROTEIN C-II DEFICIENCY

Question 1

What is  APOLIPOPROTEIN C-II DEFICIENCY?

Accepted Answer

rare (30 cases)
autosomal recessive
mutation in the APOC2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Apolipoprotein CII-Mangel, familiärer

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 207750

Question 4

Which enzymes are involved?

Accepted Answer

Apolipoprotein C-II

Disease	APOLIPOPROTEIN C-II DEFICIENCY
Synonym	HYPERLIPOPROTEINEMIA TYPE I
OMIM	207750 OMIM = Online Mendelian Inheritance of Men
Orphanet	309020
Protein (UniProt)	Apolipoprotein C-II
Gene locus	19q13.32
ICD	E78.3
Summary	rare (30 cases) autosomal recessive mutation in the APOC2 gene
Laboratory findings	Cholesterol inc (serum) Chylomicrons () HDL-Cholesterol dec (plasma) HDL-Cholesterol dec (serum) Triglycerides inc (serum) Very low density lipoproteins (VLDL) ()
Symptoms	anemia hepatomegaly (large liver) lipemia retinalis onset, adolescent pain, abdominal pancreatitis recent memory loss splenomegaly (large spleen) xanthoma