CHOLESTERYL ESTER STORAGE DISEASE

Question 1

What is  CHOLESTERYL ESTER STORAGE DISEASE?

Accepted Answer

rare (41 cases)
autosomal recessive
mutation in the LIPA gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Cholesterinester-Speicherkrankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 278000

Question 4

Which enzymes are involved?

Accepted Answer

lysosomal acid lipase

Disease	CHOLESTERYL ESTER STORAGE DISEASE
Synonym	LYSOSOMAL ACID LIPASE DEFICIENCY
OMIM	278000 OMIM = Online Mendelian Inheritance of Men
Orphanet	75234
Protein (UniProt)	lysosomal acid lipase
ExPASy	3.1.1.13
Gene locus	10q23.31 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Lipase A, lysosomal acid, cholesterol esterase
ICD	E75.5
Summary	rare (41 cases) autosomal recessive mutation in the LIPA gene
Laboratory findings	Cholesterol inc (serum) Triglycerides inc (serum)
Symptoms	adrenal calcification cirrhosis or fibrosis of liver eosinophilia hepatomegaly (large liver) liver failure onset, childhood pain, abdominal splenomegaly (large spleen) xanthoma