HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 (FHBL2)

Question 1

What is  HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 (FHBL2)?

Accepted Answer

very rare

autosomal recessive

mutation in the ANGPTL3 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 615019

Question 3

Which enzymes are involved?

Accepted Answer

Angiopoietin-related protein 3

Disease	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 (FHBL2)
Synonym	HYPOLIPIDEMIA, FAMILIAL, COMBINED
OMIM	615019 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Angiopoietin-related protein 3
Gene locus	1p31.3
ICD
Summary	very rare autosomal recessive mutation in the ANGPTL3 gene
Laboratory findings	HDL-Cholesterol dec (plasma) LDL-Cholesterol dec (plasm) Triglycerides dec (serum)
Symptoms	onset, adolescent onset, childhood onset, infancy