HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (FHBL1)

Question 1

What is  HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (FHBL1)?

Accepted Answer

rare

autosomal recessive

mutation in the APOB gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 615558

Question 3

Which enzymes are involved?

Accepted Answer

Apolipoprotein B-100

Disease	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (FHBL1)
Synonym	ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA
OMIM	615558 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Apolipoprotein B-100
Gene locus	2p24.1
ICD	E78.6
Summary	rare autosomal recessive mutation in the APOB gene
Laboratory findings	HDL-Cholesterol dec (plasma) LDL-Cholesterol dec (plasma) Triglycerides dec (serum) Apolipoprotein (Apo B) dec (plasma)
Symptoms	ataxia hyporeflexia onset, adolescent onset, childhood onset, infancy onset, neonatal retinitis pigmentosa