HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOLIPIDEMIA, FAMILIAL, COMBINED
FHBL2
Number of Symptoms 11
OrphanetNr:
OMIM Id: 605019
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012153) Hypotriglyceridemia 20942659 IBIS 4 / 7739
2
(HPO:0003563) Hypobetalipoproteinemia 20942659 IBIS 9 / 7739
3
(OMIM) Low apolipoprotein 1 / 7739
4
(OMIM) Near-complete absence of VLDL peak on density gradient ultracentrifugation (in some patients) 1 / 7739
5
(OMIM) Low LDL cholesterol 1 / 7739
6
(OMIM) Marked hypoalphalipoproteinemia (in some patients) 1 / 7739
7
(OMIM) Low to very low HDL cholesterol 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(OMIM) Low triglycerides 1 / 7739
10
(OMIM) Marked hypobetalipoproteinemia 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low ...
Clinical Description OMIM Pisciotta et al. (2012) studied 3 kindreds from northern Italy in which affected members had absence of plasma ANGPTL3 and mutations in the ANGPTL3 gene (see MOLECULAR GENETICS). In the first kindred, the proband was a 65-year-old woman ...
Molecular genetics OMIM Musunuru et al. (2010) performed whole-genome exome sequencing in 2 sibs with a clinical syndrome of combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides, from the 4-generation FHBL family originally studied ...