familial hypobetalipoproteinemia 2

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Imprimir

Resumen

Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.

Sinónimos

ANGPTL3 hypobetalipoproteinemia
FHBL2
combined familial hypolipidemia
familial hypobetalipoproteinemia 2
familial hypobetalipoproteinemia type 2
hypobetalipoproteinemia caused by mutation in ANGPTL3
hypobetalipoproteinemia, familial, 2
hypobetalipoproteinemia, familial, type 2
hypolipidemia, familial, combined

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

View report

OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.