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familial hypobetalipoproteinemia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial hypobetalipoproteinemia 2

MONDO:0011505

Also known as:ANGPTL3 hypobetalipoproteinemiaFHBL2combined familial hypolipidemia

Overview

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

GeneticsAutosomal recessive · ANGPTL3 (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Decreased LDL cholesterol concentration and Hypotriglyceridemia.

Organ System	Phenotype Count	Example Features
Digestive system	1	Decreased LDL cholesterol concentration

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ANGPTL3 encodes angiopoietin like 3 (460 aa). Acts in part as a hepatokine that is involved in regulation of lipid and glucose metabolism. Highest expression in Liver (133.8 TPM) and Kidney Cortex (5.1 TPM).

Familial hypobetalipoproteinemia 2 is caused by mutations in the ANGPTL3 gene on chromosome 1.

The ANGPTL3 protein participates in Expression of ANGPTL3 regulated by NR1H2 or NR1H3 pathway.

ANGPTL3 is classified as a druggable target (Cell Surface, Druggable Genome, Fibrinogen, and Growth Factor categories) with score 26.1.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Familial combined hypolipidemia should be suspected in individuals with the following laboratory findings and family history.

Laboratory findings*

Hypocholesterolemia with a total cholesterol of 1.9 ± 0.5 mmol/L (1.3-2.8)
Low plasma low-density lipoprotein (LDL) cholesterol of 1.3 ± 0.6 mmol/L (0.5-1.4)

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for familial hypobetalipoproteinemia 2. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for familial combined hypolipidemia have been published. No specific evaluation, management, or surveillance is required for individuals who have familial combined hypolipidemia . Consultation with a medical geneticist, certified genetic counselor, or certified advanced genetic nurse to inform affected individuals and their families about the nature, mode of inheritance, and lack of specific clinical implications of familial combined hypolipidemia should be considered

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial hypobetalipoproteinemia 2.

15 publications have been identified in PubMed for familial hypobetalipoproteinemia 2. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	5	33%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605019

GARD

Genetic and Rare Diseases Info Center

GARD:15376

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

familial hypobetalipoproteinemia 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

PCSK9

SAR1B

Evaluation of Relatives at Risk

Therapies Under Investigation

Therapies Under Investigation

Clinical Trials

Recent Publications

familial hypobetalipoproteinemia 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

PCSK9

SAR1B

Evaluation of Relatives at Risk

Therapies Under Investigation

Therapies Under Investigation

Clinical Trials

Recent Publications