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hypoalphalipoproteinemia, primary, 2, intermediate - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypoalphalipoproteinemia, primary, 2, intermediate

MONDO:0859238

Overview

GeneticsAutosomal dominant · APOA1 (chr 11)

ResearchLimited published research (1 article)

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: Low HDL ("good") cholesterol (decreased hdl cholesterol concentration) and Decreased circulating apolipoprotein A-I concentration.

Organ System	Phenotype Count	Example Features
Digestive system	1	Low HDL ("good") cholesterol (decreased hdl cholesterol concentration)

Explore clinical features

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.

APOA1 encodes apolipoprotein A1 (267 aa). Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). Highest expression in Liver (5,952 TPM) and Testis (453.4 TPM).

Hypoalphalipoproteinemia, primary, 2, intermediate is associated with mutations in the APOA1 gene on chromosome 11.

The APOA1 protein participates in Expression of APOA1 pathway.

APOA1 is classified as a druggable target (Cell Surface, Druggable Genome, and Enzyme categories) with score 4.5.

Diagnosis

Genetic testing for APOA1 is available. Testing is considered confirmatory for diagnosis.

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 hypoalphalipoproteinemia, primary, 2, intermediate.

1 publication has been identified in PubMed for hypoalphalipoproteinemia, primary, 2, intermediate. Research spans Case Report / Case Series (100%).

Recent Publications

Semmler G (2025). [PMID: 40037526](https://pubmed.ncbi.nlm.nih.gov/40037526/). *J Clin Endocrinol Metab*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619836

Questions for Your Care Team

→Should I pursue genetic testing for APOA1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hypoalphalipoproteinemia, primary, 2, intermediate

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team