Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

familial apolipoprotein gene cluster deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial apolipoprotein gene cluster deletion syndrome

MONDO:0859290

Overview

GeneticsAutosomal dominant

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), Hypocholesterolemia, Corneal arcus, and Hypotriglyceridemia and 2 more.

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

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 apolipoprotein gene cluster deletion syndrome.

1 publication has been identified in PubMed for familial apolipoprotein gene cluster deletion syndrome. Research spans Gene Therapy / Novel Therapeutics (100%).

Recent Publications

Fontanellas A (2025). [PMID: 39988358](https://pubmed.ncbi.nlm.nih.gov/39988358/). *Gut*. [Gene Therapy / Novel Therapeutics]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620058

Questions for Your Care Team

→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

familial apolipoprotein gene cluster deletion syndrome

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features