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hypoalphalipoproteinemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypoalphalipoproteinemia

MONDO:0017773

Overview

A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein (HDL) in the circulation resulting in tissue accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system . The major clinical signs of Tangier disease include hyperplastic yellow-orange tonsils, peripheral neuropathy, and hepatosplenomegaly. The clinical course of neuropathy may be either relapsing-remitting or chronic progressive . However, the clinical expression of Tangier disease is variable, with some affected individuals only showing biochemical perturbation.

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

Formal clinical diagnostic criteria for Tangier disease have not been published.

Suggestive Findings

Tangier disease should be suspected in individuals with the following clinical and supportive laboratory findings.

Clinical findings

Enlarged tonsils that are yellow and/or orange in children and young adults

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 hypoalphalipoproteinemia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Tangier disease, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Tangier Disease

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with Tangier Disease

System/Concern

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.

22 publications have been identified in PubMed for hypoalphalipoproteinemia. Research spans Epidemiology / Natural History (59%), Review / Meta-Analysis (18%), and Case Report / Case Series (9%).

Research Type	Count	% of Total
Disease patterns and progression	13	59%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:31153

GARD

Genetic and Rare Diseases Info Center

GARD:18801

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?

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Kisho

hypoalphalipoproteinemia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

hypoalphalipoproteinemia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications