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sea-blue histiocyte syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sea-blue histiocyte syndrome

MONDO:0010017

Also known as:histiocytosis, Sea-blueinherited Lipemic splenomegalysea-blue histiocytosis

Overview

A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.

GeneticsAutosomal recessive · APOE (chr 19)

ResearchLimited published research (8 articles)

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 always present findings: Elevated circulating aspartate aminotransferase concentration, Sea-blue histiocytosis, Foam cells, and Low platelet count (thrombocytopenia) and others. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine aminotransferase 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.

APOE encodes apolipoprotein E (317 aa). APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids. Highest expression in Adrenal Gland (3,543 TPM) and Liver (3,182 TPM).

Sea-blue histiocyte syndrome is associated with mutations in the APOE gene on chromosome 19.

APOE is classified as a druggable target (Druggable Genome category) with score 0.9.

Diagnosis

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

Biomarker and diagnostic research for sea-blue histiocyte syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features.

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 sea-blue histiocyte syndrome.

8 publications have been identified in PubMed for sea-blue histiocyte syndrome. Research spans Case Report / Case Series (88%) and Diagnostic / Biomarker (13%).

Recent Publications

Liu W (2026). [PMID: 41791926](https://pubmed.ncbi.nlm.nih.gov/41791926/). *Journal of clinical lipidology*. [Case Report / Case Series]
Safatle-Ribeiro AV (2025). [PMID: 40148218](https://pubmed.ncbi.nlm.nih.gov/40148218/). *Endoscopy*. [Diagnostic / Biomarker]
Ferreira EA (2025). [PMID: 40149441](https://pubmed.ncbi.nlm.nih.gov/40149441/). *Genes*. [Case Report / Case Series]
Mrad S (2025). [PMID: 41879707](https://pubmed.ncbi.nlm.nih.gov/41879707/). *La Tunisie medicale*. [Case Report / Case Series]
Zambrano AK (2025). [PMID: 40779757](https://pubmed.ncbi.nlm.nih.gov/40779757/). *Medwave*. [Case Report / Case Series]
She QY (2024). [PMID: 39027568](https://pubmed.ncbi.nlm.nih.gov/39027568/). *Heliyon*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:269600

Orphanet

European rare disease database

Orphanet:158029

GARD

Genetic and Rare Diseases Info Center

GARD:8241

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?

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sea-blue histiocyte syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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