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letterer-Siwe disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

letterer-Siwe disease

MONDO:0009519

Also known as:acute and disseminated Langerhans cell histiocytosisacute disseminated Langerhans cell histiocytosismultifocal multisystem Langerhans cell histiocytosis

Find Clinical TrialsTrials

Overview

A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.

GeneticsAutosomal recessive

Clinical Trials14 registered · 9 recruiting

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: Encephalopathy, Pulmonary infiltrates, Pallor, and Seborrheic dermatitis and 11 more.

Organ System	Phenotype Count	Example Features
Digestive system	3	Abdominal distention, Hepatosplenomegaly, Jaundice
Blood and immune system

Diagnosis

Biomarker and diagnostic research for letterer-Siwe disease has been reported in the published literature.

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.

14 clinical trials registered, 9 recruiting. Interventions under study include drug therapy, other interventions, procedural interventions, and biologic therapy. Pipeline includes 3 PHASE3, 8 PHASE2. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT04665674](https://clinicaltrials.gov/study/NCT04665674)

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:246400

Orphanet

European rare disease database

Orphanet:99870

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 14 active clinical trials a good fit for my situation?
→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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Research Type	Count	% of Total
Patient case studies	14	56%
Clinical study results	4	16%
Research summaries	3	12%
Testing and diagnosis research	2	8%
Disease patterns and progression	2	8%

Kisho

letterer-Siwe disease

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

letterer-Siwe disease

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications