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familial hemophagocytic lymphohistiocytosis type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial hemophagocytic lymphohistiocytosis type 1

MONDO:0009974

Also known as:familial hemophagocytic lymphohistiocytosisFHL1HLH1

Find Clinical TrialsTrials

Overview

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.

GeneticsAutosomal recessive

Clinical Trials3 registered

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: Hypertonia, Hemiplegia, Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), and Seizure and 33 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Hemiplegia, Seizure, Ataxia
Digestive system

Diagnosis

Biomarker and diagnostic research for familial hemophagocytic lymphohistiocytosis type 1 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.

3 clinical trials registered. Interventions under study include biologic therapy, drug therapy, and gene therapy. Pipeline includes 3 PHASE1. Research is primarily sponsored by academic and government institutions.

196 publications have been identified in PubMed for familial hemophagocytic lymphohistiocytosis type 1. Kisho has analyzed 136 by research type. Research spans Case Report / Case Series (35%), Review / Meta-Analysis (26%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Patient case studies	47

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:267700

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 3 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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Kisho

familial hemophagocytic lymphohistiocytosis type 1

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

familial hemophagocytic lymphohistiocytosis type 1

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications