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

attenuated Chédiak-Higashi syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

attenuated Chédiak-Higashi syndrome

MONDO:0018133

Also known as:attenuated Chediak-Higashi syndromeatypical Chediak-Higashi syndromeatypical Chédiak-Higashi syndrome

Overview

Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.

ResearchLimited published research (2 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 attenuated Chédiak-Higashi syndrome.

2 publications have been identified in PubMed for attenuated Chédiak-Higashi syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Amri Y (2025). [PMID: 40426172](https://pubmed.ncbi.nlm.nih.gov/40426172/). *BMC Med Genomics*. [Case Report / Case Series]
Kundavaram R (2024). [PMID: 39881889](https://pubmed.ncbi.nlm.nih.gov/39881889/). *Cureus*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:352723

GARD

Genetic and Rare Diseases Info Center

GARD:21527

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

attenuated Chédiak-Higashi syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team