Chediak-Higashi syndrome

disorder

SNOMED 111396008CUI C0007965

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Chediak-Higashi Syndrome" from the MEDLINE/PubMed database.

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Oral manifestations of Chediak-Higashi syndrome: A systematic review.

[object Object], [object Object], [object Object] et al. · Dis Mon · 2023

PMID: 35414415Meta-Analysis

VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?

[object Object], [object Object], [object Object] et al. · Cell Mol Biol Lett · 2025

PMID: 39865233ReviewFull text (PMC)

Spectrum ofmutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.

[object Object], [object Object], [object Object] et al. · J Med Genet · 2024

PMID: 37788905ReviewFull text (PMC)

Chedíak-Higashi Syndrome: Hair-to-toe spectrum.

[object Object], [object Object], [object Object] et al. · Semin Pediatr Neurol · 2024

PMID: 39622608ReviewFull text (PMC)

The lysosomal trafficking regulator "LYST": an 80-year traffic jam.

[object Object], [object Object], [object Object] et al. · Front Immunol · 2024

PMID: 38774881ReviewFull text (PMC)

Chediak-Higashi syndrome.

[object Object], [object Object], [object Object] · Curr Opin Hematol · 2023

PMID: 37254856ReviewFull text (PMC)

Neutrophil phenotypes in chronic lung disease.

[object Object], [object Object], [object Object] · Expert Rev Respir Med · 2019

PMID: 31394045Review

[Hypomelanoses transmitted from generation to generation].

[object Object], [object Object], [object Object] et al. · Postepy Hig Med Dosw (Online) · 2014

PMID: 25228517Review

Towards the targeted management of Chediak-Higashi syndrome.

[object Object], [object Object], [object Object] et al. · Orphanet J Rare Dis · 2014

PMID: 25129365ReviewFull text (PMC)

Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.

[object Object], [object Object] · Exp Cell Res · 2013

PMID: 23810987ReviewFull text (PMC)

Search all PubMed articles for Chediak-Higashi syndrome

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Giant neutrophil granules

Always present (100%)HP:0032499

Silver-gray hair

Always present (100%)HP:0002218

Abnormality of leukocytes

Very frequent (80-99%)HP:0001881

Abnormality of multiple cell lineages in the bone marrow

Very frequent (80-99%)HP:0012145

Albinism, Ocular

Very frequent (80-99%)HP:0001107

Enlarged lysosomal vacuoles in lymphocytes

Very frequent (80-99%)HP:0001922

Hemophagocytosis

Very frequent (80-99%)HP:0012156

Hypopigmentation of the skin

Very frequent (80-99%)HP:0001010

Increased proportion of CD25+ mast cells

Very frequent (80-99%)HP:0031408

Prone to bacterial infection

Very frequent (80-99%)HP:0002718

Susceptibility to infection

Very frequent (80-99%)HP:0002719

Abnormal platelet function

Frequent (30-79%)HP:0011869

Abnormality of natural killer cells

Frequent (30-79%)HP:0012176

Abnormality of neutrophil physiology

Frequent (30-79%)HP:0011990

Abnormality of RPE

Frequent (30-79%)HP:0007703

Bleeding tendency

Frequent (30-79%)HP:0001892

Bruising susceptibility

Frequent (30-79%)HP:0000978

Cutaneous photosensitivity

Frequent (30-79%)HP:0000992

Decreased visual acuity

Frequent (30-79%)HP:0007663

Enlarged liver

Frequent (30-79%)HP:0002240

Gum disease

Frequent (30-79%)HP:0000704

Hepatopathy

Frequent (30-79%)HP:0001410

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

Hyperferritinemia

Frequent (30-79%)HP:0003281

Hypopigmentation of hair

Frequent (30-79%)HP:0005599

Immune deficiency

Frequent (30-79%)HP:0002721

Iris hypopigmentation

Frequent (30-79%)HP:0007730

Large clumps of pigment irregularly distributed along hair shaft

Frequent (30-79%)HP:0004527

Large spleen

Frequent (30-79%)HP:0001744

Photophobia

Frequent (30-79%)HP:0000613

Related Conditions

Attenuated Chédiak-Higashi syndrome(child)

Congenital immunodeficiency disease(parent)

Granulocyte granule deficiency(parent)

Chemotactic disorder(parent)

Combined phagocytic defect(parent)

Dense body defect(parent)

Hereditary white blood cell disorder(parent)

Partial albinism(parent)

Quick Facts

SNOMED CT: 111396008
UMLS CUI: C0007965
Fully Specified Name: Chédiak-Higashi syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.