Chediak-Higashi syndrome
Findings
No curated finding names Chediak-Higashi syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.
Definition from the Mondo Disease Ontology (MONDO:0008963), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Young adult onset
HPO, annotations 2026-09-02
Features
87 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnemiaHPOHP:0001903
- 11 of 11 reported patients
- Occasional (5% to 29% of cases)
- Giant neutrophil granulesHPOHP:0032499
- 11 of 11 reported patients
- Hypopigmentation of hairHPOHP:0005599
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Silver-gray hairHPOHP:0002218
- 4 of 4 reported patients
- Ocular albinismHPOHP:0001107
- 8 of 9 reported patients
Show the remaining 75
- Vacuolated lymphocytesHPOHP:0001922
- Very frequent (80% to 99% of cases)
- Recurrent bacterial skin infectionsHPOHP:0005406
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- Abnormal bleedingHPOHP:0001892
- Frequent (30% to 79% of cases)
- Abnormal natural killer cell morphologyHPOHP:0012176
- Frequent (30% to 79% of cases)
- Abnormal neutrophil physiologyHPOHP:0011990
- Frequent (30% to 79% of cases)
- Abnormal platelet functionHPOHP:0011869
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LYSTHGNC:1968
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: Chediak-Higashi syndrome
- Also called
- ChC)diak-Higashi diseaseChC)diak-Higashi-Steinbrink syndromeChediak Higashi SyndromeChédiak-Higashi diseaseChédiak-Higashi syndromeChédiak-Higashi-Steinbrink syndromeCHS