attenuated Chédiak-Higashi syndrome
Findings
No curated finding names attenuated Chédiak-Higashi syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018133), read 2026-09-29. CC BY 4.0.
Features
15 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.
- Abnormality of coagulationHPOHP:0001928
- Very frequent (80% to 99% of cases)
- Bruising susceptibilityHPOHP:0000978
- Very frequent (80% to 99% of cases)
- EpistaxisHPOHP:0000421
- Very frequent (80% to 99% of cases)
- Generalized hypopigmentationHPOHP:0007513
- Very frequent (80% to 99% of cases)
- Gingival bleedingHPOHP:0000225
- Very frequent (80% to 99% of cases)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Ocular albinismHPOHP:0001107
- Very frequent (80% to 99% of cases)
- Peripheral neuropathyHPOHP:0009830
- Very frequent (80% to 99% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Very frequent (80% to 99% of cases)
- Skin ulcerHPOHP:0200042
- Very frequent (80% to 99% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Occasional (5% to 29% of cases)
Show the remaining 3
- Abnormality of movementHPOHP:0100022
- Occasional (5% to 29% of cases)
- HypertoniaHPOHP:0001276
- Occasional (5% to 29% of cases)
- IncoordinationHPOHP:0002311
- Occasional (5% to 29% of cases)
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
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: attenuated Chédiak-Higashi syndrome
- Also called
- attenuated Chediak-Higashi syndromeatypical Chediak-Higashi syndromeatypical Chédiak-Higashi syndrome