Partial oculocutaneous albinism with immunodeficiency and giant lysosomes.
- Specialty
- Dermatology
- Subspecialty
- Dermatology / Pigmentary disorders
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, infancy onset
- Gene(s) involved
- LYST
- Alternative names & eponyms
- CHS
Etiology & mechanism
Defective lysosomal trafficking regulator.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Chédiak–Higashi syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Chediak–Higashi syndrome
neuropathy, recurrent infections
2 shared
Griscelli syndrome
hypopigmentation, silvery hair
1 shared
Abetalipoproteinemia
neuropathy
1 shared
Adie tonic pupil syndrome
photophobia
1 shared
Alström syndrome
photophobia
1 shared
Bare lymphocyte syndrome
recurrent infections
1 shared
Barth syndrome
recurrent infections
1 shared
Chorea-acanthocytosis
neuropathy
1 shared
Churg–Strauss syndrome
neuropathy
1 shared
Cross syndrome
hypopigmentation
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