Terminology Service for NFDI4Health
Chédiak-Higashi syndrome
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Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.
Term info
Label
Chédiak-Higashi syndrome
Synonyms
- CHS
- Chediak - Steinbrinck anomaly
- Chediak-Higashi syndrome
- Chédiak-Higashi disease
- Chédiak-Higashi-Steinbrink syndrome
definition citation
orphanet
term editor
Gautier Koscielny
Term relations
Subclass of:
- Immunodeficiency syndrome with hypopigmentation
- Genetic hypopigmentation of the skin
- Pigmentation disorder with eye involvement
- Genetic immune deficiency with skin involvement
- Rare hereditary disease with peripheral neuropathy
- Platelet storage pool disease
- inborn errors of metabolism
- Constitutional neutropenia with extra-haematopoietic manifestations
- Genetic neurodegenerative disease
- realized in some (
disease course and
has_part some metabolic process)