Chédiak-Higashi syndromeImported
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.
Defined byordo
Also appears inpride
Exact Synonyms
Chediak - Steinbrinck anomaly
Chediak-Higashi syndrome
CHS
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
class Information
definition_citation
orphanet
has_dbxref
term editor
Gautier Koscielny
class Relations
Subclass of
- eye degenerative disordermondo
- metabolic disease
- Genetic hypopigmentation of the skinordo
- Genetic immune deficiency with skin involvementordo
- Genetic neurodegenerative diseaseordo
- Rare hereditary disease with peripheral neuropathyordo
- Syndrome with congenital neutropenia as a major featureordo
- Primary hemophagocytic lymphohistiocytosis with hypopigmentationordo
- OBSOLETE: Platelet storage pool diseaseordo
- OBSOLETE: Pigmentation disorder with eye involvementordo
- realized inbfosome(disease courseogmsandhas partbfosomemetabolic processgo)