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Chédiak-Higashi syndrome

Synonyms
Chediak-Higashi Syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism, immunodeficiency, and a mild bleeding tendency. Approximately 85% of affected individuals develop the accelerated phase, or hemophagocytic lymphohistiocytosis, a life-threatening, hyperinflammatory condition. All affected individuals including adolescents and adults with atypical CHS and children with classic CHS who have successfully undergone allogenic hematopoietic stem cell transplantation (HSCT) develop neurologic findings during early adulthood. [from GeneReviews]

Available tests

95 tests are in the database for this condition.

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Clinical tests (95 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHS, CHS1, Mauve, LYST
    Summary: lysosomal trafficking regulator

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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