- ... Estimated reading time: 32 minutes Summary Clinical characteristics. Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, ...
- ... gov Catalog of Genes and Diseases from OMIM CHEDIAK-HIGASHI SYNDROME; CHS Scientific Articles on PubMed PubMed References Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb ...
- ... window Gene(s) Disorder MOI Clinical Features LYST Chediak-Higashi syndrome (CHS) AR Significantly ↑ frequency of infection in childhood, partial ...
- ... Hodgkin lymphoma, as opposed to Burkitt lymphoma. LYST Chediak-Higashi syndrome (CHS) AR Partial oculocutaneous albinism, a mild bleeding tendency, & ...
- ... nystagmus Normal hair & skin pigmentation X-linked inheritance Chediak-Higashi syndrome (CHS) LYST AR Infantile nystagmus In CHS: Partial OCA ...
- ... Condition Other Names for This Gene Beige homolog Chediak-Higashi syndrome 1 CHS CHS1 LYST_HUMAN Additional Information & Resources Tests Listed in the Genetic Testing Registry Tests of LYST Scientific Articles on ... Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb ...
- ... relapsing thrombotic thrombocytopenic purpura, see Thrombotic thrombocytopenic purpura CHS, see Chediak-Higashi syndrome CHST3-related skeletal dysplasia CHT, see Congenital hypothyroidism ...
- ... list><synonym-list ><synonym >Beige homolog</synonym><synonym >Chediak-Higashi syndrome 1</synonym><synonym >CHS</synonym><synonym >CHS1</synonym><synonym >LYST_HUMAN</synonym></ ...
- ... gov/genetics/condition/chediak-higashi-syndrome</url><title >Chediak-Higashi syndrome</title><other_names ><other_name >CHS</other_name><other_name >Chediak-Steinbrinck-Higashi syndrome</ ...
- ... s) Pathway Bloom syndrome BLM/RECQL3 Chromosomal stability Chediak-Higashi syndrome LYST Lysosomal transport regulation Dyskeratosis congenita DKC1 , TERC , ...
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