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Disease Chediak-Higashi Syndrome

Name Chediak-Higashi Syndrome
Synonyms Chediak Higashi Syndrome | Chediak-Steinbrinck-Higashi Syndrome | CHS | Oculocutaneous Albinism with Leukocyte Defect | Syndrome, Chediak-Higashi
Definition A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
Categories Blood disease | Immune system disease
MeSH® ID D002609
OMIM® ID 214500
External Links

Top ↑ Ancestors

1. DiseasesHemic and Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Hematologic Diseases Has associated chemicals Has associated genes Has associated exposure references Leukocyte Disorders Has associated chemicals Has associated genes Phagocyte Bactericidal Dysfunction Has associated chemicals Has associated genes Chediak-Higashi Syndrome Has associated chemicals Has associated genes
2. DiseasesImmune System Diseases Has associated chemicals Has associated genes Has associated exposure references Immunologic Deficiency Syndromes Has associated chemicals Has associated genes Phagocyte Bactericidal Dysfunction Has associated chemicals Has associated genes Chediak-Higashi Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Chediak-Higashi Syndrome Has associated chemicals Has associated genes
  Aleutian Mink Disease
  Neutropenia and hyperlymphocytosis with large granular lymphocytes