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Attenuated Chédiak-Higashi syndrome
Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
- Atypical Chédiak-Higashi syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: E70.3
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Fewer than 100 cases have been reported to date but the disorder is likely underdiagnosed. The atypical form may account for 10-15% of CHS patients who do not develop the accelerated phase.
Mild adolescent- or adult-onset attenuated CHS is characterized by subtle or absent oculocutaneous albinism, a characteristic feature of classic CHS, as well as minor to severe infections during childhood but a lower frequency of infections in adolescence and adulthood, mild bleeding manifestations, and progressive neurological findings including intellectual deficit, peripheral neuropathy, parkinsonism, balance abnormalities, and tremor.
Missense mutations in the LYST lysosomal trafficking regulator gene (1q42.1-q42.2) appear to cause this form of CHS.
Attenuated Chédiak-Higashi syndrome is inherited in an autosomal recessive manner.
- Clinical genetics review
- English (2012)