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Attenuated Chédiak-Higashi syndrome
Disease definition
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
ORPHA:352723
Classification level: Disorder- Synonym(s):
- Atypical Chédiak-Higashi syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: E70.3
- OMIM: -
- UMLS: C4304022
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
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.
Clinical description
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.
Etiology
Missense mutations in the LYST lysosomal trafficking regulator gene (1q42.1-q42.2) appear to cause this form of CHS.
Genetic counseling
Attenuated Chédiak-Higashi syndrome is inherited in an autosomal recessive manner.
A summary on this disease is available in Español (2014) Nederlands (2014)
Detailed information
Disease review articles
- Clinical genetics review
- English (2018) - GeneReviews
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produced/endorsed by FSMR(s)Additional information