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Hereditary cryohydrocytosis with reduced stomatin

Disease definition

Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

ORPHA:168577

Classification level: Disorder
  • Synonym(s):
    • CHC type 2
    • Hereditary cryohydrocytosis type 2
    • Stomatin-deficient cryohydrocytosis
    • sdCHC
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D58.8
  • OMIM: 608885
  • UMLS: C1837206
  • MeSH: -
  • GARD: -
  • MedDRA: -
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