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Cholesterol-ester transfer protein deficiency

ORPHA:79506

Classification level: Disorder
  • Synonym(s):
    • CEPT deficiency
    • Familial hyperalphalipoproteinemia type I
  • Prevalence: -
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E78.4
  • ICD-11: 5C80.3
  • OMIM: 143470
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located at the bottom of this page.

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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