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Obesity due to prohormone convertase I deficiency

Disease definition

A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients.

ORPHA:71528

Classification level: Subtype of disorder
  • Synonym(s):
    • PCI deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E66.8
  • OMIM: 600955
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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