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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
  • ICD-11: 5B81.Y
  • OMIM: 600955
  • UMLS: C4302878
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Italiano (2007) Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

Detailed information

Guidelines

Genetic Testing

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

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.