Obesity due to prohormone convertase I deficiency

Orpha code: 71528OMIM code: 600955

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.

Disease data
Classification

Etiological subtype

Synonyms
PCI deficiency
Niedobór PCI
ORPHA code
71528
OMIM code
600955
ICD10 code
E66.8
ICD11 code
-

No additional description.

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