Obesity due to prohormone convertase I deficiency

Orpha code: 71528OMIM code: 600955

Definicja

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
Klasyfikacja

Etiological subtype

Synonimy
PCI deficiency
Niedobór PCI
Kod ORPHA
71528
Kod OMIM
600955
Kod ICD10
E66.8
Kod ICD11
-

No additional description.

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