proprotein convertase 1/3 deficiency (DOID:0111698)
Alliance: disease page
Synonyms: obesity and endocrinopathy due to impaired processing of prohormones; obesity due to prohormone convertase I deficiency; obesity with impaired prohormone processing; PCI deficiency
Alt IDs: OMIM:600955, MESH:C563423, ORDO:71528, UMLS_CUI:C1833053
Definition: A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15.