Human genes for proprotein convertase 1/3 deficiency
Proprotein convertase 1/3 deficiency [DOID:0111698]
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 PCSK1 on chromosome 5q15.
Synonyms: proprotein convertase 1/3 deficiency, DOID:0111698, obesity and endocrinopathy due to impaired processing of prohormones, obesity due to prohormone convertase I deficiency, obesity with impaired prohormone processing ...