Disease-gene associations mined from literature

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,  PCI deficiency,  obesity and endocrinopathy due to impaired processing of prohormones,  obesity due to prohormone convertase I deficiency ...