proprotein convertase 1/3 deficiency

Term ID

DOID:0111698

Synonyms

• obesity and endocrinopathy due to impaired processing of prohormones
• obesity due to prohormone convertase I deficiency
• obesity with impaired prohormone processing
• PCI deficiency

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. (3)

References

• MESH:C563423
• OMIM:600955
• ORDO:71528
• UMLS_CUI:C1833053

Ontology

Human Disease   ( DOID:0111698 )