Prohormone Convertase 1 Deficiency

**Semantic type:** Finding

**Definition:** Deficiency or dysfunction of the enzyme prohormone convertase 1 associated with loss-of-function mutation(s) in the PCSK1 gene.

**Synonyms:** - PCSK1 Deficiency - PCSK1 Deficiency - Prohormone Convertase 1/3 Deficiency