OBO ID: DOID:0111698
Term Name: proprotein convertase 1/3 deficiency Search Ontology:
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 PCSK1 on chromosome 5q15. (3)
References:
Ontology: Human Disease   (DOID:0111698)
OTHER proprotein convertase 1/3 deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PCSK1 Endocrinopathy due to proprotein convertase 1/3 deficiency 600955
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None