Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111698 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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