FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term proprotein convertase 1/3 deficiency ID (Ontology) DOID:0111698 (Human Disease)
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.
Also Known As "obesity and endocrinopathy due to impaired processing of prohormones" ; "obesity due to prohormone convertase I deficiency" ; "obesity with impaired prohormone processing" (for all, see Synonyms field below)
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 Genes
 proprotein convertase 1/3 deficiency       1
 for disease ribbon | proprotein convertase 1/3 deficiency       1
 model of | proprotein convertase 1/3 deficiency       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 proprotein convertase 1/3 deficiency  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "obesity and endocrinopathy due to impaired processing of prohormones" EXACT
    "obesity due to prohormone convertase I deficiency" EXACT
    "obesity with impaired prohormone processing" EXACT
    "PCI deficiency" EXACT
Secondary IDs
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MESH:C563423
MIM:600955
ORDO:71528
UMLS_CUI:C1833053