obesity due to prohormone convertase I deficiency
Findings
No curated finding names obesity due to prohormone convertase I deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.
Definition from the Mondo Disease Ontology (MONDO:0010961), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating cortisol levelHPOHP:0008163
- 1 of 1 reported patient
- Elevated circulating proinsulin concentrationHPOHP:6000419
- 1 of 1 reported patient
- Hypogonadotropic hypogonadismHPOHP:0000044
- 1 of 1 reported patient
- HypoinsulinemiaHPOHP:0040216
- 1 of 1 reported patient
- Increased adipose tissueHPOHP:0009126
- Obligate (100% of cases)
- ObesityHPOHP:0001513
- 1 of 1 reported patient
- Obligate (100% of cases)
- Polyphagia
Show the remaining 10
- Acanthosis nigricansHPOHP:0000956
- Occasional (5% to 29% of cases)
- Decreased response to growth hormone stimulation testHPOHP:0000824
- Occasional (5% to 29% of cases)
- Delayed pubertyHPOHP:0000823
- Occasional (5% to 29% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
- Gonadotropin deficiencyHPOHP:0008213
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PCSK1HGNC:8743
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: obesity due to prohormone convertase I deficiency
- Also called
- PCI deficiencyPCSK1 Deficiency