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obesity due to prohormone convertase I deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

obesity due to prohormone convertase I deficiency

MONDO:0010961

Also known as:PCI deficiencyPCSK1 Deficiencyobesity with impaired prohormone processing

Overview

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.

GeneticsAutosomal recessive · PCSK1 (chr 5)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Hypoinsulinemia, and Elevated circulating proinsulin concentration and others; and very common findings: Excessive hunger (polyphagia). 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	7	Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Primary amenorrhea

Genetic Landscape

PCSK1 function has not been fully characterized.

Obesity due to prohormone convertase I deficiency is associated with mutations in the PCSK1 gene on chromosome 5.

Diagnosis

Genetic testing for PCSK1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 1 very common feature, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for obesity due to prohormone convertase I deficiency.

44 publications have been identified in PubMed for obesity due to prohormone convertase I deficiency. Research spans Basic Science / Preclinical (39%), Case Report / Case Series (23%), and Clinical Trial Publication (20%).

Research Type	Count	% of Total
Laboratory research	17	39%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600955

Orphanet

European rare disease database

Orphanet:71528

GARD

Genetic and Rare Diseases Info Center

GARD:16689

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

obesity due to prohormone convertase I deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

obesity due to prohormone convertase I deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications