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ORPHA:71528

Obesity due to prohormone convertase I deficiency

low confidenceSubtype of disorder

Also known as: PCI deficiency

Publications

2,762

Trials

2

Interventional, condition-specific

Researchers

679

Distinct authors in sample

Gene link

PCSK1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

PCSK1 Deficiency

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — PCSK1

  2. LiteraturePresent

    2,762 matched papers (2,014 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Diarrhea; Hypogonadotropic hypogonadism; Decreased circulating cortisol level) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (PCSK1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0010961

  • Diarrhea
  • Hypogonadotropic hypogonadism
  • Decreased circulating cortisol level
  • Malabsorption
  • Reactive hypoglycemia

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,762

2,762 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,762 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,014 in the last 10 years · low confidence

Phrase hits: 104 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

679

Distinct author names in 105 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Censani M7 papers · 2025

    Division of Pediatric Endocrinology, Department of Pediatrics, New York Presbyterian Hospital, Weill Cornell Medicine, 525 East 68th Street, Box 103, New York, NY, 10021, USA.

    Papers in Europe PMC
  2. 02
    van den Akker ELT7 papers · 2025

    Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

    Papers in Europe PMC
  3. 03
    Cuda S6 papers · 2025

    Alamo City Healthy Kids and Families, 1919 Oakwell Farms Parkway Ste 145, San Antonio, TX, 78218, USA.

    Papers in Europe PMC
  4. 04
    Lindberg I6 papers · 2022

    Department of Anatomy and Neurobiology, University of Maryland-Baltimore, Baltimore, Maryland.

    Papers in Europe PMC
  5. 05
    van Rossum EFC6 papers · 2025

    Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

    Papers in Europe PMC
  6. 06
    van Haelst MM5 papers · 2025

    Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.

    Papers in Europe PMC
  7. 07
    Browne NT4 papers · 2024

    25 Andrews Avenue, Falmouth, ME, 04105, USA.

    Papers in Europe PMC
  8. 08
    de Groot CJ4 papers · 2025

    Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

    Papers in Europe PMC
  9. 09
    Kharofa R4 papers · 2024

    Department of Pediatrics, University of Cincinnati College of Medicine Center for Better Health & Nutrition, The Heart Institute, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229, USA.

    Papers in Europe PMC
  10. 10
    Kumar S4 papers · 2026

    Division of Pediatric Endocrinology and Metabolism, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, 55905, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (7)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Obesity due to prohormone convertase I deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Obesity due to prohormone convertase I deficiency" OR "PCI deficiency" OR "PCSK1 Deficiency") OR (MESH:"Proprotein Convertase 1 3 Deficiency") OR ("PCSK1" OR "PCSK1 syndrome" OR "PCSK1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Proprotein Convertase 1 3 Deficiency

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Obesity due to prohormone convertase I deficiency" OR "PCI deficiency" OR "PCSK1 Deficiency" OR "Proprotein Convertase 1 3 Deficiency"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2762) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:42:57.341Z