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ORPHA:722

Hypoplasminogenemia

medium confidenceDisorder

Also known as: Plasminogen deficiency type 1

Publications

169

56.3th percentile

Trials

2

Interventional, condition-specific

Researchers

916

Distinct authors in sample

Gene link

PLG

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

hypoplasminogenemia · plasminogen deficiency type 1 · plasminogen deficiency, type 1 · plasminogen deficiency, type I · type 1 plasminogen 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 — PLG

  2. LiteraturePresent

    169 matched papers (95 in last 10 years) Source

  3. Phenotype characterisedPresent

    34 HPO annotations (e.g. Nephritis; Hydrocephalus; Ventriculomegaly) 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 (PLG).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

34

Associated phenotypes · MONDO:0009009

  • Nephritis
  • Hydrocephalus
  • Ventriculomegaly
  • Gingivitis
  • Generalized hypotonia

Showing 5 of 34 — 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

1

Drugs / clinical candidates · MONDO_0009009

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

169

169 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

169 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).

95 in the last 10 years · medium confidence · 56.3th percentile (publications denominator)

Phrase hits: 160 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

916

Distinct author names in 160 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
    Schuster V9 papers · 2013

    Hospital for Children and Adolescents, Medical Faculty of Leipzig University, Liebigstrasse 20a, Leipzig, Germany. volker.schuster@medizin.uni-leipzig.de

    Papers in Europe PMC
  2. 02
    Tefs K9 papers · 2013

    Children's Hospital, University of Leipzig, Germany.

    Papers in Europe PMC
  3. 03
    Nakar C8 papers · 2026

    Indiana Hemophilia & Thrombosis Center, Indianapolis, IN, USA.

    Papers in Europe PMC
  4. 04
    Shapiro AD8 papers · 2026

    Indiana Hemophilia & Thrombosis Center, Indianapolis, IN, USA ashapiro@IHTC.org.

    Papers in Europe PMC
  5. 05
    Thibaudeau K7 papers · 2026

    Prometic Life Sciences, Laval, QC, Canada; and.

    Papers in Europe PMC
  6. 06
    Girolami A6 papers · 2003

    IV Chair of Internal Medicine, University of Padua Medical School, Italy.

    Papers in Europe PMC
  7. 07
    Parker JM6 papers · 2026

    Prometic Biotherapeutics Inc., Rockville, MD.

    Papers in Europe PMC
  8. 08
    Hügle B5 papers · 2011
    Papers in Europe PMC
  9. 09
    Patrassi GM5 papers · 2000

    Institute of Medical Semeiotics, University of Padua Medical School, Italy.

    Papers in Europe PMC
  10. 10
    Sartori MT5 papers · 2000

    Department of Medical and Surgical Sciences, University of Padua Medical School, Italy.

    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).

medium 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.

Recruiting or not-yet-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 65 · after dedupe 64 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 64 · dropped 0 · fetched 2026-07-29

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 (64)

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 Hypoplasminogenemia — 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.

("Hypoplasminogenemia" OR "Plasminogen deficiency type 1" OR "plasminogen deficiency, type 1" OR "plasminogen deficiency, type I" OR "type 1 plasminogen deficiency") OR ("PLG syndrome" OR "PLG-related")

Run this search on Europe PMC

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

"Hypoplasminogenemia" OR "Plasminogen deficiency type 1" OR "plasminogen deficiency, type 1" OR "plasminogen deficiency, type I" OR "type 1 plasminogen 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 · 2 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:02:39.115Z