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ORPHA:221046

Poikiloderma with neutropenia

medium confidenceDisorder

Also known as: Poikiloderma with neutropenia, Clericuzio type

Publications

475

80th percentile

Trials

0

Interventional, condition-specific

Researchers

990

Distinct authors in sample

Gene link

USB1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Poikiloderma with neutropenia is a rare, genetic poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or are additional reported features.

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 (2)

poikiloderma with neutropenia · poikiloderma with neutropenia, Clericuzio type

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — USB1

  2. LiteraturePresent

    475 matched papers (371 in last 10 years) Source

  3. Phenotype characterisedPresent

    39 HPO annotations (e.g. Elevated circulating creatine kinase activity; Increased circulating lactate dehydrogenase concentration; Recurrent pneumonia) Source

  4. Animal modelPresent

    3 genotype models (Danio rerio) Source

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 328 for broader category neutropenia

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 (USB1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

39

Associated phenotypes · MONDO:0011405

  • Elevated circulating creatine kinase activity
  • Increased circulating lactate dehydrogenase concentration
  • Recurrent pneumonia
  • Reticular hyperpigmentation
  • Poikiloderma

Showing 5 of 39 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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?

475

475 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.

475 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).

371 in the last 10 years · medium confidence · 80th percentile (publications denominator)

Phrase hits: 162 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

990

Distinct author names in 162 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Larizza L13 papers · 2024

    Department of Medicine, Surgery and Dentistry, University of Milan, Italy. lidia.larizza@unimi.it

    Papers in Europe PMC
  2. 02
    Colombo EA9 papers · 2019

    Dipartimento di Scienze della Salute, Università degli Studi di Milano, Via Antonio di Rudinì 8, 20142, Milan, Italy. elisaadele.colombo@unimi.it.

    Papers in Europe PMC
  3. 03
    Cunningham-Rundles C6 papers · 2025

    Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.

    Papers in Europe PMC
  4. 04
    Klein C6 papers · 2025

    Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.

    Papers in Europe PMC
  5. 05
    Picard C6 papers · 2026

    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.

    Papers in Europe PMC
  6. 06
    Volpi L6 papers · 2016

    Dipartimento di Biotecnologie Mediche e di Medicina Traslazionale, Università degli Studi di Milano, Via Viotti 3/5, 20133, Milan, Italy.

    Papers in Europe PMC
  7. 07
    Al-Herz W5 papers · 2020

    Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.

    Papers in Europe PMC
  8. 08
    Bousfiha A5 papers · 2020

    Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.

    Papers in Europe PMC
  9. 09
    Casanova JL5 papers · 2020

    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.

    Papers in Europe PMC
  10. 10
    Etzioni A5 papers · 2020

    Meyer Children's Hospital-Technion, Haifa, Israel.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 328 trials are registered for neutropenia, the broader category — shown separately because they may or may not enrol this specific subtype.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

328 interventional trials matched neutropenia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: neutropenia

328

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Poikiloderma with neutropenia — 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.

("Poikiloderma with neutropenia" OR "Poikiloderma with neutropenia, Clericuzio type") OR ("USB1" OR "USB1 syndrome" OR "USB1-related")

Run this search on Europe PMC

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

"Poikiloderma with neutropenia" OR "Poikiloderma with neutropenia, Clericuzio type"

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

Parent-category trials query:

"neutropenia"

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

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 (475) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T09:55:15.786Z