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ORPHA:86819

Atrichia with papular lesions

low confidenceDisorder

Also known as: Papular atrichia

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2,092

Trials

0

Interventional, condition-specific

Researchers

638

Distinct authors in sample

Gene link

HR

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare inherited form of alopecia characterized by irreversible hair loss during the period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

atrichia with papular lesions · papular atrichia

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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — HR

  2. LiteraturePresent

    2,092 matched papers (1,619 in last 10 years) Source

  3. Phenotype characterisedPresent

    2 HPO annotations (e.g. Generalized papillary lesions; Sparse hair) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. Tamibarotene Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (HR).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

2

Associated phenotypes · MONDO:0008847

  • Generalized papillary lesions
  • Sparse hair

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA TamibaroteneAcute Promyelocytic Leukemia APL · 2007-10-11 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

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?

2,092

2,092 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.

2,092 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).

1,619 in the last 10 years · low confidence

Phrase hits: 144 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

638

Distinct author names in 144 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
    Christiano AM31 papers · 2017

    Departments of Dermatology and Genetics &Development, Columbia University, New York, New York, USA.

    Papers in Europe PMC
  2. 02
    Ahmad W12 papers · 2025

    Department of Dermatolog, Columbia University, New York, USA.

    Papers in Europe PMC
  3. 03
    Panteleyev AA11 papers · 2003

    Department of Dermatology,* Charité, Humboldt-University, Berlin, Germany University Hospital Eppendorf, University of Hamburg, Hamburg, Germany.

    Papers in Europe PMC
  4. 04
    Martinez-Mir A10 papers · 2008
    Papers in Europe PMC
  5. 05
    Zlotogorski A10 papers · 2008

    Departments of Dermatology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel. zloto@cc.huji.ac.il

    Papers in Europe PMC
  6. 06
    Sprecher E9 papers · 2020

    Department of Genetics, Tamkin Human Molecular Genetics Research Facility, Technion-Israel Institute of Technology, Bruce Rappaport Faculty of Medicine, Haifa, Israel.

    Papers in Europe PMC
  7. 07
    Sundberg JP9 papers · 2019

    Department of Dermatology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

    Papers in Europe PMC
  8. 08
    Bergman R8 papers · 2008

    Department of Dermatology, Rambam Medical Center, Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa, Israel. r_bergman@Rambam.health.gov.il

    Papers in Europe PMC
  9. 09
    Feldman D8 papers · 2014

    Department of Medicine, Stanford University , Stanford, CA, USA.

    Papers in Europe PMC
  10. 10
    Malloy PJ7 papers · 2011

    Division of Endocrinology, Gerontology and Metabolism, Department of Medicine, Stanford University School of Medicine, Stanford University Medical Center, Stanford, CA 94305, USA. malloy@cmgm.stanford.edu

    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).

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.

low 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Atrichia with papular lesions — 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.

("Atrichia with papular lesions" OR "Papular atrichia") OR (MESH:"Atrichia with Papular Lesions") OR ("HR syndrome" OR "HR-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Atrichia with Papular Lesions

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

"Atrichia with papular lesions" OR "Papular atrichia"

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

Query health: suspect — strategies attempted: phrase, mesh; 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 (2092) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:07:10.132Z