ORPHA:86819
Atrichia with papular lesions
Also known as: Papular atrichia
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
144
49.6th percentile
Trials
0
Interventional, condition-specific
Researchers
638
Distinct authors in sample
Gene link
HR
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008847
- MeSH:C565924
- OMIM:209500
- UMLS:C1859592
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — HR
- LiteraturePresent
144 matched papers (40 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
144
144 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=5449) is 41.
144 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
40 in the last 10 years · high confidence · 49.6th percentile (publications denominator)
Phrase hits: 144 · MeSH hits: 0
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.
- 01Christiano AM31 papers · 2017
Departments of Dermatology and Genetics &Development, Columbia University, New York, New York, USA.
Papers in Europe PMC - 02Ahmad W12 papers · 2025
Department of Dermatolog, Columbia University, New York, USA.
Papers in Europe PMC - 03Panteleyev AA11 papers · 2003
Department of Dermatology,* Charité, Humboldt-University, Berlin, Germany University Hospital Eppendorf, University of Hamburg, Hamburg, Germany.
Papers in Europe PMC - 04Martinez-Mir A10 papers · 2008Papers in Europe PMC
- 05Zlotogorski A10 papers · 2008
Departments of Dermatology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel. zloto@cc.huji.ac.il
Papers in Europe PMC - 06Sprecher 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 - 07Sundberg JP9 papers · 2019
Department of Dermatology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Papers in Europe PMC - 08Bergman 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 - 09Feldman D8 papers · 2014
Department of Medicine, Stanford University , Stanford, CA, USA.
Papers in Europe PMC - 10Malloy 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
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" OR "HR"
Recall-expansion terms: HR
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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
Ingested 2026-07-27T03:07:10.132Z