ORPHA:85453
X-linked reticulate pigmentary disorder
Also known as: XLPDR · Familial cutaneous amyloidosis · PDR · Partington disease · X-linked cutaneous amyloidosis
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,769
Trials
0
Interventional, condition-specific
Researchers
556
Distinct authors in sample
Gene link
POLA1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, , hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010523
- MeSH:C564461
- OMIM:301220
- UMLS:C1845050
Additional Mondo synonyms (2)
familial cutaneous amyloidosis · pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive
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.”
3/6 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
Strong — POLA1
- LiteraturePresent
1,769 matched papers (1,132 in last 10 years) Source
- Phenotype characterisedPresent
26 HPO annotations (e.g. Frontal upsweep of hair; Clubbing; Visual impairment) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (POLA1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
26
Associated phenotypes · MONDO:0010523
- Frontal upsweep of hair
- Clubbing
- Visual impairment
- Failure to thrive in infancy
- Cutaneous amyloidosis
Showing 5 of 26 — 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?
1,769
1,769 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.
1,769 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).
1,132 in the last 10 years · low confidence
Phrase hits: 99 · MeSH hits: 0
Who's working on it?
556
Distinct author names in 99 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.
- 01Burstein E6 papers · 2021
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390 Texas, USA.
Papers in Europe PMC - 02Starokadomskyy P5 papers · 2021
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Papers in Europe PMC - 03Zinn AR5 papers · 2019
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Papers in Europe PMC - 04Meyts I4 papers · 2025
Department of Immunology and Microbiology, Laboratory for Inborn Errors of Immunity, Department of Pediatrics, University Hospitals Leuven, and KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 05Picard C4 papers · 2025
Center for the Study of Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
Papers in Europe PMC - 06Tangye SG4 papers · 2025
Immunology Division, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
Papers in Europe PMC - 07Casanova JL3 papers · 2020
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Papers in Europe PMC - 08Crow YJ3 papers · 2022
Laboratory of Neuroinflammation and Neurogenetics, Necker Branch, INSERM UMR1163, Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France.
Papers in Europe PMC - 09Cunningham-Rundles C3 papers · 2025
Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, NewYork, NY, USA.
Papers in Europe PMC - 10Fraile G3 papers · 2016
Department of Internal Medicine, Ramón y Cajal University Hospital, Madrid, Spain. gfrailer@hotmail.com
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 X-linked reticulate pigmentary disorder — check Associations / patient organisations on that page.
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.
("X-linked reticulate pigmentary disorder" OR "XLPDR" OR "Familial cutaneous amyloidosis" OR "Partington disease" OR "X-linked cutaneous amyloidosis" OR "pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive") OR (MESH:"Pigmentary Disorder, Reticulate, with Systemic Manifestations") OR ("POLA1" OR "POLA1 syndrome" OR "POLA1-related")MeSH descriptor terms unioned into the query: Pigmentary Disorder, Reticulate, with Systemic Manifestations
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked reticulate pigmentary disorder" OR "XLPDR" OR "Familial cutaneous amyloidosis" OR "Partington disease" OR "X-linked cutaneous amyloidosis" OR "pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive" OR "Pigmentary Disorder, Reticulate, with Systemic Manifestations"
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
Synonyms dropped by stoplist: PDR
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (1769) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T03:04:01.603Z