ORPHA:2614
Nail-patella syndrome
Also known as: Onychoosteodysplasia · Turner-Kieser syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
5,637
97.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,022
Distinct authors in sample
Gene link
LMX1B
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow , and the presence of iliac horns as well as renal and ocular anomalies.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008061
- MeSH:D009261
- OMIM:161200
- UMLS:C0027341
- NCIT:C75120
Additional Mondo synonyms (8)
Fong disease · NPS 1 · NPS1 · Nail Patella Syndrome · hereditary Osteo-onychodysplasia · nail-patella syndrome · onychoosteodysplasia · osteo-onychodysplasia
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 — LMX1B
- LiteraturePresent
5,637 matched papers (4,140 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 (LMX1B).
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?
5,637
5,637 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
5,637 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).
4,140 in the last 10 years · medium confidence · 97.1th percentile (publications denominator)
Phrase hits: 5,637 · MeSH hits: 0
Who's working on it?
1,022
Distinct author names in 200 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.
- 01Mori T4 papers · 2025
Department of Otolaryngology-Head and Neck Surgery, Tohoku University Graduate School of Medicine, Japan.
Papers in Europe PMC - 02
- 03Ros MA4 papers · 2026
Instituto de Biotecnología y Biomedicina de Cantabria (IBBTEC), CSIC-SODERCAN-University of Cantabria, Santander, Spain.
Papers in Europe PMC - 04Chen W3 papers · 2026
Department of Acupuncture and Rehabilitation, Dazu District Hospital of Traditional Chinese Medicine, Chongqing, China.
Papers in Europe PMC - 05Escande F3 papers · 2026
EA7364 RADEME, Université de Lille, F-59000, Lille, France.
Papers in Europe PMC - 06Isojima T3 papers · 2020
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
Papers in Europe PMC - 07Kitanaka S3 papers · 2020
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
Papers in Europe PMC - 08Manouvrier-Hanu S3 papers · 2021
Clinique de Génétique, CHU Lille, F-59000, Lille, France.
Papers in Europe PMC - 09Nozu K3 papers · 2024
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC - 10Oberg KC3 papers · 2024
Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA, USA. koberg@llu.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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
Observational and natural-history studies
2 observational studies match 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
- NCT06065852·RECRUITING·National Registry of Rare Kidney Diseases
Conditions: Adenine Phosphoribosyltransferase Deficiency · AH Amyloidosis · AHL Amyloidosis · AL Amyloidosis·Matched via name phrase
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.
"Nail-patella syndrome" OR "Onychoosteodysplasia" OR "Turner-Kieser syndrome" OR "Fong disease" OR "NPS 1" OR "Nail Patella Syndrome" OR "hereditary Osteo-onychodysplasia" OR "osteo-onychodysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Nail-patella syndrome" OR "Onychoosteodysplasia" OR "Turner-Kieser syndrome" OR "Fong disease" OR "NPS 1" OR "Nail Patella Syndrome" OR "hereditary Osteo-onychodysplasia" OR "osteo-onychodysplasia" OR "LMX1B"
Recall-expansion terms: LMX1B
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: NPS1
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
Ingested 2026-07-26T20:41:24.772Z