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ORPHA:2614

Nail-patella syndrome

medium confidenceDisorder

Also known as: Onychoosteodysplasia · Turner-Kieser syndrome

Publications

7,853

95th percentile

Trials

0

Interventional, condition-specific

Researchers

1,022

Distinct authors in sample

Gene link

LMX1B

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 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 — LMX1B

  2. LiteraturePresent

    7,853 matched papers (5,478 in last 10 years) Source

  3. Phenotype characterisedPresent

    116 HPO annotations (e.g. Abnormal nail morphology; Abnormal digit morphology; Abnormality of the kidney) Source

  4. Animal modelPresent

    5 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name 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 (LMX1B).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

116

Associated phenotypes · MONDO:0008061

  • Abnormal nail morphology
  • Abnormal digit morphology
  • Abnormality of the kidney
  • Constipation
  • Decreased muscle mass

Showing 5 of 116 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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?

7,853

7,853 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=3967) is 59.

7,853 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).

5,478 in the last 10 years · medium confidence · 95th percentile (publications denominator)

Phrase hits: 5,637 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Mori T4 papers · 2025

    Department of Otolaryngology-Head and Neck Surgery, Tohoku University Graduate School of Medicine, Japan.

    Papers in Europe PMC
  2. 02
    Petit F4 papers · 2026

    Univ. Lille, EA7364 RADEME, Lille, France.

    Papers in Europe PMC
  3. 03
    Ros MA4 papers · 2026

    Instituto de Biotecnología y Biomedicina de Cantabria (IBBTEC), CSIC-SODERCAN-University of Cantabria, Santander, Spain.

    Papers in Europe PMC
  4. 04
    Chen W3 papers · 2026

    Department of Acupuncture and Rehabilitation, Dazu District Hospital of Traditional Chinese Medicine, Chongqing, China.

    Papers in Europe PMC
  5. 05
    Escande F3 papers · 2026

    EA7364 RADEME, Université de Lille, F-59000, Lille, France.

    Papers in Europe PMC
  6. 06
    Isojima 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
  7. 07
    Kitanaka 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
  8. 08
    Manouvrier-Hanu S3 papers · 2021

    Clinique de Génétique, CHU Lille, F-59000, Lille, France.

    Papers in Europe PMC
  9. 09
    Nozu K3 papers · 2024

    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

    Papers in Europe PMC
  10. 10
    Oberg 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 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.

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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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 Nail-patella syndrome — 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.

("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" OR "LMX1B syndrome" OR "LMX1B-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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