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ORPHA:177904

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

high confidenceSubtype of disorder

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

Publications

8

23.5th percentile

Trials

0

Interventional, condition-specific

Researchers

63

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Prader-Willi Syndrome (Type 2)

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    8 matched papers (7 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 107 for broader category Prader-Willi syndrome

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

8

8 papers have ever been indexed 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.

8 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).

7 in the last 10 years · high confidence · 23.5th percentile (publications denominator)

Phrase hits: 8 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

63

Distinct author names in 8 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
    Vidmar AP3 papers · 2024

    Center for Endocrinology, Diabetes and Metabolism, Diabetes & Obesity Program, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.

    Papers in Europe PMC
  2. 02
    Goran MI2 papers · 2024

    Center for Endocrinology, Diabetes and Metabolism, Diabetes & Obesity Program, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.

    Papers in Europe PMC
  3. 03
    Liu J2 papers · 2019

    Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou 510010, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 510010, China;

    Papers in Europe PMC
  4. 04
    Salvy SJ2 papers · 2024

    Research Center for Health Equity, Cedars-Sinai Medical Center, Department of Medicine, Samuel Oschin Comprehensive Cancer Institute, Los Angeles, CA 90048, USA.

    Papers in Europe PMC
  5. 05
    Wee CP2 papers · 2023

    Department of Population and Public Health Sciences, Keck School of Medicine, Southern California Clinical and Translational Science Institute (SC-CTSI), Los Angeles, CA 90007, USA.

    Papers in Europe PMC
  6. 06
    Zhang L2 papers · 2020

    Clinical Laboratory of Henan Women and Children Hospital and Institute, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

    Papers in Europe PMC
  7. 07
    Ahima R1 paper · 2026

    Department of Medicine, Division of Endocrinology, Diabetes, and Metabolism, Johns Hopkins University, Baltimore, MD 21218, USA;

    Papers in Europe PMC
  8. 08
    Ai M1 paper · 2015

    Institute for Genomic Medicine and Shiley Eye Institute, University of California, San Diego, La Jolla, CA 92328;

    Papers in Europe PMC
  9. 09
    Asamoah A1 paper · 2026

    Norton Children’s Medical Group Genetics Division, University of Louisville, Louisville, KY 40202, USA

    Papers in Europe PMC
  10. 10
    Bakhsh JA1 paper · 2024

    Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.

    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). 107 trials are registered for Prader-Willi syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

107 interventional trials matched Prader-Willi syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Prader-Willi syndrome

107

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2026-07-26

Likely covered — the policy lists Prader-Willi syndrome as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2" OR "Prader-Willi Syndrome (Type 2)"

Run this search on Europe PMC

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

"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2" OR "Prader-Willi Syndrome (Type 2)" OR "Prader-Willi syndrome due to paternal 15q11q13 deletion" OR "partial deletion of the long arm of chromosome 15"

Recall-expansion terms: Prader-Willi syndrome due to paternal 15q11q13 deletion, partial deletion of the long arm of chromosome 15

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

Parent-category trials query:

"Prader-Willi syndrome"

Query health: suspect — strategies attempted: phrase, 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 2026-07-27T08:45:44.378Z