ORPHA:1606
1p36 deletion syndrome
Also known as: Del(1)(p36) · Deletion 1p36 · Deletion 1pter · Monosomy 1p36 · Monosomy 1pter · Subtelomeric 1p36 deletion
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
690
87.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,543
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare chromosomal anomaly characterized by distinctive facial features, , , , , heart defects, poor/absent speech, and onset growth deficiency.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011929
- MeSH:C535362
- OMIM:607872
- UMLS:C1842870
- NCIT:C74983
Additional Mondo synonyms (8)
1p telomere deletion syndrome · 1p36 microdeletion syndrome · chromosome 1p36 deletion syndrome, distal, isolated cases · deletion 1p36 · deletion 1pter · monosomy 1p36 · monosomy 1pter · subtelomeric 1p36 deletion
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
690 matched papers (387 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?
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?
690
690 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=5449) is 41.
690 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).
387 in the last 10 years · high confidence · 87.7th percentile (publications denominator)
Phrase hits: 690 · MeSH hits: 0
Who's working on it?
1,543
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.
- 01Xu L8 papers · 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Gulou District, No. 18 Daoshan Road, Fuzhou, 350001, Fujian, China. Xiliangpu@fjmu.edu.cn.
Papers in Europe PMC - 02Chen X7 papers · 2026
Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Gulou District, No. 18 Daoshan Road, Fuzhou, 350001, Fujian, China.
Papers in Europe PMC - 03Shaffer LG7 papers · 2025
Paw Print Genetics, Genetic Veterinary Sciences, Inc., Spokane, WA 99202, USA.
Papers in Europe PMC - 04Huang H6 papers · 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Papers in Europe PMC - 05Lin N5 papers · 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Papers in Europe PMC - 06Scott DA5 papers · 2026
Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 07Wang Y5 papers · 2026
Prenatal Diagnostic Center, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Papers in Europe PMC - 08Cai M4 papers · 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Papers in Europe PMC - 09Han Y4 papers · 2024
National Center for Clinical Laboratories, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology, PR China; Beijing Engineering Research Center of Laboratory Medicine, Beijing Hospital, PR China.
Papers in Europe PMC - 10Li Y4 papers · 2025
Department of Obstetrics and Gynecology, The First Affiliated Hospital of Air Force Medical University, Xi'an, China.
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. 1 observational study 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.
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.
Observational and natural-history studies
1 observational study matches 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.
None of the matched observational studies is currently listed as recruiting.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"1p36 deletion syndrome" OR "Del(1)(p36)" OR "Deletion 1p36" OR "Deletion 1pter" OR "Monosomy 1p36" OR "Monosomy 1pter" OR "Subtelomeric 1p36 deletion" OR "1p telomere deletion syndrome" OR "1p36 microdeletion syndrome" OR "chromosome 1p36 deletion syndrome, distal, isolated cases"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"1p36 deletion syndrome" OR "Del(1)(p36)" OR "Deletion 1p36" OR "Deletion 1pter" OR "Monosomy 1p36" OR "Monosomy 1pter" OR "Subtelomeric 1p36 deletion" OR "1p telomere deletion syndrome" OR "1p36 microdeletion syndrome" OR "chromosome 1p36 deletion syndrome, distal, isolated cases" OR "partial deletion of the short arm of chromosome 1" OR "partial deletion of chromosome 1"
Recall-expansion terms: partial deletion of the short arm of chromosome 1, partial deletion of chromosome 1
Study-type breakdown: 0 interventional · 1 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
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 2026-07-26T17:49:01.890Z