ORPHA:163693
2p21 microdeletion syndrome
Also known as: 2p21 deletion syndrome · Del(2)(p21) · Monosomy 2p21
Publications
226
68.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,331
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
The 2p21 microdeletion syndrome consists of cystinuria, , , severe growthand , facial dysmorphism, and lactic acidemia.
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:0015583
- UMLS:C4304537
Additional Mondo synonyms (1)
monosomy 2p21
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
226 matched papers (116 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?
226
226 papers have ever been published on this condition (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.
226 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).
116 in the last 10 years · medium confidence · 68.9th percentile (publications denominator)
Phrase hits: 226 · MeSH hits: 0
Who's working on it?
1,331
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.
- 01Meulemans S10 papers · 2024
Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, ON1 Herestraat 49 - b 607, 3000, Belgium
Papers in Europe PMC - 02Creemers JW9 papers · 2024
Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, ON1 Herestraat 49 - b 607, 3000, Belgium
Papers in Europe PMC - 03Jaeken J7 papers · 2012
Department of Paediatrics, University Hospitals Leuven, Belgium.
Papers in Europe PMC - 04Martens K6 papers · 2009
Laboratory for Biochemical Neuro-endocrinology, Department for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, Gent, Belgium
Papers in Europe PMC - 05Matthijs G6 papers · 2009Papers in Europe PMC
- 06Wang Y5 papers · 2026
Department of Hematology, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China.
Papers in Europe PMC - 07Creemers J4 papers · 2014
Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 08Eggermann T4 papers · 2018
Institut für Humangenetik, RWTH Aachen, Aachen, Germany. teggermann@ukaachen.de
Papers in Europe PMC - 09Parvari R4 papers · 2015
Department of Developmental Molecular Genetics, Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel. ruthi@bgumail.bgu.ac.il
Papers in Europe PMC - 10Régal L4 papers · 2021
Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium.
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 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.
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.
"2p21 microdeletion syndrome" OR "2p21 deletion syndrome" OR "Del(2)(p21)" OR "Monosomy 2p21"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"2p21 microdeletion syndrome" OR "2p21 deletion syndrome" OR "Del(2)(p21)" OR "Monosomy 2p21"
Study-type breakdown: 0 interventional · 0 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (226) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T08:11:08.382Z