ORPHA:250989
1q21.1 microdeletion syndrome
Also known as: Del(1)(q21) · Monosomy 1q21.1
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
101
54.7th percentile
Trials
0
Interventional, condition-specific
Researchers
885
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012914
- MeSH:C567291
- OMIM:612474
- UMLS:C2675897
Additional Mondo synonyms (3)
1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) · chromosome 1q21.1 deletion syndrome, isolated cases · monosomy 1q21.1
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
101 matched papers (54 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?
101
101 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.
101 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).
54 in the last 10 years · high confidence · 54.7th percentile (publications denominator)
Phrase hits: 101 · MeSH hits: 0
Who's working on it?
885
Distinct author names in 101 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.
- 01Chen Y4 papers · 2022
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Papers in Europe PMC - 02Wu X4 papers · 2020
Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Papers in Europe PMC - 03Xu L4 papers · 2021
Department of the Prenatal Diagnosis Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China. xiliangpu@fjmu.edu.cn.
Papers in Europe PMC - 04Bridge JA3 papers · 2010Papers in Europe PMC
- 05Cai M3 papers · 2021
Department of the Prenatal Diagnosis Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Papers in Europe PMC - 06Chen C3 papers · 2021
Sir Run Run Shaw Hospital, Zhejiang University, Hangzhou, China.
Papers in Europe PMC - 07Heim S3 papers · 2016
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, 0310 Oslo, Norway; Centre for Cancer Biomedicine, University of Oslo, 0310 Oslo, Norway; Faculty of Medicine, University of Oslo, 0310 Oslo, Norway.
Papers in Europe PMC - 08Huang H3 papers · 2021
Department of the Prenatal Diagnosis Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China. huanghailong@fjmu.edu.cn.
Papers in Europe PMC - 09Li Z3 papers · 2024
Department of Traditional Chinese Medicine, The Third Affiliated Hospital of Guangzhou Medical University, Key Laboratory for Major Obstetric Diseases of Guangdong Province, Guangzhou, Guangdong 510150, China, Zhenaifei@sina.com.
Papers in Europe PMC - 10Lin N3 papers · 2021
Department of the Prenatal Diagnosis Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 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 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.
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.
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.
"1q21.1 microdeletion syndrome" OR "Del(1)(q21)" OR "Monosomy 1q21.1" OR "1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)" OR "chromosome 1q21.1 deletion syndrome, isolated cases"
MeSH descriptor terms unioned into the query: Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"1q21.1 microdeletion syndrome" OR "Del(1)(q21)" OR "Monosomy 1q21.1" OR "1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)" OR "chromosome 1q21.1 deletion syndrome, isolated cases" OR "Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 2026-07-27T10:40:28.872Z