ORPHA:97685
17q11 microdeletion syndrome
Also known as: Del(17)(q11) · Monosomy 17q11 · NF1 microdeletion syndrome · Neurofibromatosis type 1 microdeletion syndrome
Publications
121
62.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,099
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, , , increased risk of malignancies, and a large number of neurofibromas.
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:0013357
- MeSH:C563524
- OMIM:613675
- UMLS:C5401456
Additional Mondo synonyms (10)
MMFD · RNF135-related overgrowth syndrome · Van Asperen syndrome · chromosome 17q11.2 deletion syndrome · chromosome 17q11.2 deletion syndrome, 1.4-MB · macrocephaly, macrosomia, and facial dysmorphism syndrome · monosomy 17q11 · neurofibromatosis 1 microdeletion syndrome · neurofibromatosis type 1 microdeletion syndrome · overgrowth-macrocephaly-facial dysmorphism syndrome
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
121 matched papers (79 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?
121
121 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.
121 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).
79 in the last 10 years · medium confidence · 62.4th percentile (publications denominator)
Phrase hits: 121 · MeSH hits: 2
Who's working on it?
1,099
Distinct author names in 121 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.
- 01Riva P15 papers · 2024
Department of Biology and Genetics, Medical Faculty, University of Milan, 20133 Milan, Italy.
Papers in Europe PMC - 02Venturin M9 papers · 2014
Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3/5, 20133, Milan, Italy.
Papers in Europe PMC - 03Larizza L8 papers · 2010Papers in Europe PMC
- 04Kehrer-Sawatzki H6 papers · 2023
Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany.
Papers in Europe PMC - 05Gervasini C5 papers · 2010
Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Milan, Italy.
Papers in Europe PMC - 06Upadhyaya M5 papers · 2018
Division of Cancer and Genetics, Cardiff University, Cardiff CF14 4XN, UK.
Papers in Europe PMC - 07Bene J4 papers · 2025
Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
Papers in Europe PMC - 08Chen X4 papers · 2025
Maternal and Child Health Hospital of Hubei Province, Hubei, 430070, China. 928339431@qq.com.
Papers in Europe PMC - 09Cooper DN4 papers · 2021
Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.
Papers in Europe PMC - 10Eoli M4 papers · 2024
Unit of Molecular Neuro-Oncology, IRCCS Foundation, Carlo Besta Neurological Institute, Milan 20133, Italy.
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.
"17q11 microdeletion syndrome" OR "Del(17)(q11)" OR "Monosomy 17q11" OR "NF1 microdeletion syndrome" OR "Neurofibromatosis type 1 microdeletion syndrome" OR "RNF135-related overgrowth syndrome" OR "Van Asperen syndrome" OR "chromosome 17q11.2 deletion syndrome" OR "chromosome 17q11.2 deletion syndrome, 1.4-MB" OR "macrocephaly, macrosomia, and facial dysmorphism syndrome" OR "neurofibromatosis 1 microdeletion syndrome" OR "overgrowth-macrocephaly-facial dysmorphism syndrome"
MeSH descriptor terms unioned into the query: NF1 Microdeletion Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"17q11 microdeletion syndrome" OR "Del(17)(q11)" OR "Monosomy 17q11" OR "NF1 microdeletion syndrome" OR "Neurofibromatosis type 1 microdeletion syndrome" OR "RNF135-related overgrowth syndrome" OR "Van Asperen syndrome" OR "chromosome 17q11.2 deletion syndrome" OR "chromosome 17q11.2 deletion syndrome, 1.4-MB" OR "macrocephaly, macrosomia, and facial dysmorphism syndrome" OR "neurofibromatosis 1 microdeletion syndrome" OR "overgrowth-macrocephaly-facial dysmorphism syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MMFD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- "overgrowth-macrocephaly-facial dysmorphism syndrome" also appears on ORPHA:137634
Ingested 2026-07-27T05:18:04.813Z