ORPHA:97685
17q11 microdeletion syndrome
Also known as: Del(17)(q11) · Monosomy 17q11 · NF1 microdeletion syndrome · Neurofibromatosis type 1 microdeletion syndrome
Publications
121
54.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,099
Distinct authors in sample
Gene link
—
Readiness
2/6
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.”
2/6 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 characterisedPresent
161 HPO annotations (e.g. Reduced social responsiveness; Multiple cafe-au-lait spots; Abnormal heart morphology) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
161
Associated phenotypes · MONDO:0013357
- Reduced social responsiveness
- Multiple cafe-au-lait spots
- Abnormal heart morphology
- Memory impairment
- Beaking of vertebral bodies T12-L3
Showing 5 of 161 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
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=3967) is 59.
121 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
79 in the last 10 years · medium confidence · 54.1th 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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for 17q11 microdeletion syndrome — check Associations / patient organisations on that page.
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