ORPHA:96185
Maternal uniparental disomy of chromosome 16 syndrome
Also known as: UPD(16)mat
Publications
50
50.5th percentile
Trials
0
Interventional, condition-specific
Researchers
339
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a disease mutation for which the mother was a carrier have been described, and specific depends on the inherited disorder.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019916
- UMLS:C4750769
Additional Mondo synonyms (1)
maternal uniparental disomy of chromosome type 16
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
50 matched papers (42 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?
50
50 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.
50 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).
42 in the last 10 years · high confidence · 50.5th percentile (publications denominator)
Phrase hits: 50 · MeSH hits: 0
Who's working on it?
339
Distinct author names in 50 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.
- 01Kagami M13 papers · 2025
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 02Eggermann T11 papers · 2025
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany. teggermann@ukaachen.de.
Papers in Europe PMC - 03Ogata T10 papers · 2024
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 04Fukami M8 papers · 2025
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 05Matsubara K8 papers · 2024
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 06Nakamura A7 papers · 2024
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 07Russo S6 papers · 2025
IRCCS Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.
Papers in Europe PMC - 08Begemann M5 papers · 2025
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
Papers in Europe PMC - 09Inoue T5 papers · 2024
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan.
Papers in Europe PMC - 10Nakabayashi K5 papers · 2025
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
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.
Broader category uniparental disomy also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: uniparental disomy
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Maternal uniparental disomy of chromosome 16 syndrome" OR "Maternal uniparental disomy of the chromosome 16 syndrome" OR "UPD(16)mat" OR "maternal uniparental disomy of chromosome type 16" OR "maternal uniparental disomy of the chromosome type 16"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Maternal uniparental disomy of chromosome 16 syndrome" OR "Maternal uniparental disomy of the chromosome 16 syndrome" OR "UPD(16)mat" OR "maternal uniparental disomy of chromosome type 16" OR "maternal uniparental disomy of the chromosome type 16"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"uniparental disomy"
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
Ingested 2026-07-27T04:58:36.077Z