ORPHA:96186
Maternal uniparental disomy of chromosome 20 syndrome
Also known as: Maternal UPD(20) · UPD(20)mat
Publications
70
49.9th percentile
Trials
0
Interventional, condition-specific
Researchers
483
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is and postnatal growth retardation. Microcephaly, minor features and psychomotor have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.
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:0019917
- OMIM:617352
- UMLS:C4275029
Additional Mondo synonyms (2)
maternal UPD(20) · maternal uniparental disomy of chromosome type 20
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
70 matched papers (59 in last 10 years) Source
- Phenotype characterisedPresent
33 HPO annotations (e.g. Feeding difficulties; Horseshoe kidney; Cafe-au-lait spot) 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)
33
Associated phenotypes · MONDO:0019917
- Feeding difficulties
- Horseshoe kidney
- Cafe-au-lait spot
- Generalized hypotonia
- Retrognathia
Showing 5 of 33 — 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 2026-07-27
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?
70
70 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.
70 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).
59 in the last 10 years · high confidence · 49.9th percentile (publications denominator)
Phrase hits: 70 · MeSH hits: 0
Who's working on it?
483
Distinct author names in 70 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 M16 papers · 2026
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 02Eggermann T14 papers · 2024
Medical Faculty, Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.
Papers in Europe PMC - 03Ogata T11 papers · 2024
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 04Fukami M10 papers · 2026
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 05Matsubara K9 papers · 2024
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 06Nakamura A8 papers · 2024
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 07Russo S8 papers · 2025
Laboratory of Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano IRCCS, Milano, Italy.
Papers in Europe PMC - 08Inoue T6 papers · 2024
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 09Tannorella P6 papers · 2025
Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy.
Papers in Europe PMC - 10
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 9 September 2026 · last trial check 9 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.
high 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.
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.
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 2026-07-27
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 Maternal uniparental disomy of chromosome 20 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.
"Maternal uniparental disomy of chromosome 20 syndrome" OR "Maternal UPD(20)" OR "UPD(20)mat" OR "maternal uniparental disomy of chromosome type 20"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Maternal uniparental disomy of chromosome 20 syndrome" OR "Maternal uniparental disomy of the chromosome 20 syndrome" OR "Maternal UPD(20)" OR "UPD(20)mat" OR "maternal uniparental disomy of chromosome type 20" OR "maternal uniparental disomy of the chromosome type 20"
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 2026-07-26T02:19:38.153Z