ORPHA:96184
Temple syndrome due to maternal uniparental disomy of chromosome 14
Also known as: UPD(14)mat
Publications
134
61.9th percentile
Trials
0
Interventional, condition-specific
Researchers
935
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare chromosomal anomaly characterized by and postnatal growth retardation, , motor delay, early puberty, obesity, short adult stature, small hands and feet, mild , and mild facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).
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:0019915
- UMLS:C5680248
Additional Mondo synonyms (1)
maternal uniparental disomy of chromosome type 14
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
134 matched papers (77 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?
134
134 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.
134 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).
77 in the last 10 years · high confidence · 61.9th percentile (publications denominator)
Phrase hits: 134 · MeSH hits: 0
Who's working on it?
935
Distinct author names in 134 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 M28 papers · 2025
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 02Ogata T23 papers · 2025
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 03Eggermann T16 papers · 2024
Institut für Humangenetik, RWTH University Aachen, Aachen, Germany.
Papers in Europe PMC - 04Fukami M14 papers · 2025
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 05Matsubara K14 papers · 2025
Department of Molecular Endocrinology, Research Institute National Center for Child Health and Development Tokyo Japan.
Papers in Europe PMC - 06Buiting K12 papers · 2019
Institut für Humangenetik, Universität Duisburg-Essen, Essen, Germany.
Papers in Europe PMC - 07Nakamura A8 papers · 2025
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 08
- 09Russo S7 papers · 2025
Laboratorio di Citogenetica Medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico italiano, 20149 Milan, Italy.
Papers in Europe PMC - 10Begemann M6 papers · 2020
Institut für Humangenetik, RWTH University Aachen, Aachen, Germany.
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.
"Temple syndrome due to maternal uniparental disomy of chromosome 14" OR "Temple syndrome due to maternal uniparental disomy of the chromosome 14" OR "UPD(14)mat" OR "maternal uniparental disomy of chromosome type 14" OR "maternal uniparental disomy of the chromosome type 14"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Temple syndrome due to maternal uniparental disomy of chromosome 14" OR "Temple syndrome due to maternal uniparental disomy of the chromosome 14" OR "UPD(14)mat" OR "maternal uniparental disomy of chromosome type 14" OR "maternal uniparental disomy of the chromosome type 14"
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 2026-07-27T04:58:28.665Z