ORPHA:3163
SHORT syndrome
Also known as: Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome
Publications
291
79.6th percentile
Trials
2
Interventional, condition-specific
Researchers
1,274
Distinct authors in sample
Gene link
PIK3R1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder characterized by multiple anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.
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:0010026
- MeSH:C537327
- OMIM:269880
- UMLS:C0878684
Additional Mondo synonyms (3)
Aarskog-Ose-Pande syndrome · lipodystrophy-Rieger anomaly-diabetes syndrome · short 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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — PIK3R1
- LiteraturePresent
291 matched papers (212 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 trialPresent
2 matched on ClinicalTrials.gov
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?
Yes — we know a specific gene responsible (PIK3R1).
GenCC classification: Definitive.
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?
291
291 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.
291 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).
212 in the last 10 years · medium confidence · 79.6th percentile (publications denominator)
Phrase hits: 291 · MeSH hits: 0
Who's working on it?
1,274
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Hirota Y8 papers · 2025
Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC - 02Ogawa W8 papers · 2025
Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC - 03Semple RK8 papers · 2025
The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, United Kingdom.
Papers in Europe PMC - 04Njølstad PR7 papers · 2022
Department of Clinical Science, University of Bergen, and Children and Youth Clinic, Hauk eland University Hospital, Bergen, Norway.
Papers in Europe PMC - 05Dyment DA5 papers · 2020
Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada. ddyment@cheo.on.ca
Papers in Europe PMC - 06Innes AM5 papers · 2020
Department of Medical Genetics, University of Calgary, Calgary, Canada.
Papers in Europe PMC - 07Kahn CR5 papers · 2020
Joslin Diabetes Center and Harvard Medical School, Boston, MA c.ronald.kahn@joslin.harvard.edu.
Papers in Europe PMC - 08Reis LM5 papers · 2024
Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin 53226-0509, USA.
Papers in Europe PMC - 09Semina EV5 papers · 2024
Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin.
Papers in Europe PMC - 10Zhang Z5 papers · 2025
Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"SHORT syndrome" OR "Lipodystrophy-Rieger anomaly-diabetes syndrome" OR "Rieger anomaly-partial lipodystrophy syndrome" OR "Aarskog-Ose-Pande syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"SHORT syndrome" OR "Lipodystrophy-Rieger anomaly-diabetes syndrome" OR "Rieger anomaly-partial lipodystrophy syndrome" OR "Aarskog-Ose-Pande syndrome" OR "PIK3R1"
Recall-expansion terms: PIK3R1
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T22:21:27.188Z