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ORPHA:3163

SHORT syndrome

low confidenceDisorder

Also known as: Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome

Publications

5,010,390

Trials

0

Interventional, condition-specific

Researchers

1,274

Distinct authors in sample

Gene link

PIK3R1

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — PIK3R1

  2. LiteraturePresent

    5,010,390 matched papers (2,974,112 in last 10 years) Source

  3. Phenotype characterisedPresent

    90 HPO annotations (e.g. Ovarian cyst; Megalocornea; Hyperglycemia) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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?

Yes — we know a specific gene responsible (PIK3R1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

90

Associated phenotypes · MONDO:0010026

  • Ovarian cyst
  • Megalocornea
  • Hyperglycemia
  • Cataract
  • Prominent forehead

Showing 5 of 90 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

5,010,390

5,010,390 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,010,390 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).

2,974,112 in the last 10 years · low confidence

Phrase hits: 291 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,274

Distinct author names in 200 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.

  1. 01
    Hirota Y8 papers · 2025

    Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan.

    Papers in Europe PMC
  2. 02
    Ogawa W8 papers · 2025

    Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan.

    Papers in Europe PMC
  3. 03
    Semple RK8 papers · 2025

    The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, United Kingdom.

    Papers in Europe PMC
  4. 04
    Njølstad 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
  5. 05
    Dyment 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
  6. 06
    Innes AM5 papers · 2020

    Department of Medical Genetics, University of Calgary, Calgary, Canada.

    Papers in Europe PMC
  7. 07
    Kahn CR5 papers · 2020

    Joslin Diabetes Center and Harvard Medical School, Boston, MA c.ronald.kahn@joslin.harvard.edu.

    Papers in Europe PMC
  8. 08
    Reis 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
  9. 09
    Semina EV5 papers · 2024

    Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin.

    Papers in Europe PMC
  10. 10
    Zhang 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?

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.

low 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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (40)

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 SHORT syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("PIK3R1" OR "PIK3R1 syndrome" OR "PIK3R1-related" OR "SHORT" OR "SHORT-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

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
  • Publication count (5010390) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T22:21:27.188Z