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ORPHA:90038

Shiga toxin-associated hemolytic uremic syndrome

low confidenceSubtype of disorder

Also known as: D+ HUS · EHEC-HUS · Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli · Hemolytic uremic syndrome with diarrhea · STEC-HUS · Shiga-like toxin-associated HUS · Stx-HUS · Typical HUS · Typical hemolytic uremic syndrome

Publications

1,758

Trials

3

Interventional, condition-specific

Researchers

1,244

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

D+HUS · STEC Hemolytic Uremic Syndrome · Sxt-HUS · hemolytic-uremic syndrome with diarrhea · hemolytic-uremic syndrome with diarrhoea · typical HUS · typical hemolytic-uremic 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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,758 matched papers (1,049 in last 10 years) Source

  3. Phenotype characterisedPresent

    33 HPO annotations (e.g. Thrombocytopenia; Acute kidney injury; Microangiopathic hemolytic anemia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov (1 recruiting in sample)

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:0019536

  • Thrombocytopenia
  • Acute kidney injury
  • Microangiopathic hemolytic anemia
  • Vomiting
  • Diarrhea

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 2026-07-29

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?

1,758

1,758 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,758 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).

1,049 in the last 10 years · low confidence

Phrase hits: 1,758 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,244

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.

  1. 01
    Balestracci A11 papers · 2026

    Nephrology Unit, Hospital General de Niños Pedro de Elizalde, Montes de Oca 40, 1270, Autonomous City of Buenos Aires, Argentina.

    Papers in Europe PMC
  2. 02
    Alconcher LF8 papers · 2026

    Pediatric Nephrology Unit, Hospital Interzonal General Dr. José Penna, Lainez, 8000, Bahía Blanca, Buenos Aires, 2401, Argentina.

    Papers in Europe PMC
  3. 03
    Ardissino G8 papers · 2026

    Center for HUS Control, Prevention and Management, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milano, Italy.

    Papers in Europe PMC
  4. 04
    Rivas M8 papers · 2026

    Laboratorio Nacional de Referencia, Servicio Fisiopatogenia, Instituto Nacional de Enfermedades Infecciosas-ANLIS Dr. Carlos G. Malbrán, Ciudad Autónoma de Buenos Aires, Argentina.

    Papers in Europe PMC
  5. 05
    Dato L6 papers · 2026

    Division of Pediatrics, Department of Health Sciences, Università del Piemonte Orientale, Novara.

    Papers in Europe PMC
  6. 06
    Principi I6 papers · 2026

    Hospital Pediátrico Dr. Humberto J. Notti, Mendoza, Argentina.

    Papers in Europe PMC
  7. 07
    Zylberman V6 papers · 2026

    Inmunova S.A, Gral. San Martín, Buenos Aires, Argentina.

    Papers in Europe PMC
  8. 08
    Colonna M5 papers · 2026

    Inmunova SA, Ciudad Autónoma de Buenos Aires, Argentina.

    Papers in Europe PMC
  9. 09
    Liu Y5 papers · 2026

    Department of Nephrology, The First Hospital of Jilin University, Changchun 130021, China.

    Papers in Europe PMC
  10. 10
    Mancuso MC5 papers · 2026

    From the Center for HUS Prevention Control and Management at the Pediatric Nephrology Dialysis and Transplant Unit.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 38 trials are registered for hemolytic-uremic syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: hemolytic-uremic syndrome

38

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-30

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 (4)

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 Shiga toxin-associated hemolytic uremic 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.

"Shiga toxin-associated hemolytic uremic syndrome" OR "D+ HUS" OR "EHEC-HUS" OR "Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli" OR "Hemolytic uremic syndrome with diarrhea" OR "STEC-HUS" OR "Shiga-like toxin-associated HUS" OR "Stx-HUS" OR "Typical HUS" OR "Typical hemolytic uremic syndrome" OR "D+HUS" OR "STEC Hemolytic Uremic Syndrome" OR "Sxt-HUS" OR "hemolytic-uremic syndrome with diarrhea" OR "hemolytic-uremic syndrome with diarrhoea" OR "typical hemolytic-uremic syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Shiga toxin-associated hemolytic uremic syndrome" OR "D+ HUS" OR "EHEC-HUS" OR "Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli" OR "Hemolytic uremic syndrome with diarrhea" OR "STEC-HUS" OR "Shiga-like toxin-associated HUS" OR "Stx-HUS" OR "Typical HUS" OR "Typical hemolytic uremic syndrome" OR "D+HUS" OR "STEC Hemolytic Uremic Syndrome" OR "Sxt-HUS" OR "hemolytic-uremic syndrome with diarrhea" OR "hemolytic-uremic syndrome with diarrhoea" OR "typical hemolytic-uremic syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hemolytic-uremic syndrome"

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
  • Publication count (1758) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:30:56.007Z