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ORPHA:544472

Atypical hemolytic uremic syndrome with complement gene abnormality

high confidenceSubtype of disorder

Also known as: Atypical HUS with complement gene abnormality · aHUS with complement gene abnormality

Publications

3

15.2th percentile

Trials

0

Interventional, condition-specific

Researchers

40

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

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.

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3 matched papers (3 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 25 for broader category atypical hemolytic-uremic syndrome

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?

3

3 papers have ever been indexed 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.

3 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).

3 in the last 10 years · high confidence · 15.2th percentile (publications denominator)

Phrase hits: 3 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

40

Distinct author names in 3 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
    Andersone I1 paper · 2021

    Pediatric Clinic, Children's Clinical University Hospital, Riga, Latvia.

    Papers in Europe PMC
  2. 02
    Ariceta G1 paper · 2021

    Department of Paediatric Nephrology, Hospital Universitario Vall d'Hebron, Barcelona, Spain.

    Papers in Europe PMC
  3. 03
    Awan A1 paper · 2021

    Department of Nephrology, Children's Health Ireland, Dublin, Ireland.

    Papers in Europe PMC
  4. 04
    Bacchetta J1 paper · 2021

    Department of Paediatric Nephrology, Rheumatology and Dermatology, Reference Center for Rare Renal Diseases, Reference Center for Rare Diseases of Calcium and Phosphorus, University Children's Hospital, Lyon, France.

    Papers in Europe PMC
  5. 05
    Bassanese G1 paper · 2021

    Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany.

    Papers in Europe PMC
  6. 06
    Bockenhauer D1 paper · 2021

    Department of Renal Medicine, University College London and Paediatric Nephrology Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

    Papers in Europe PMC
  7. 07
    Buescher A1 paper · 2021

    Department of Pediatrics II, University Hospital of Essen, University Duisburg-Essen, Essen, Germany.

    Papers in Europe PMC
  8. 08
    Capasso G1 paper · 2021

    Department of Translational Medical Sciences, University Luigi Vanvitelli, Naples, Italy.

    Papers in Europe PMC
  9. 09
    Cornelissen E1 paper · 2021

    Department of Pediatric Nephrology, Radboudumc, Amalia Children's Hospital, Nijmegen, Netherlands.

    Papers in Europe PMC
  10. 10
    Decramer S1 paper · 2021

    Pediatric Nephrology, Internal Medicine and Rhumatology, Southwest Renal Rares Diseases Centre (SORARE), University Children's Hospital, Toulouse, France.

    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). 25 trials are registered for atypical hemolytic-uremic syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

25 interventional trials matched atypical hemolytic-uremic syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: atypical hemolytic-uremic syndrome

25

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

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 2026-07-26

Likely covered — the policy lists Atypical hemolytic uremic syndrome (aHUS) as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 3 — high-cost / lifelong therapy with careful selection

Up to ₹50 lakh per patient

Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.

Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Atypical hemolytic uremic syndrome with complement gene abnormality" OR "Atypical HUS with complement gene abnormality" OR "aHUS with complement gene abnormality"

Run this search on Europe PMC

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

"Atypical hemolytic uremic syndrome with complement gene abnormality" OR "Atypical HUS with complement gene abnormality" OR "aHUS with complement gene abnormality"

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

Parent-category trials query:

"atypical 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

Ingested 2026-07-27T18:16:50.692Z