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ORPHA:822

Hereditary spherocytosis

high confidenceDisorder

Also known as: Minkowski-Chauffard disease

Publications

6,984

92.9th percentile

Trials

3

Interventional, condition-specific

Researchers

1,012

Distinct authors in sample

Gene link

ANK1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

spherocytosis is a hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, and cholelithiasis.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

congenital spherocytic hemolytic anaemia · hereditary spherocytosis · spherocytic anaemia

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ANK1

  2. LiteraturePresent

    6,984 matched papers (3,383 in last 10 years) Source

  3. Phenotype characterisedPresent

    60 HPO annotations (e.g. Increased red cell osmotic fragility; Pallor; Muscle weakness) Source

  4. Animal modelPresent

    20 genotype models (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 trialPresent

    3 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 (ANK1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

60

Associated phenotypes · MONDO:0019350

  • Increased red cell osmotic fragility
  • Pallor
  • Muscle weakness
  • Splenomegaly
  • Hypofibrinogenemia

Showing 5 of 60 — open Monarch for the full list.

Animal models (Monarch / Alliance)

20

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

1

Drugs / clinical candidates · MONDO_0019350

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

6,984

6,984 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.

6,984 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).

3,383 in the last 10 years · high confidence · 92.9th percentile (publications denominator)

Phrase hits: 4,699 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,012

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
    Zhang Y7 papers · 2026

    Department of Gynaecology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

    Papers in Europe PMC
  2. 02
    Wang H6 papers · 2025

    Department of Hematology, Jiangxi Provincial Children's Hospital, Nanchang, China.

    Papers in Europe PMC
  3. 03
    Wang Y5 papers · 2026

    Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.

    Papers in Europe PMC
  4. 04
    Chen Y4 papers · 2026

    Department of Transfusion Medicine, Xijing Hospital, Fourth Military Medical University, Xi'an, China.

    Papers in Europe PMC
  5. 05
    Huang X4 papers · 2026

    Department of General Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No. 56 Nanlishi Road, Beijing, 100045, China.

    Papers in Europe PMC
  6. 06
    Li Y4 papers · 2026

    Department of Hematology and Oncology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolismand Inflammatory Diseases, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.

    Papers in Europe PMC
  7. 07
    Liu T4 papers · 2026

    Shengli Oilfield Central Hospital, Shandong, China.

    Papers in Europe PMC
  8. 08
    Bian J3 papers · 2025

    Department of Pediatric Surgery, Anhui Provincial Children's Hospital, Hefei, China.

    Papers in Europe PMC
  9. 09
    Chen F3 papers · 2025

    Department of Hematology, Jiangxi Provincial Children's Hospital, Nanchang, China.

    Papers in Europe PMC
  10. 10
    Coimbra S3 papers · 2024

    UCIBIO-Applied Molecular Biosciences Unit, Laboratory of Biochemistry, Department of Biological Sciences, Faculty of Pharmacy, University of Porto, 4051-401 Porto, Portugal.

    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; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 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).

high 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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Hereditary spherocytosis — 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.

("Hereditary spherocytosis" OR "Minkowski-Chauffard disease" OR "congenital spherocytic hemolytic anaemia" OR "spherocytic anaemia") OR ("ANK1" OR "ANK1 syndrome" OR "ANK1-related")

Run this search on Europe PMC

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

"Hereditary spherocytosis" OR "Minkowski-Chauffard disease" OR "congenital spherocytic hemolytic anaemia" OR "spherocytic anaemia"

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 · 2 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:33:05.909Z