ORPHA:822
Hereditary spherocytosis
Also known as: Minkowski-Chauffard disease
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
4,699
95.4th percentile
Trials
3
Interventional, condition-specific
Researchers
1,012
Distinct authors in sample
Gene link
ANK1
Definitive
Readiness
3/6
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).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019350
- MeSH:D013103
- UMLS:C0037889
- NCIT:C97074
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — ANK1
- LiteraturePresent
4,699 matched papers (1,901 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
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)
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?
4,699
4,699 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=5449) is 41.
4,699 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).
1,901 in the last 10 years · high confidence · 95.4th percentile (publications denominator)
Phrase hits: 4,699 · MeSH hits: 0
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.
- 01Zhang 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 - 02Wang H6 papers · 2025
Department of Hematology, Jiangxi Provincial Children's Hospital, Nanchang, China.
Papers in Europe PMC - 03Wang Y5 papers · 2026
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Papers in Europe PMC - 04Chen Y4 papers · 2026
Department of Transfusion Medicine, Xijing Hospital, Fourth Military Medical University, Xi'an, China.
Papers in Europe PMC - 05Huang 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 - 06Li 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 - 07
- 08Bian J3 papers · 2025
Department of Pediatric Surgery, Anhui Provincial Children's Hospital, Hefei, China.
Papers in Europe PMC - 09Chen F3 papers · 2025
Department of Hematology, Jiangxi Provincial Children's Hospital, Nanchang, China.
Papers in Europe PMC - 10Coimbra 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 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
high confidence · 85.1th 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.
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.
"Hereditary spherocytosis" OR "Minkowski-Chauffard disease" OR "congenital spherocytic hemolytic anaemia" OR "spherocytic anaemia"
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" OR "ANK1"
Recall-expansion terms: ANK1
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: suspect — strategies attempted: phrase, recall-expansion; 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