ORPHA:3202
Dehydrated hereditary stomatocytosis
Also known as: Hereditary xerocytosis
Publications
551
Trials
2
Interventional, condition-specific
Researchers
1,100
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration of variable degree, and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017910
- UMLS:C0272051
Additional Mondo synonyms (1)
hereditary xerocytosis
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
551 matched papers (424 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
2 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)
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?
551
551 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.
551 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).
424 in the last 10 years · low confidence
Phrase hits: 551 · MeSH hits: 0
Who's working on it?
1,100
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.
- 01Andolfo I24 papers · 2026
Department Of Molecular Medicine And Medical Biotechnologies, "Federico II" University Of Naples, Naples, Italy.
Papers in Europe PMC - 02Iolascon A22 papers · 2026
Department Of Molecular Medicine And Medical Biotechnologies, "Federico II" University Of Naples, Naples, Italy.
Papers in Europe PMC - 03Russo R21 papers · 2026
Department Of Molecular Medicine And Medical Biotechnologies, "Federico II" University Of Naples, Naples, Italy.
Papers in Europe PMC - 04Garçon L12 papers · 2026
EA4666 HEMATIM, Université Picardie Jules Verne, Amiens garcon.loic@chu-amiens.fr.
Papers in Europe PMC - 05Kaestner L12 papers · 2026
Theoretical Medicine and Biosciences, Saarland University, Homburg, Germany; and.
Papers in Europe PMC - 06van Wijk R12 papers · 2026
Central Diagnostic Laboratory - Research, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.
Papers in Europe PMC - 07Picard V11 papers · 2026
Laboratoire d'Hématologie, AP-HP, Le Kremlin-Bicêtre, France.
Papers in Europe PMC - 08Rosato BE10 papers · 2026
Department of Molecular Medicine and Medical Biotechnologies, "Federico II" University of Naples.
Papers in Europe PMC - 09Bianchi P9 papers · 2024
Unità Operativa Semplice (UOS) Fisiopatologia delle Anemie, Unità Operativa Complessa (UOC) Ematologia, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 10Marra R9 papers · 2026
Department of Molecular Medicine and Medical Biotechnologies, "Federico II" University of Naples.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
low confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06892171·RECRUITING·The Study of the Phenotype of Hereditary Xerocytosis
Conditions: Xerocytosis · Phenotype · Genotype·Matched via name phrase
Broader category: hereditary stomatocytosis
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Dehydrated hereditary stomatocytosis" OR "Hereditary xerocytosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Dehydrated hereditary stomatocytosis" OR "Hereditary xerocytosis"
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: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hereditary stomatocytosis"
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 (551) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T22:28:36.697Z