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ORPHA:3202

Dehydrated hereditary stomatocytosis

low confidenceDisorder

Also known as: Hereditary xerocytosis

Publications

551

Trials

2

Interventional, condition-specific

Researchers

1,100

Distinct authors in sample

Gene link

—

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 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

    551 matched papers (424 in last 10 years) Source

  3. Phenotype characterisedPresent

    52 HPO annotations (e.g. Hemolytic anemia; Thrombocytosis; Hepatomegaly) Source

  4. Animal modelPresent

    1 genotype model (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

    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)

52

Associated phenotypes · MONDO:0017910

  • Hemolytic anemia
  • Thrombocytosis
  • Hepatomegaly
  • Hyperbilirubinemia
  • Acanthocytosis

Showing 5 of 52 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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

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?

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=3967) is 59.

551 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).

424 in the last 10 years · low confidence

Phrase hits: 551 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Andolfo I24 papers · 2026

    Department Of Molecular Medicine And Medical Biotechnologies, "Federico II" University Of Naples, Naples, Italy.

    Papers in Europe PMC
  2. 02
    Iolascon A22 papers · 2026

    Department Of Molecular Medicine And Medical Biotechnologies, "Federico II" University Of Naples, Naples, Italy.

    Papers in Europe PMC
  3. 03
    Russo R21 papers · 2026

    Department Of Molecular Medicine And Medical Biotechnologies, "Federico II" University Of Naples, Naples, Italy.

    Papers in Europe PMC
  4. 04
    Garçon L12 papers · 2026

    EA4666 HEMATIM, Université Picardie Jules Verne, Amiens garcon.loic@chu-amiens.fr.

    Papers in Europe PMC
  5. 05
    Kaestner L12 papers · 2026

    Theoretical Medicine and Biosciences, Saarland University, Homburg, Germany; and.

    Papers in Europe PMC
  6. 06
    van Wijk R12 papers · 2026

    Central Diagnostic Laboratory - Research, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.

    Papers in Europe PMC
  7. 07
    Picard V11 papers · 2026

    Laboratoire d'Hématologie, AP-HP, Le Kremlin-Bicêtre, France.

    Papers in Europe PMC
  8. 08
    Rosato BE10 papers · 2026

    Department of Molecular Medicine and Medical Biotechnologies, "Federico II" University of Naples.

    Papers in Europe PMC
  9. 09
    Bianchi 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
  10. 10
    Marra 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 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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.

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.

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

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 Dehydrated hereditary stomatocytosis — 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.

"Dehydrated hereditary stomatocytosis" OR "Hereditary xerocytosis"

Run this search on Europe PMC

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