ORPHA:168577
Hereditary cryohydrocytosis with reduced stomatin
Also known as: CHC type 2 · Hereditary cryohydrocytosis type 2 · Stomatin-deficient cryohydrocytosis · sdCHC
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
38
40th percentile
Trials
0
Interventional, condition-specific
Researchers
276
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, , variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and . Cataracts are also a presenting feature.
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:0012143
- MeSH:C563840
- OMIM:608885
- UMLS:C1837206
Additional Mondo synonyms (3)
ChC type 2 · hereditary cryohydrocytosis type 2 · stomatin-deficient cryohydrocytosis
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
38 matched papers (28 in last 10 years) Source
- Phenotype characterisedPresent
61 HPO annotations (e.g. Stomatocytosis; Spontaneous hemolytic crises; Hypoglycorrhachia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
61
Associated phenotypes · MONDO:0012143
- Stomatocytosis
- Spontaneous hemolytic crises
- Hypoglycorrhachia
- Hypertonia
- Recurrent infections
Showing 5 of 61 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
38
38 papers have ever been published on this condition (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=3967) is 59.
38 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).
28 in the last 10 years · high confidence · 40th percentile (publications denominator)
Phrase hits: 38 · MeSH hits: 0
Who's working on it?
276
Distinct author names in 38 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.
- 01Bruce LJ5 papers · 2022
Bristol Institute for Transfusion Sciences, National Health Service (NHS) Blood and Transplant, Bristol, United Kingdom.
Papers in Europe PMC - 02Flatt JF4 papers · 2022
Bristol Institute for Transfusion Sciences, National Health Service (NHS) Blood and Transplant, Bristol, United Kingdom.
Papers in Europe PMC - 03Delaunay J3 papers · 2011
Service d'Hématologie, d'Immunologie et de Cytogénétique, Hôpital de Bicêtre, Faculté de Médecine Paris-Sud, INSERM U-473, 84 rue du Général-Leclerc, 94273 Le Kremlin-Bicêtre, France.
Papers in Europe PMC - 04Stevens-Hernandez CJ3 papers · 2022
Bristol Institute for Transfusion Sciences, National Health Service (NHS) Blood and Transplant, Bristol, United Kingdom.
Papers in Europe PMC - 05Aguilar-Martinez P2 papers · 2011Papers in Europe PMC
- 06
- 07Klepper J2 papers · 2025
Children's Hospital Aschaffenburg, Aschaffenburg, Germany. Electronic address: joerg.klepper@klinikum-aschaffenburg.de.
Papers in Europe PMC - 08Quittet P2 papers · 2011Papers in Europe PMC
- 09Stewart GW2 papers · 2011Papers in Europe PMC
- 10Abarca-Barriga HH1 paper · 2025
Instituto de Investigaciones de Ciencias Biomédicas, Facultad de Medicina Humana, Universidad Ricardo Palma, Av. Benavides 5440. Santiago de Surco, Lima, 1801, Perú. hugo.abarca@urp.edu.pe.
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).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · dropped 0 · fetched 2026-07-30
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 (6)
- isrctn·ISRCTN92021748·No longer recruiting·Spirometry screening for post-tuberculosis lung disease among adolescents and adults in Mozambique
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN67031403·No longer recruiting·Impact of youth lay health workers on HIV service delivery in South Africa
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN65858561·No longer recruiting·A clinical trial looking at maintaining hydration at the end of life
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN99343883·No longer recruiting·Cyclic progesterone and spironolactone treatment for androgenic polycystic ovary syndrome
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN10955668·No longer recruiting·Comparison of two anesthestic gases on liver and kidney in hepatitis C patients
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN76212203·No longer recruiting·The evaluation of a training for patients with hepatitis C to improve their quality of life
skipped — LLM skipped (--skip-llm)
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 cryohydrocytosis with reduced stomatin — check Associations / patient organisations on that page.
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 cryohydrocytosis with reduced stomatin" OR "CHC type 2" OR "Hereditary cryohydrocytosis type 2" OR "Stomatin-deficient cryohydrocytosis" OR "sdCHC"
MeSH descriptor terms unioned into the query: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary cryohydrocytosis with reduced stomatin" OR "CHC type 2" OR "Hereditary cryohydrocytosis type 2" OR "Stomatin-deficient cryohydrocytosis" OR "sdCHC" OR "Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 2026-07-27T08:28:04.422Z