ORPHA:621
Autosomal recessive methemoglobinemia
Publications
543
79.8th percentile
Trials
1
Interventional, condition-specific
Researchers
936
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare red cell disorder classified principally into two clinical phenotypes: (or ) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2).
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018963
- MeSH:C580280
- UMLS:C0272087
- NCIT:C98898
Additional Mondo synonyms (3)
autosomal recessive methemoglobinemia · congenital methemoglobinemia · hereditary methemoglobinemia
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
543 matched papers (215 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
1 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?
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?
543
543 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.
543 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).
215 in the last 10 years · high confidence · 79.8th percentile (publications denominator)
Phrase hits: 543 · MeSH hits: 0
Who's working on it?
936
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.
- 01Giger U6 papers · 2023
School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 02Jaffey JA6 papers · 2023
Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, Midwestern University, Glendale, Arizona.
Papers in Europe PMC - 03Warang P6 papers · 2020
a National Institute of Immunohematology (Indian Council of Medical Research) , Mumbai , India.
Papers in Europe PMC - 04Kedar P5 papers · 2022
a National Institute of Immunohematology (Indian Council of Medical Research) , Mumbai , India.
Papers in Europe PMC - 05Bianchi P4 papers · 2024
UOS Fisiopatologia delle Anemie UO Ematologia Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Italy.
Papers in Europe PMC - 06Fermo E4 papers · 2024
UOS Fisiopatologia delle Anemie UO Ematologia Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Italy.
Papers in Europe PMC - 07Sahu KK4 papers · 2021
Department of Internal Medicine, Saint Vincent Hospital, Worcester, Massachusetts 01608, USA.
Papers in Europe PMC - 08Bouatrous E3 papers · 2025
LR16IPT07, Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Papers in Europe PMC - 09Colah R3 papers · 2017
a National Institute of Immunohematology (Indian Council of Medical Research) , Mumbai , India.
Papers in Europe PMC - 10Colah RB3 papers · 2015
National Institute of Immunohematology, K. E. M. Hospital campus, Parel, Mumbai, India.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 3 trials are registered for methemoglobinemia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 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.
Broader category: methemoglobinemia
3
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. 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.
"Autosomal recessive methemoglobinemia" OR "congenital methemoglobinemia" OR "hereditary methemoglobinemia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive methemoglobinemia" OR "congenital methemoglobinemia" OR "hereditary methemoglobinemia"
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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"methemoglobinemia"
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 2026-07-26T14:35:46.157Z