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ORPHA:99846

Autosomal dominant myoglobinuria

high confidenceDisorder

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

24

26.3th percentile

Trials

0

Interventional, condition-specific

Researchers

166

Distinct authors in sample

Gene link

—

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

A rare characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.

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)

myoglobinuria, autosomal dominant

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.”

1/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    24 matched papers (9 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. 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)

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?

24

24 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=5449) is 41.

24 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).

9 in the last 10 years · high confidence · 26.3th percentile (publications denominator)

Phrase hits: 24 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

166

Distinct author names in 24 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.

  1. 01
    Beggs AH3 papers · 2014

    Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA beggs@enders.tch.harvard.edu.

    Papers in Europe PMC
  2. 02
    Bitoun M3 papers · 2025

    Research Center for Myology, UPMC Univ Paris 06 and INSERM UMR_S974, CNRS FRE 3617, Institute of Myology, Paris 75013, France m.bitoun@institut-myologie.org.

    Papers in Europe PMC
  3. 03
    Cowling BS3 papers · 2021

    Dynacure, 67400 Illkirch, France.

    Papers in Europe PMC
  4. 04
    Laporte J3 papers · 2021

    Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France.

    Papers in Europe PMC
  5. 05
    Romero NB3 papers · 2025

    Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France, Chaire de Génétique Humaine, Illkirch, France. INSERM UMR974, F-75013, Paris, France. CNRS, UMR7215, F-75013, Paris, France. Sorbonne Universités, Université Pierre et Marie Curie–Paris 6, UM76, F-75005, Paris France. Institut de Myologie, F-75013, Paris France. Université Paris Descartes, Paris Sorbonne Cité, F-75006, Paris, France. Department of Pediatrics, Strasbourg-Hautepierre University Hospital, Strasbourg, France. Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France. Université Pierre et Marie Curie–Paris 6, UM76, F-75013, Paris, France. Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France.

    Papers in Europe PMC
  6. 06
    Fardeau M2 papers · 2007
    Papers in Europe PMC
  7. 07
    Guicheney P2 papers · 2016

    INSERM, UMR_S1166, Sorbonne Universités, UPMC Univ Paris 06, UMR_S1166, Institute of Cardiometabolism and Nutrition (ICAN), Paris 75013, France.

    Papers in Europe PMC
  8. 08
    Kretz C2 papers · 2014

    Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France, Chaire de Génétique Humaine, Illkirch, France. INSERM UMR974, F-75013, Paris, France. CNRS, UMR7215, F-75013, Paris, France. Sorbonne Universités, Université Pierre et Marie Curie–Paris 6, UM76, F-75005, Paris France. Institut de Myologie, F-75013, Paris France. Université Paris Descartes, Paris Sorbonne Cité, F-75006, Paris, France. Department of Pediatrics, Strasbourg-Hautepierre University Hospital, Strasbourg, France. Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France. Université Pierre et Marie Curie–Paris 6, UM76, F-75013, Paris, France. Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France.

    Papers in Europe PMC
  9. 09
    Park SH2 papers · 2007
    Papers in Europe PMC
  10. 10
    Pierson CR2 papers · 2008

    Department of Pathology, Children's Hospital Boston, Massachusetts 02115, USA. cpierson@enders.tch.harvard.edu

    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 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

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 2026-07-26

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.

"Autosomal dominant myoglobinuria" OR "myoglobinuria, autosomal dominant"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Myoglobinuria, Autosomal Dominant

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autosomal dominant myoglobinuria" OR "myoglobinuria, autosomal dominant" OR "autosomal genetic disease"

Recall-expansion terms: autosomal genetic disease

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T06:23:05.365Z