ORPHA:79091
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Also known as: HIBM3 · Hereditary inclusion body myopathy type 3 · IBM3 · Inclusion body myopathy type 3
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
17
23.5th percentile
Trials
0
Interventional, condition-specific
Researchers
96
Distinct authors in sample
Gene link
MYH2
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. , respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly . Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.
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:0019195
- UMLS:C4510610
Additional Mondo synonyms (2)
hereditary inclusion body myopathy type 3 · inclusion body myopathy type 3
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Limited — MYH2
- LiteraturePresent
17 matched papers (7 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 trialPartial
None under the specific name; 11 for broader category hereditary inclusion-body myopathy
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?
Possibly — only limited evidence so far for MYH2.
GenCC classification: Limited.
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?
17
17 papers have ever been indexed 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.
17 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).
7 in the last 10 years · medium confidence · 23.5th percentile (publications denominator)
Phrase hits: 17 · MeSH hits: 0
Who's working on it?
96
Distinct author names in 17 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.
- 01Barohn RJ2 papers · 2014
Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Mail Stop 2012, Kansas City, KS 66160, USA.
Papers in Europe PMC - 02Bernstein SI2 papers · 2017
Department of Biology and Molecular Biology Institute, San Diego State University, San Diego, CA 92182-4614, USA swankd@rpi.edu sbernstein@mail.sdsu.edu.
Papers in Europe PMC - 03Gang Q2 papers · 2014
Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK. q.gang@ucl.ac.uk.
Papers in Europe PMC - 04Hanna MG2 papers · 2014Papers in Europe PMC
- 05Houlden H2 papers · 2014Papers in Europe PMC
- 06Li X2 papers · 2012Papers in Europe PMC
- 07Lu Y2 papers · 2018
Department of Neurology, Capital Medical University, Xuan Wu Hospital, Beijing, People's Republic of China.
Papers in Europe PMC - 08Melkani A2 papers · 2017
Department of Biology and Molecular Biology Institute, San Diego State University, San Diego, CA 92182-4614, USA.
Papers in Europe PMC - 09Melkani GC2 papers · 2017
Department of Biology and Molecular Biology Institute, San Diego State University, San Diego, CA 92182-4614, USA.
Papers in Europe PMC - 10Ramdharry G2 papers · 2021
National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, United Kingdom.
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). 11 trials are registered for hereditary inclusion-body myopathy, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
medium 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.
11 interventional trials matched hereditary inclusion-body myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hereditary inclusion-body myopathy
11
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.
"Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome" OR "HIBM3" OR "Hereditary inclusion body myopathy type 3" OR "Inclusion body myopathy type 3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome" OR "HIBM3" OR "Hereditary inclusion body myopathy type 3" OR "Inclusion body myopathy type 3" OR "MYH2"
Recall-expansion terms: MYH2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hereditary inclusion-body myopathy"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: IBM3
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:55:34.033Z