ORPHA:1143
Neurogenic arthrogryposis multiplex congenita
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
17
28.7th percentile
Trials
0
Interventional, condition-specific
Researchers
205
Distinct authors in sample
Gene link
ERGIC1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A form of arthrogryposis multiplex congenita characterized by immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008823
- MeSH:C536614
- OMIM:208100
- UMLS:C5435650
Additional Mondo synonyms (2)
AMCN · neurogenic arthrogryposis multiplex congenita
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
Strong — ERGIC1
- LiteraturePresent
17 matched papers (11 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; 1 for broader category arthrogryposis multiplex congenita
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?
Yes — we know a specific gene responsible (ERGIC1).
GenCC classification: Strong.
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).
11 in the last 10 years · medium confidence · 28.7th percentile (publications denominator)
Phrase hits: 17 · MeSH hits: 0
Who's working on it?
205
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.
- 01Blanco-Barca MO2 papers · 2005Papers in Europe PMC
- 02Abdul-Rahman O1 paper · 2019
Munroe-Meyer Institute for Genetics & Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska.
Papers in Europe PMC - 03Adams C1 paper · 1988
Department of Paediatrics, University of Toronto, Ont., Canada.
Papers in Europe PMC - 04Al Mutairi F1 paper · 2022
Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, P.O. Box 22490, Riyadh 11426, Kingdom of Saudi Arabia; King Abdullah International Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
Papers in Europe PMC - 05Al-Asmi A1 paper · 2022
Department of Medicine, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Papers in Europe PMC - 06Al-Futaisi A1 paper · 2022
Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Papers in Europe PMC - 07Al-Hashimi N1 paper · 2022
Department of Pediatrics, Royal Hospital, Ministry of Health, Muscat, Oman.
Papers in Europe PMC - 08Al-Kasbi G1 paper · 2022
Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Papers in Europe PMC - 09Al-Kharusi K1 paper · 2022
Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.
Papers in Europe PMC - 10Al-Kindi A1 paper · 2022
Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
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). 1 trial are registered for arthrogryposis multiplex congenita, 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.
1 interventional trial matched arthrogryposis multiplex congenita, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: arthrogryposis multiplex congenita
1
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.
"Neurogenic arthrogryposis multiplex congenita"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neurogenic arthrogryposis multiplex congenita" OR "ERGIC1" OR "arthrogryposis syndrome"
Recall-expansion terms: ERGIC1, arthrogryposis syndrome
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"arthrogryposis multiplex congenita"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AMCN
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 2026-07-26T16:29:59.007Z