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ORPHA:1143

Neurogenic arthrogryposis multiplex congenita

medium confidenceDisorder

Publications

328

73th percentile

Trials

0

Interventional, condition-specific

Researchers

205

Distinct authors in sample

Gene link

ERGIC1

Strong

Readiness

5/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — ERGIC1

  2. LiteraturePresent

    328 matched papers (266 in last 10 years) Source

  3. Phenotype characterisedPresent

    139 HPO annotations (e.g. Failure to thrive in infancy; Arthrogryposis multiplex congenita; Hyperkeratosis) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

139

Associated phenotypes · MONDO:0008823

  • Failure to thrive in infancy
  • Arthrogryposis multiplex congenita
  • Hyperkeratosis
  • Intellectual disability
  • Abnormal platelet count

Showing 5 of 139 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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?

328

328 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.

328 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).

266 in the last 10 years · medium confidence · 73th percentile (publications denominator)

Phrase hits: 17 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Blanco-Barca MO2 papers · 2005
    Papers in Europe PMC
  2. 02
    Abdul-Rahman O1 paper · 2019

    Munroe-Meyer Institute for Genetics & Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska.

    Papers in Europe PMC
  3. 03
    Adams C1 paper · 1988

    Department of Paediatrics, University of Toronto, Ont., Canada.

    Papers in Europe PMC
  4. 04
    Al 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
  5. 05
    Al-Asmi A1 paper · 2022

    Department of Medicine, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

    Papers in Europe PMC
  6. 06
    Al-Futaisi A1 paper · 2022

    Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

    Papers in Europe PMC
  7. 07
    Al-Hashimi N1 paper · 2022

    Department of Pediatrics, Royal Hospital, Ministry of Health, Muscat, Oman.

    Papers in Europe PMC
  8. 08
    Al-Kasbi G1 paper · 2022

    Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

    Papers in Europe PMC
  9. 09
    Al-Kharusi K1 paper · 2022

    Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.

    Papers in Europe PMC
  10. 10
    Al-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 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.

medium 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.

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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Neurogenic arthrogryposis multiplex congenita — check Associations / patient organisations on that page.

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.

("Neurogenic arthrogryposis multiplex congenita") OR ("ERGIC1" OR "ERGIC1 syndrome" OR "ERGIC1-related")

Run this search on Europe PMC

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

"Neurogenic arthrogryposis multiplex congenita"

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: ok — strategies attempted: phrase; 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