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ORPHA:329457

Distal arthrogryposis type 5D

low confidenceDisorder

Also known as: Distal arthrogryposis type 5 without ophthalmoplegia · DA5D · Distal arthrogryposis type 5 without ophthalmoparesis

Publications

501

Trials

0

Interventional, condition-specific

Researchers

426

Distinct authors in sample

Gene link

ECEL1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, hip dislocation, club feet, scoliosis and short stature.

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 (4)

ECEL1 distal arthrogryposis · distal arthrogryposis caused by mutation in ECEL1 · distal arthrogryposis type 5 without ophthalmoparesis · distal arthrogryposis type 5 without ophthalmoplegia

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — ECEL1

  2. LiteraturePresent

    501 matched papers (343 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Hypoplastic labia majora; Talipes equinovarus; Congenital hip dislocation) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  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?

Yes — we know a specific gene responsible (ECEL1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0014028

  • Hypoplastic labia majora
  • Talipes equinovarus
  • Congenital hip dislocation
  • Narrow mouth
  • Round face

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

501

501 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=3967) is 59.

501 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).

343 in the last 10 years · low confidence

Phrase hits: 40 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

426

Distinct author names in 40 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
    Wang Y4 papers · 2024

    Laboratory for Novel Sequencing Technology, Functional and Medical Genomics, Berlin Institute for Medical Systems Biology, Max-Delbrueck-Center for Molecular Medicine, Berlin, Germany.

    Papers in Europe PMC
  2. 02
    Li J3 papers · 2024

    Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, China.

    Papers in Europe PMC
  3. 03
    Li Y3 papers · 2025

    Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

    Papers in Europe PMC
  4. 04
    Ahangari N2 papers · 2023

    Innovative Medical Research Center, Faculty of Medicine, Mashhad Medical Science, Islamic Azad University, Mashhad, Iran.

    Papers in Europe PMC
  5. 05
    Alkuraya FS2 papers · 2025

    Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  6. 06
    Barnett CP2 papers · 2015

    Paediatric and Reproductive Genetics Unit, South Australia Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, 5006, , SA, Australia. christopher.barnett@health.sa.gov.au.

    Papers in Europe PMC
  7. 07
    Davis MR2 papers · 2015

    Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. mark.davis@health.wa.gov.au.

    Papers in Europe PMC
  8. 08
    Doosti M2 papers · 2023

    Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.

    Papers in Europe PMC
  9. 09
    Gholampour-Faroji N2 papers · 2023

    Biotechnology Department, Iranian Research Organization for Science and Technology (IROST), Tehran, Iran.

    Papers in Europe PMC
  10. 10
    Girisha KM2 papers · 2025

    Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.

    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 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.

low 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.

Broader category distal arthrogryposis also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: distal arthrogryposis

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. 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 2026-07-30

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 Distal arthrogryposis type 5D — 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.

("Distal arthrogryposis type 5D" OR "Distal arthrogryposis type 5 without ophthalmoplegia" OR "Distal arthrogryposis type 5 without ophthalmoparesis" OR "ECEL1 distal arthrogryposis" OR "distal arthrogryposis caused by mutation in ECEL1") OR ("ECEL1" OR "ECEL1 syndrome" OR "ECEL1-related")

Run this search on Europe PMC

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

"Distal arthrogryposis type 5D" OR "Distal arthrogryposis type 5 without ophthalmoplegia" OR "Distal arthrogryposis type 5 without ophthalmoparesis" OR "ECEL1 distal arthrogryposis" OR "distal arthrogryposis caused by mutation in ECEL1"

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

Parent-category trials query:

"distal arthrogryposis"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: DA5D

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
  • Publication count (501) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:53:08.390Z