ORPHA:53696
Arthrogryposis-anterior horn cell disease syndrome
Also known as: AAHD · Vuopala disease
Publications
847
Trials
0
Interventional, condition-specific
Researchers
299
Distinct authors in sample
Gene link
GLE1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare arthrogryposis syndrome characterized by the association of arthrogryposis multiplex congenita and a severe form of motor neuron disease with loss of anterior horn cells in the spinal cord. Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies, such as low-set ears, hypoplastic jaw, and short neck, as well as and respiratory insufficiency. Some patients may survive into childhood and show , markedly decreased muscle bulk, dystonic and involuntary movements, , and poor speech.
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:0012750
- MeSH:C567502
- OMIM:611890
- UMLS:C5193016
Additional Mondo synonyms (2)
LAAHD · congenital arthrogryposis with anterior horn cell disease
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.
- Gene identifiedPresent
Definitive — GLE1
- LiteraturePresent
847 matched papers (497 in last 10 years) Source
- Phenotype characterisedPresent
40 HPO annotations (e.g. Mutism; Prominent forehead; Respiratory failure) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (GLE1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
40
Associated phenotypes · MONDO:0012750
- Mutism
- Prominent forehead
- Respiratory failure
- Fetal akinesia sequence
- High palate
Showing 5 of 40 — 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?
847
847 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.
847 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).
497 in the last 10 years · low confidence
Phrase hits: 46 · MeSH hits: 2
Who's working on it?
299
Distinct author names in 46 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.
- 01Wente SR5 papers · 2017
Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232.
Papers in Europe PMC - 02Hinttala R4 papers · 2025
Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital and University of Oulu, 90014 Oulu, Finland.
Papers in Europe PMC - 03Kuure S4 papers · 2025
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.
Papers in Europe PMC - 04Aditi3 papers · 2017
Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232.
Papers in Europe PMC - 05Denecke J3 papers · 2019
Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 06Folkmann AW3 papers · 2015
Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232.
Papers in Europe PMC - 07Hempel M3 papers · 2019
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 08Kubisch C3 papers · 2019
Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 09Lessel D3 papers · 2019
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 10Sipilä P3 papers · 2025
Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20014 Turku, Finland.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 Arthrogryposis-anterior horn cell disease syndrome — check Associations / patient organisations on that page.
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.
("Arthrogryposis-anterior horn cell disease syndrome" OR "Vuopala disease" OR "LAAHD" OR "congenital arthrogryposis with anterior horn cell disease") OR (MESH:"Lethal Arthrogryposis With Anterior Horn Cell Disease") OR ("GLE1" OR "GLE1 syndrome" OR "GLE1-related")MeSH descriptor terms unioned into the query: Lethal Arthrogryposis With Anterior Horn Cell Disease
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Arthrogryposis-anterior horn cell disease syndrome" OR "Vuopala disease" OR "LAAHD" OR "congenital arthrogryposis with anterior horn cell disease" OR "Lethal Arthrogryposis With Anterior Horn Cell Disease"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AAHD
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 (847) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T00:53:35.830Z