ORPHA:69739
Athabaskan brainstem dysgenesis syndrome
Also known as: ABSD · Athabascan brainstem dysgenesis syndrome · Navajo brainstem syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
92
54.3th percentile
Trials
0
Interventional, condition-specific
Researchers
509
Distinct authors in sample
Gene link
HOXA1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, , and , described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, , internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No facial features are associated.
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:0011099
- OMIM:601536
- UMLS:C1832215
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.”
2/6 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 — HOXA1
- LiteraturePresent
92 matched papers (53 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 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 (HOXA1).
GenCC classification: Definitive.
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?
92
92 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=5449) is 41.
92 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).
53 in the last 10 years · medium confidence · 54.3th percentile (publications denominator)
Phrase hits: 92 · MeSH hits: 0
Who's working on it?
509
Distinct author names in 92 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.
- 01Engle EC6 papers · 2021
Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA. Electronic address: elizabeth.engle@childrens.harvard.edu.
Papers in Europe PMC - 02Bowszyc-Dmochowska M4 papers · 2021
Cutaneous Histopathology and Immunopathology Section, Department of Dermatology, Poznan University of Medical Sciences, Poznan, Poland.
Papers in Europe PMC - 03Capecchi MR4 papers · 2017
Department of Human Genetics, University of Utah, Salt Lake City, UT, United States of America.
Papers in Europe PMC - 04Dmochowski M4 papers · 2021
Autoimmune Blistering Dermatoses Section, Department of Dermatology, Poznan University of Medical Sciences, Poznan, Poland.
Papers in Europe PMC - 05Gornowicz-Porowska J4 papers · 2021
Autoimmune Blistering Dermatoses Section, Department of Dermatology, Poznan University of Medical Sciences, Poznan, Poland.
Papers in Europe PMC - 06Bosley TM3 papers · 2016
Neuro-ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. Bosley-Thomas@cooperhealth.edu
Papers in Europe PMC - 07Kaczmarek E3 papers · 2021
Department of Bioinformatics and Computational Biology, Poznan University of Medical Sciences, Poznan, Poland.
Papers in Europe PMC - 08Makki N3 papers · 2012
Department of Human Genetics, Howard Hughes Medical Institute, University of Utah, Salt Lake City, UT, USA.
Papers in Europe PMC - 09Seraszek-Jaros A3 papers · 2021
Department of Bioinformatics and Computational Biology, Poznan University of Medical Sciences, Poznan, Poland.
Papers in Europe PMC - 10Tischfield MA3 papers · 2016
Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Athabaskan brainstem dysgenesis syndrome" OR "Athabascan brainstem dysgenesis syndrome" OR "Navajo brainstem syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Athabaskan brainstem dysgenesis syndrome" OR "Athabascan brainstem dysgenesis syndrome" OR "Navajo brainstem syndrome" OR "HOXA1"
Recall-expansion terms: HOXA1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: ABSD
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 2026-07-27T01:30:05.009Z