ORPHA:1192
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Also known as: Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome · Feigenbaum-Bergeron-Richardson syndrome
Publications
2
7th percentile
Trials
0
Interventional, condition-specific
Researchers
12
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, neurological deterioration with cerebellar symptoms and photomyoclonic , and nephropathy. Partial deficiency of complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.
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:0008843
- MeSH:C565928
- OMIM:209010
- UMLS:C1859596
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2 matched papers (1 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
2
2 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.
2 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).
1 in the last 10 years · high confidence · 7th percentile (publications denominator)
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
12
Distinct author names in 2 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.
- 01Claussen ER1 paper · 2025
Department of Biological Sciences, University of Illinois at Chicago, Chicago, IL, 60607, USA.
Papers in Europe PMC - 02Drew K1 paper · 2025
Department of Biological Sciences, University of Illinois at Chicago, Chicago, IL, 60607, USA. ksdrew@uic.edu.
Papers in Europe PMC - 03Fischer SN1 paper · 2025
Department of Biological Sciences, University of Illinois at Chicago, Chicago, IL, 60607, USA.
Papers in Europe PMC - 04Hermjakob H1 paper · 2025
European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Papers in Europe PMC - 05Kourtis S1 paper · 2025
Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
Papers in Europe PMC - 06Kustatscher G1 paper · 2025
Centre for Cell Biology, University of Edinburgh, Edinburgh, EH9 3BF, UK.
Papers in Europe PMC - 07Molloy PL1 paper · 2015
CSIRO Food and Nutrition Flagship, North Ryde, New South Wales, Australia.
Papers in Europe PMC - 08Orchard S1 paper · 2025
European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Papers in Europe PMC - 09Osmond-McLeod MJ1 paper · 2015
CSIRO Food and Nutrition Flagship, North Ryde, New South Wales, Australia CSIRO Advanced Materials TCP (Nanosafety), North Ryde, New South Wales, Australia.
Papers in Europe PMC - 10Sdelci S1 paper · 2025
Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
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.
high 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.
"Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome" OR "Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome" OR "Feigenbaum-Bergeron-Richardson syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome" OR "Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome" OR "Feigenbaum-Bergeron-Richardson syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T16:38:37.899Z