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atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

MONDO:0008843

Also known as:Feigenbaum-Bergeron-Richardson syndromeatherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic diseasepremature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder

Overview

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, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial 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.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Diabetes mellitus, Kidney disease (nephropathy), Inner ear hearing loss (sensorineural hearing impairment), and Abnormal cerebellum morphology and 5 more.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	3	Kidney disease (nephropathy), Protein in the urine (proteinuria), Renal artery stenosis

Diagnosis

Biomarker and diagnostic research for atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome.

201 publications have been identified in PubMed for atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome. Research spans Review / Meta-Analysis (61%), Basic Science / Preclinical (12%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Research summaries	106	61%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:209010

Orphanet

European rare disease database

Orphanet:1192

GARD

Genetic and Rare Diseases Info Center

GARD:2279

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Mechanistic Study of Platelet Membrane-Coated Resveratrol Nanosystem in Mitochondrial Dysfunction and Endothelial Senescence During Atherosclerotic Lesion Development via FOXM1 Activation.

Lipid clinics worldwide: harmonization and guidance on how to optimally organize and fund. European Atherosclerosis Society consensus statement across 55 countries and more than 500 lipid clinics.

Atherosclerosis Profiling Reveals BHLHE40 as a Candidate Modulator of VSMC.

atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Mechanistic Study of Platelet Membrane-Coated Resveratrol Nanosystem in Mitochondrial Dysfunction and Endothelial Senescence During Atherosclerotic Lesion Development via FOXM1 Activation.

Lipid clinics worldwide: harmonization and guidance on how to optimally organize and fund. European Atherosclerosis Society consensus statement across 55 countries and more than 500 lipid clinics.

Atherosclerosis Profiling Reveals BHLHE40 as a Candidate Modulator of VSMC.