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Disease Kearns-Sayre Syndrome

Name Kearns-Sayre Syndrome
Synonyms Chronic Progressive External Ophthalmoplegia with Myopathy | CPEO with Myopathies | CPEO with Myopathy | Cpeo With Ragged-Red Fibers | CPEO with Ragged Red Fibers | Cytopathy, Kearn-Sayre Mitochondrial | Kearn Sayre Mitochondrial Cytopathy | Kearn-Sayre Mitochondrial Cytopathy | Kearns-Sayre Mitochondrial Cytopathy | Kearns Sayre Shy Daroff Syndrome | Kearns-Sayre-Shy-Daroff Syndrome | Kearns Sayre Syndrome | Kearns Syndrome | Kearns' Syndrome | Kearn Syndrome | KSS | MITOCHONDRIAL CYTOPATHY | Mitochondrial Cytopathy, Kearn-Sayre | Myopathies, CPEO with | Myopathy, CPEO with | Oculocraniosomatic Syndrome | Oculocraniosomatic Syndromes | Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy | Ophthalmoplegia Plus Syndrome | Ophthalmoplegia-Plus Syndrome | Ophthalmoplegia Plus Syndromes | Ophthalmoplegia, Progressive External, With Ragged-Red Fibers | Sayre Syndrome, Kearns | Syndrome, Kearns | Syndrome, Kearns' | Syndrome, Kearns Sayre | Syndrome, Kearns-Sayre | Syndrome, Kearns-Sayre-Shy-Daroff | Syndrome, Oculocraniosomatic | Syndrome, Ophthalmoplegia Plus
Definition A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
Categories Cardiovascular disease | Eye disease | Metabolic disease | Musculoskeletal disease | Nervous system disease | Signs and symptoms
MeSH® ID D007625
OMIM® ID 530000
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Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Muscular Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Mitochondrial Myopathies Has associated chemicals Has associated genes Has associated phenotype references Ophthalmoplegia, Chronic Progressive External Has associated chemicals Has associated genes Has associated phenotype references Kearns-Sayre Syndrome Has associated chemicals Has associated genes Has associated phenotype references
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Cranial Nerve Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Ocular Motility Disorders Has associated chemicals Has associated genes Has associated phenotype references Ophthalmoplegia Has associated chemicals Has associated genes Has associated phenotype references Ophthalmoplegia, Chronic Progressive External Has associated chemicals Has associated genes Has associated phenotype references Kearns-Sayre Syndrome Has associated chemicals Has associated genes Has associated phenotype references
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Paralysis Has associated chemicals Has associated genes Has associated phenotype references Ophthalmoplegia Has associated chemicals Has associated genes Has associated phenotype references Ophthalmoplegia, Chronic Progressive External Has associated chemicals Has associated genes Has associated phenotype references Kearns-Sayre Syndrome Has associated chemicals Has associated genes Has associated phenotype references
4. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Neuromuscular Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Muscular Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Mitochondrial Myopathies Has associated chemicals Has associated genes Has associated phenotype references Ophthalmoplegia, Chronic Progressive External Has associated chemicals Has associated genes Has associated phenotype references Kearns-Sayre Syndrome Has associated chemicals Has associated genes Has associated phenotype references
5. DiseasesEye Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Ocular Motility Disorders Has associated chemicals Has associated genes Has associated phenotype references Ophthalmoplegia Has associated chemicals Has associated genes Has associated phenotype references Ophthalmoplegia, Chronic Progressive External Has associated chemicals Has associated genes Has associated phenotype references Kearns-Sayre Syndrome Has associated chemicals Has associated genes Has associated phenotype references
6. DiseasesEye Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Retinal Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Retinal Degeneration Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Retinal Dystrophies Has associated chemicals Has associated genes Has associated phenotype references Retinitis Pigmentosa Has associated chemicals Has associated genes Has associated phenotype references Kearns-Sayre Syndrome Has associated chemicals Has associated genes Has associated phenotype references
7. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Heart Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Cardiomyopathies Has associated chemicals Has associated genes Has associated phenotype references Kearns-Sayre Syndrome Has associated chemicals Has associated genes Has associated phenotype references
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Mitochondrial Diseases Has associated chemicals Has associated genes Has associated phenotype references Kearns-Sayre Syndrome Has associated chemicals Has associated genes Has associated phenotype references
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Mitochondrial Diseases Has associated chemicals Has associated genes Has associated phenotype references Mitochondrial Myopathies Has associated chemicals Has associated genes Has associated phenotype references Ophthalmoplegia, Chronic Progressive External Has associated chemicals Has associated genes Has associated phenotype references Kearns-Sayre Syndrome Has associated chemicals Has associated genes Has associated phenotype references
10. DiseasesPathological Conditions, Signs and Symptoms Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Signs and Symptoms Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Paralysis Has associated chemicals Has associated genes Has associated phenotype references Ophthalmoplegia Has associated chemicals Has associated genes Has associated phenotype references Ophthalmoplegia, Chronic Progressive External Has associated chemicals Has associated genes Has associated phenotype references Kearns-Sayre Syndrome Has associated chemicals Has associated genes Has associated phenotype references

Top ↑ Descendants

Kearns-Sayre Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Mitochondrial cytopathy Has associated chemicals Has associated genes Has associated phenotype references