Kearns-Sayre syndrome
- Synonyms
- CPEO with ragged red fibers; Chronic progressive external ophthalmoplegia with myopathy; Chronic progressive external ophthalmoplegia with myopathy, somatic; Oculocraniosomatic syndrome; Ophthalmoplegia plus syndrome; Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy; Ophthalmoplegia, progressive external, with ragged red fibers
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Mitochondrial inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Amy Goldstein
- Marni J Falk
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Sideroblastic anemia
Sideroblastic anemia
- MedGen UID: 8067
- Concept ID: C0002896
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Sideroblastic anemia
- Abnormality of metabolism/homeostasis
- Diabetes mellitus
Diabetes mellitus
- MedGen UID: 8350
- Concept ID: C0011849
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Lactic acidosis
Lactic acidosis
- MedGen UID: 1717
- Concept ID: C0001125
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Renal tubular acidosis
Renal tubular acidosis
- MedGen UID: 90
- Concept ID: C0001126
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Diabetes mellitus
- Abnormality of the cardiovascular system
- Cardiac arrhythmia
Cardiac arrhythmia
- MedGen UID: 2039
- Concept ID: C0003811
- Finding: Finding
Abnormality of the cardiovascular system
- Cardiomyopathy
Cardiomyopathy
- MedGen UID: 209232
- Concept ID: C0878544
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Third degree atrioventricular block
Third degree atrioventricular block
- MedGen UID: 56230
- Concept ID: C0151517
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cardiac arrhythmia
- Abnormality of the endocrine system
- Hypoparathyroidism
Hypoparathyroidism
- MedGen UID: 6985
- Concept ID: C0020626
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Primary adrenal insufficiency
Primary adrenal insufficiency
- MedGen UID: 854614
- Concept ID: C3887896
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypoparathyroidism
- Abnormality of the eye
- Pigmentary retinopathy
Pigmentary retinopathy
- MedGen UID: 1643295
- Concept ID: C4551715
- Finding: Disease or Syndrome
Abnormality of the eye
- Progressive external ophthalmoplegia
Progressive external ophthalmoplegia
- MedGen UID: 102439
- Concept ID: C0162674
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Pigmentary retinopathy
- Abnormality of the genitourinary system
- Renal Fanconi syndrome
Renal Fanconi syndrome
- MedGen UID: 137960
- Concept ID: C0341703
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal Fanconi syndrome
- Abnormality of the musculoskeletal system
- Basal ganglia calcification
Basal ganglia calcification
- MedGen UID: 234651
- Concept ID: C1389280
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Ragged-red muscle fibers
Ragged-red muscle fibers
- MedGen UID: 477048
- Concept ID: C3275417
- Finding: Finding
Abnormality of the musculoskeletal system
- Basal ganglia calcification
- Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dementia
Dementia
- MedGen UID: 99229
- Concept ID: C0497327
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Increased CSF protein concentration
Increased CSF protein concentration
- MedGen UID: 329971
- Concept ID: C1806780
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Sensory neuropathy
Sensory neuropathy
- MedGen UID: 101791
- Concept ID: C0151313
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar ataxia
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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