Cytoscape Web
Click node...

Kearns-Sayre syndrome
1 OMIM reference -
3 associated genes
22 connected diseases
14 signs/symptoms
Disease Type of connection
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Autosomal dominant progressive external ophthalmoplegia
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial neurogastrointestinal encephalomyopathy
B-cell chronic lymphocytic leukemia
Adrenocortical carcinoma
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Mantle cell lymphoma
Hereditary sensory and autonomic neuropathy type 2
Hyper-IgM syndrome type 2
Pseudohypoaldosteronism type 2C
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: young adult
Type of inheritance: mitochondrial inheritance
External references:
1 OMIM reference -
1 MeSH reference: D007625
Gene symbol UniProt reference OMIM reference
MT-ATP8 P03928516070
MT-TL1 590050
RRM2B Q7LG56604712
Very frequent
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Areflexia / hyporeflexia
- Ataxia / incoordination / trouble of the equilibrium
- Hearing loss / hypoacusia / deafness
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Hypotonia
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Short stature / dwarfism / nanism

Occasional
- Delayed bone age
- Hemiplegia / diplegia / hemiparesia / limb palsy