Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
syndrome
mitochondrial disease |
| gptkbp:affects |
heart
mitochondria eyes muscles |
| gptkbp:alsoKnownAs |
gptkb:KSS
|
| gptkbp:causedBy |
mitochondrial DNA deletion
|
| gptkbp:characterizedBy |
gptkb:progressive_external_ophthalmoplegia
cardiac conduction defects pigmentary retinopathy |
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
1958
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Kearns–Sayre syndrome
|
| gptkbp:inheritance |
usually sporadic
|
| gptkbp:namedAfter |
George Pomeroy Sayre
Thomas P. Kearns |
| gptkbp:OMIM |
530000
|
| gptkbp:onset |
before age 20
|
| gptkbp:symptom |
gptkb:diabetes_mellitus
short stature muscle weakness hearing loss ataxia ptosis endocrine dysfunction |
| gptkbp:treatment |
symptomatic management
cardiac pacemaker |
| gptkbp:bfsParent |
gptkb:Abraham_Kornzweig
|
| gptkbp:bfsLayer |
6
|