loading...| Preferred Name |
Kearns-Sayre syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_480 |
| definition |
A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 |
| has_age_of_onset |
Adult Adolescent Childhood Infancy |
| has_inheritance |
Mitochondrial inheritance Autosomal recessive Not applicable |
| hasDbXref |
MedDRA:10048804 MeSH:D007625 ICD-11:9C82.0 ICD-10:H49.8 OMIM:530000 UMLS:C0022541 |
| label |
Kearns-Sayre syndrome |
| notation |
ORPHA:480 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_522522 http://www.orpha.net/ORDO/Orphanet_254767 http://www.orpha.net/ORDO/Orphanet_206966 http://www.orpha.net/ORDO/Orphanet_225703 http://www.orpha.net/ORDO/Orphanet_98661 http://www.orpha.net/ORDO/Orphanet_68385 http://www.orpha.net/ORDO/Orphanet_225700 http://www.orpha.net/ORDO/Orphanet_519347 |
| prefixIRI |
ORDO:Orphanet_480 |
| prefLabel |
Kearns-Sayre syndrome |
| present_in |
Israel AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_522522 http://www.orpha.net/ORDO/Orphanet_254767 http://www.orpha.net/ORDO/Orphanet_206966 http://www.orpha.net/ORDO/Orphanet_225703 http://www.orpha.net/ORDO/Orphanet_98661 http://www.orpha.net/ORDO/Orphanet_68385 http://www.orpha.net/ORDO/Orphanet_225700 http://www.orpha.net/ORDO/Orphanet_519347 |
| subClassOf |