loading...| Preferred Name |
Kearns-Sayre Syndrome |
| Synonyms |
Cytopathy, Kearn-Sayre Mitochondrial |
| Definitions |
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) |
| ID |
http://purl.bioontology.org/ontology/MESH/D007625 |
| altLabel |
Cytopathy, Kearn-Sayre Mitochondrial Syndrome, Kearns' Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Kearn-Sayre Mitochondrial Cytopathy CPEO with Myopathy Ophthalmoplegia Plus Syndrome Kearns Sayre Shy Daroff Syndrome Syndrome, Oculocraniosomatic Syndrome, Kearns Kearn Sayre Mitochondrial Cytopathy Ophthalmoplegia Plus Syndromes Myopathies, CPEO with Kearns Syndrome Kearns-Sayre-Shy-Daroff Syndrome Kearn Syndrome CPEO with Myopathies Syndrome, Kearns Sayre Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy Myopathy, CPEO with Syndrome, Kearns-Sayre-Shy-Daroff Chronic Progressive External Ophthalmoplegia with Myopathy Oculocraniosomatic Syndrome Oculocraniosomatic Syndromes Syndrome, Ophthalmoplegia Plus Syndrome, Kearns-Sayre Kearns' Syndrome Mitochondrial Cytopathy, Kearn-Sayre Kearns Sayre Syndrome Kearns-Sayre Mitochondrial Cytopathy CPEO with Ragged Red Fibers Sayre Syndrome, Kearns Ophthalmoplegia-Plus Syndrome |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0022541 |
| DC |
1 |
| 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) |
| DX |
19910101 |
| HN |
2010 (1983) |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D029242 http://purl.bioontology.org/ontology/MESH/D015324 http://purl.bioontology.org/ontology/MESH/D002312 http://purl.bioontology.org/ontology/MESH/D002598 http://purl.bioontology.org/ontology/MESH/D058088 http://purl.bioontology.org/ontology/MESH/D019571 http://purl.bioontology.org/ontology/MESH/D054069 http://purl.bioontology.org/ontology/MESH/D029241 http://purl.bioontology.org/ontology/MESH/D002313 http://purl.bioontology.org/ontology/MESH/D020165 http://purl.bioontology.org/ontology/MESH/D007888 http://purl.bioontology.org/ontology/MESH/D002311 http://purl.bioontology.org/ontology/MESH/D030401 http://purl.bioontology.org/ontology/MESH/D058065 http://purl.bioontology.org/ontology/MESH/D015325 http://purl.bioontology.org/ontology/MESH/D015428 http://purl.bioontology.org/ontology/MESH/D052120 http://purl.bioontology.org/ontology/MESH/D052245 http://purl.bioontology.org/ontology/MESH/D017240 http://purl.bioontology.org/ontology/MESH/D004695 http://purl.bioontology.org/ontology/MESH/D004719 http://purl.bioontology.org/ontology/MESH/D009205 |
| Machine permutation |
2010; see KEARNS-SAYER SYNDROME 2000-2009, see KEARNS SYNDROME 1991-2004, see OPHTHALMOPLEGIA 1983-1990 |
| Mapped from | |
| MDA |
19820426 |
| MMR |
20150622 |
| MN |
C11.590.472.250.500 C18.452.660.410 C10.668.491.500.700.500 C23.888.592.636.447.511.500 C11.768.585.658.500.627 C18.452.660.560.700.500 C10.292.562.750.250.500 C14.280.238.510 C10.597.622.447.511.500 C05.651.460.700.500 |
| notation |
D007625 |
| prefLabel |
Kearns-Sayre Syndrome |
| TERMUI |
T751601 T811674 T811675 T753183 T751602 T022909 T781857 T022907 T370645 T781856 T022908 T781855 T811676 T841821 T751603 T751604 |
| TH |
UNK (19XX) NLM (1990) NLM (2000) NLM (2010) NLM (1983) NLM (2012) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D009202 http://purl.bioontology.org/ontology/MESH/D017246 |