Details of Disease | DrugMAP

General Information of Disease (ID: DIS9UK5R)

Disease Name	Kearns-Sayre syndrome
Synonyms	ophthalmoplegia-plus syndrome; CPEO with ragged red fibres; mitochondrial Cytopathy; ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy; oculocraniosomatic syndrome; chronic progressive external ophthalmoplegia with myopathy; CPEO with ragged-Red fibres; CPEO with myopathy; KSS; ophthalmoplegia, progressive external, with ragged-Red fibers; CPEO with ragged red fibers; ophthalmoplegia plus syndrome; ophthalmoplegia, progressive external, with ragged-Red fibres; CPEO with ragged-Red fibers; ophthalmoplegia, progressive external, with ragged red fibres; ophthalmoplegia, progressive external, with ragged red fibers; Kearns Sayre Syndrome; Kearns-Sayre syndrome
Definition	Kearns-Sayre syndrome (KSS) is a mitochondrial disease 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.
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DIS6SVEE: Syndromic disease DIS2BIP8: Congenital nervous system disorder DISBHDU9: Familial dilated cardiomyopathy DISX4ATI: Progressive external ophthalmoplegia DISQ1B1S: Disorder of visual system DISK7IP8: Mitochondrial oxidative phosphorylation disorder DIS9UK5R: Kearns-Sayre syndrome
Disease Identifiers	MONDO ID MONDO_0010787 MESH ID D007625 UMLS CUI C0022541 OMIM ID 530000 MedGen ID 9618 Orphanet ID 480 SNOMED CT ID 25792000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SGSH	TTPJ2SH	Limited	Biomarker	[1]
IL1A	TTPM6HI	Strong	Biomarker	[2]
SLC25A4	TTU5A6Q	Strong	Altered Expression	[3]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATXN7	OTL3YF1H	Limited	Biomarker	[4]
CALB1	OTM7IXDG	Limited	Biomarker	[5]
PANK2	OTFBW889	Limited	Biomarker	[1]
RRM2B	OTE8GBUR	Supportive	Autosomal recessive	[6]
COQ8A	OT1ETSA2	Strong	Genetic Variation	[7]
PRPF6	OT3U0ABN	Strong	Altered Expression	[3]
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⏷ Show the Full List of 6 DOT(s)

References

1	Computed tomography evaluation of total knee arthroplasty implants position after two different surgical methods of implantation.Int Orthop. 2019 Jan;43(1):139-149. doi: 10.1007/s00264-018-4180-8. Epub 2018 Oct 2.
2	Cytokine expression in the muscle of HIV-infected patients: evidence for interleukin-1 alpha accumulation in mitochondria of AZT fibers. Ann Neurol. 1994 Nov;36(5):752-8. doi: 10.1002/ana.410360511.
3	Mitochondrial DNA expression in mitochondrial myopathies and coordinated expression of nuclear genes involved in ATP production.J Biol Chem. 1993 Jun 5;268(16):12156-63.
4	Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable.J Neurol Sci. 2008 Jan 15;264(1-2):173-6. doi: 10.1016/j.jns.2007.07.023. Epub 2007 Aug 27.
5	Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome.J Neurol Sci. 1999 Jun 15;166(1):64-70. doi: 10.1016/s0022-510x(99)00114-8.
6	Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. J Med Genet. 2011 Sep;48(9):610-7. doi: 10.1136/jmg.2010.088328. Epub 2011 Mar 4.
7	Movement disorders in mitochondrial diseases.Rev Neurol (Paris). 2016 Aug-Sep;172(8-9):524-529. doi: 10.1016/j.neurol.2016.07.003. Epub 2016 Jul 28.