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KSS
MCID: KRN002
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Kearns-sayre Syndrome malady |
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Sources: 30NIH Rare Diseases, 31NINDS, 17Genetics Home Reference, 22MalaCards See all sources Export this MalaCard |
NINDS: Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It is the result
of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy
that drives cellular functions. The mitochondrial diseases correlate with specific DNA mutations that cause problems with
many of the organs and tissues in the body. KSS is characterized by progressive limitation of eye movements until there is
complete immobility, accompanied by eyelid droop. It is also associated with abnormal accumulation of pigmented material on
the membrane lining the eyes. Additional symptoms may include mild skeletal muscle weakness, heart block (a cardiac conduction
defect), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function,
and diabetes. Seizures are infrequent. Several endocrine disorders can be associated with KSS.31
MalaCards: Kearns-sayre Syndrome, also known as KSS, is related to chronic progressive external ophthalmoplegia and mitochondrial encephalomyopathy. An important gene associated with Kearns-sayre Syndrome is KSS (Kearns-Sayre syndrome), and among its related pathways are Cardiac muscle contraction and Alzheimers disease. The compounds meloxicam and naproxen have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and spinal cord. NIH Rare Diseases: Kearns-Sayre syndrome (KSS) is a neuromuscular disorder defined by the triad of onset before age 20 years, pigmentary retinopathy (a "salt-and-pepper" pigmentation in the retina that can affect vision, but often leaves it intact), and progressive external ophthalmoplegia (PEO). In addition, affected individuals have at least one of the following: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dL, or cerebellar ataxia. Kearns-Sayre syndrome is a mitochondrial DNA (mtDNA) deletion syndrome. It results from abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. This and other mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body, resulting in multisystem effects. Treatment for this slowly progressive disorder is generally symptomatic and supportive.30 Genetics Home Reference: Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and causes drooping eyelids (ptosis). Affected individuals also have an eye condition called pigmentary retinopathy, which results from breakdown (degeneration) of the light-sensing tissue at the back of the eye (the retina) that gives it a speckled and streaked appearance. The retinopathy may cause loss of vision. In addition, people with Kearns-Sayre syndrome have at least one of the following signs or symptoms: abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects), problems with coordination and balance that cause unsteadiness while walking (ataxia), or abnormally high levels of protein in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF).17 |
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 31NINDS, 8DISEASES, 32Novoseek , 43UMLS, 40SNOMED-CT, 33OMIM, 27NCIt, 24MeSH See all sources |
Aliases & Descriptions:
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for kearns-sayre syndrome Drug clinical trials:Search ClinicalTrials for kearns-sayre syndrome Search NIH Clinical Center for kearns-sayre syndrome Search CenterWatch for kearns-sayre syndrome |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to kearns-sayre syndrome:22Brain, Retina, Spinal cord, Heart, Skeletal muscle
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Sources: 35PubMed See all sources |
Articles related to kearns-sayre syndrome:
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Sources: 1BioGPS See all sources |
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Sources: 20KEGG, 38Reactome See all sources |
Pathways related to kearns-sayre syndrome according to GeneDecks:
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Sources: 32Novoseek , 9DrugBank, 18HMDB See all sources |
Compounds related to kearns-sayre syndrome according to GeneDecks:(show all 22)
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