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GENATLAS PHENOTYPE

last update : 17-08-2009

Symbol	KSS
Location	mt
HGNC id	6466
Name	Kearns-Sayre syndrome
Other name(s)	ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy oculocraniosomatic syndrome ophthalmoplegia-plus syndrome
Corresponding gene	MT-ATP8
related resource	Retinal Information Network
Other symbol(s)	KS
Main clinical features	multisystemic disorder, characterized by an ophthalmoplegia and retinitis pigmentosa, associated with ataxia, heart block, high CSF protein level, diabetes mellitus or other endocrinopathy, i.e. hypoparathyroidism, including familial chilhood onset liver and renal failure and peripheral sensorimotor neuropathy
Genetic determination	mitochondrial
Function/system disorder	eye
	neurology
Type	disease

Gene product

Name	. deletion OH+, OL+ type, 2905nt deletion . deletion 4977 bp mtDNA

Remark(s)

mutation in MT-ATP8 resulting in an improper assembly and reduced activity of the complex V holoenzyme