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Kearns-Sayre syndrome

1 OMIM reference -
3 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Combined cervical dystonia

1 associated gene
No signs/symptoms info

Kearns-Sayre syndrome

Combined cervical dystonia

MT-ATP8	(UniProt - OMIM)		ATM	(UniProt - OMIM)
MT-TL1	(OMIM)
RRM2B	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RRM2B	(0.72)	ATM

Citations in the biomedical literature:

Kearns-Sayre syndrome		Combined cervical dystonia

	Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: young adult Type of inheritance: mitochondrial inheritance		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: D007625		External references: No OMIM references No MeSH references

Kearns-Sayre syndrome
	Very frequent - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Retinitis pigmentosa / retinal pigmentary changes Frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Areflexia / hyporeflexia - Ataxia / incoordination / trouble of the equilibrium - Hearing loss / hypoacusia / deafness - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Hypotonia - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Short stature / dwarfism / nanism Occasional - Delayed bone age - Hemiplegia / diplegia / hemiparesia / limb palsy
Combined cervical dystonia
(no data available)