Kearns-sayre Syndrome

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Kearns-sayre Syndrome

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness
  • Muscular hypotonia

And another 90 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available KEARNS-SAYRE SYNDROME have a estimated prevalence of 2 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Kearns-sayre Syndrome Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy, cpeo with myopathy, oculocraniosomatic syndrome, ophthalmoplegia, progressive external, with ragged-red fibers, cpeo with ragged-red fibers, chronic progressive external ophthalmoplegia wi.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Kearns-sayre Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Evaluation (TYMP, RRM2B, MELAS).

By Athena Diagnostics Inc (United States).

RRM2B, TYMP, MT-TL1
Specificity
67 %
Genes
34 %
Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS).

By Athena Diagnostics Inc (United States).

SLC25A4, TWNK, MT-TL1, OPA1, POLG
Specificity
20 %
Genes
17 %
Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP).

By Athena Diagnostics Inc (United States).

MT-TK, MT-TL1, POLG
Specificity
34 %
Genes
17 %
MELAS mtDNA Evaluation.

By Athena Diagnostics Inc (United States).

MT-TL1
Specificity
100 %
Genes
17 %
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke.

By Center for Human Genetics, Inc (United States).

MT-TL1
Specificity
100 %
Genes
17 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
17 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
2 %
Genes
50 %
Mitochondrial Genome Sequence.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
34 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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