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Leigh syndrome

VariableMitochondrialAutosomal RecessiveAutosomal DominantDe NovoX-LinkedGeneralOMIM 500015

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Overview

From WUSTL Neuromuscular

Features Clinical Laboratory Types Causes of Leigh-like Syndrome 3 Defect Frequency (%) mtDNA mutation18-34 PDHc10 Complex I25 Complex IV14 Complex II or III 5 CoQ10 2 Other 26 From: R Bucelli From: R Bucelli Nosology: Subacute necrotizing encephalomyelopathy Epidemiology: Prevalence 1:30,000 to 1:40,000 Leigh syndrome: Genetics Multiple causes Clinical spectrum with NARP Leigh syndrome: Clinical features Onset age Usual: 1st 2 years; Most common from 3 to 12 months Occasionally: Later childhood or Adult Prodrome: Infection or illness, after initially normal development Hypotonia Episodic Vomi

Associated Genes

leucine rich pentatricopeptide repeat containing

Other genes: NDUFA9, NDUFA2

OMIM Entries

OMIM #500015 OMIM #516060 OMIM #500011 OMIM #194200 OMIM #516001 OMIM #516005 OMIM #516006 OMIM #516050 OMIM #220110 OMIM #185620 OMIM #616684 OMIM #220111 OMIM #607544 OMIM #619052 OMIM #612958 OMIM #619055 OMIM #614770 OMIM #604813 OMIM #252010 OMIM #618247 OMIM #603834 OMIM #618230 OMIM #603846 OMIM #618222 OMIM #602141 OMIM #618224 OMIM #601825 OMIM #618225 OMIM #161015 OMIM #203450 OMIM #618251 OMIM #615534 OMIM #618239 OMIM #612392 OMIM #618243 OMIM #603835 OMIM #618241 OMIM #613622 OMIM #618235 OMIM #602137 OMIM #618244 OMIM #614530 OMIM #618252 OMIM #602140 OMIM #618776 OMIM #618461 OMIM #619170 OMIM #603845 OMIM #600857 OMIM #619259 OMIM #252011 OMIM #256000 OMIM #613642 OMIM #613559 OMIM #613541 OMIM #615035 OMIM #614947 OMIM #611766 OMIM #618248 OMIM #617664 OMIM #611994 OMIM #608732 OMIM #608770 OMIM #246900 OMIM #266150 OMIM #608786 OMIM #312170 OMIM #300502 OMIM #308930 OMIM #179060 OMIM #238331 OMIM #614111 OMIM #248600 OMIM #203740 OMIM #608348 OMIM #608782 OMIM #245349 OMIM #608769 OMIM #614741 OMIM #614738 OMIM #614737 OMIM #250620 OMIM #610690 OMIM #616277 OMIM #602292

External Resources

WUSTL Neuromuscular

Washington University Disease Center

Online Mendelian Inheritance in Man

Biomedical Literature

NCBI Expert-Authored Reviews

Portal for Rare Diseases

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.