disease 1,558 words KG: ent-dise-6c063c25 2026-03-23
kind:diseasesection:diseasesstate:published
Contents

Leigh Syndrome

Disease Info
Autosomal recessiveMost common (e.g., SURF1, PDHA1, NDUFS1)
Maternal inheritanceMT-ATP6, MT-ND genes (mitochondrial DNA)
X-linkedPDHA1 (most common X-linked form)
Complex I genesNDUFS1, NDUFS2, NDUFS4, NDUFAF6
Complex IV genesSURF1, COX10, COX15, SCO1
Complex V genesATP5F1A (MTATP1)
Pyruvate dehydrogenase genesPDHA1, PDHB, DLAT
Coenzyme Q genesCOQ8A (ADCK3), COQ9
Assembly factorsVarious complex-specific factors
MT-ATP6ATP synthase subunit 6
MT-ND1, MT-ND5, MT-ND6Complex I subunits
MT-CO1, MT-CO2, MT-CO3Complex IV subunits
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph