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Mitochondrial DNA-associated Leigh syndrome

Disease Export to PDF
Name:
Mitochondrial DNA-associated Leigh syndrome
Description:
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
ORPHAcode:
255210
Synonyms:
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
MT-ATP6
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND5
MT-ND6
MT-TL1
MT-TK
MT-TW
MT-TV
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Leigh syndrome (mtDNA / 37 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MT-ND1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ND2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ND3 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ND4L 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ND4 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ND5 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ND6 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-CO1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-CO2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-CO3 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ATP8 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ATP6 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-CYB 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TF 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TQ 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TW 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TL1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TH 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TS1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TS2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TP 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TK 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TT 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TL2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TV 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TE 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TI 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TM 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TN 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TA 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TC 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TG 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TR 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TY 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TD 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-RNR1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-RNR2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations