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Mitochondrial DNA-related progressive external ophthalmoplegia

Disease Export to PDF
Name:
Mitochondrial DNA-related progressive external ophthalmoplegia
Description:
An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.
ORPHAcode:
663
Synonyms:
Maternally-inherited CPEO
Maternally-inherited chronic progressive external ophthalmoplegia
mtDNA-related progressive external ophthalmoplegia
XREF(s):
Orphanet
ICD-10
Analyte(s):
MT-TS1
MT-TL2
MT-TN
MT-TL1
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