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Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation

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Name:
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Description:
A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.
ORPHAcode:
324525
Synonyms:
Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation
Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation
XREF(s):
Orphanet
Analyte(s):
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