Create issue ticket

考えれる60県の原因 coxpd1

  • X連鎖パーキンソニズム痙縮症候群

    また、COXPD患者のミトコンドリアの翻訳伸長因子の遺伝子(GFM1, TUFM, TSFM およびC12orf65)に変異があることも報告されている 先天代謝異常症; ミトコンドリア病 (COXPD1) GFM1 [HSA: 85476 ] [KO: K02355 ] (COXPD2) MRPS16 [HSA: 51021 ] [KO:[kegg.jp] ) RMND1 [HSA: 55005 ] (COXPD12) EARS2 [HSA: 124454 ] [KO: K01885 ] (COXPD13) PNPT1 [HSA: 87178 ] [KO: K00962 ] (COXPD14) FARS2 [HSA: 10667 ] [KO: K01889 ] (COXPD15) MTFMT[kegg.jp] ] (COXPD7) C12orf65 [HSA: 91574 ] (COXPD8) AARS2 [HSA: 57505 ] [KO: K01872 ] (COXPD9) MRPL3 [HSA: 11222 ] [KO: K02906 ] (COXPD10) MTO1 [HSA: 25821 ] [KO: K03495 ] (COXPD11[kegg.jp]

  • 腎結石症または骨粗鬆症を伴う優性低リン酸血症

    また、COXPD患者のミトコンドリアの翻訳伸長因子の遺伝子(GFM1, TUFM, TSFM およびC12orf65)に変異があることも報告されている 先天代謝異常症; ミトコンドリア病 (COXPD1) GFM1 [HSA: 85476 ] [KO: K02355 ] (COXPD2) MRPS16 [HSA: 51021 ] [KO:[kegg.jp] ) RMND1 [HSA: 55005 ] (COXPD12) EARS2 [HSA: 124454 ] [KO: K01885 ] (COXPD13) PNPT1 [HSA: 87178 ] [KO: K00962 ] (COXPD14) FARS2 [HSA: 10667 ] [KO: K01889 ] (COXPD15) MTFMT[kegg.jp] ] (COXPD7) C12orf65 [HSA: 91574 ] (COXPD8) AARS2 [HSA: 57505 ] [KO: K01872 ] (COXPD9) MRPL3 [HSA: 11222 ] [KO: K02906 ] (COXPD10) MTO1 [HSA: 25821 ] [KO: K03495 ] (COXPD11[kegg.jp]

  • 酸化的燐酸化の欠陥のタイプ14

    また、COXPD患者のミトコンドリアの翻訳伸長因子の遺伝子(GFM1, TUFM, TSFM およびC12orf65)に変異があることも報告されている 先天代謝異常症; ミトコンドリア病 (COXPD1) GFM1 [HSA: 85476 ] [KO: K02355 ] (COXPD2) MRPS16 [HSA: 51021 ] [KO:[kegg.jp] ) RMND1 [HSA: 55005 ] (COXPD12) EARS2 [HSA: 124454 ] [KO: K01885 ] (COXPD13) PNPT1 [HSA: 87178 ] [KO: K00962 ] (COXPD14) FARS2 [HSA: 10667 ] [KO: K01889 ] (COXPD15) MTFMT[kegg.jp] ] (COXPD7) C12orf65 [HSA: 91574 ] (COXPD8) AARS2 [HSA: 57505 ] [KO: K01872 ] (COXPD9) MRPL3 [HSA: 11222 ] [KO: K02906 ] (COXPD10) MTO1 [HSA: 25821 ] [KO: K03495 ] (COXPD11[kegg.jp]

  • FG症候群

    また、COXPD患者のミトコンドリアの翻訳伸長因子の遺伝子(GFM1, TUFM, TSFM およびC12orf65)に変異があることも報告されている 先天代謝異常症; ミトコンドリア病 (COXPD1) GFM1 [HSA: 85476 ] [KO: K02355 ] (COXPD2) MRPS16 [HSA: 51021 ] [KO:[kegg.jp] ) RMND1 [HSA: 55005 ] (COXPD12) EARS2 [HSA: 124454 ] [KO: K01885 ] (COXPD13) PNPT1 [HSA: 87178 ] [KO: K00962 ] (COXPD14) FARS2 [HSA: 10667 ] [KO: K01889 ] (COXPD15) MTFMT[kegg.jp] ] (COXPD7) C12orf65 [HSA: 91574 ] (COXPD8) AARS2 [HSA: 57505 ] [KO: K01872 ] (COXPD9) MRPL3 [HSA: 11222 ] [KO: K02906 ] (COXPD10) MTO1 [HSA: 25821 ] [KO: K03495 ] (COXPD11[kegg.jp]

  • リー・フラウメニ症候群

    また、COXPD患者のミトコンドリアの翻訳伸長因子の遺伝子(GFM1, TUFM, TSFM およびC12orf65)に変異があることも報告されている 先天代謝異常症; ミトコンドリア病 (COXPD1) GFM1 [HSA: 85476 ] [KO: K02355 ] (COXPD2) MRPS16 [HSA: 51021 ] [KO:[kegg.jp] ) RMND1 [HSA: 55005 ] (COXPD12) EARS2 [HSA: 124454 ] [KO: K01885 ] (COXPD13) PNPT1 [HSA: 87178 ] [KO: K00962 ] (COXPD14) FARS2 [HSA: 10667 ] [KO: K01889 ] (COXPD15) MTFMT[kegg.jp] ] (COXPD7) C12orf65 [HSA: 91574 ] (COXPD8) AARS2 [HSA: 57505 ] [KO: K01872 ] (COXPD9) MRPL3 [HSA: 11222 ] [KO: K02906 ] (COXPD10) MTO1 [HSA: 25821 ] [KO: K03495 ] (COXPD11[kegg.jp]

  • TMEM70関連ミトコンドリア脳心筋ミオパチー

    […] phosphorylation deficiency-23) MTO1 614702 HCM COXPD10 (combined oxidative phosphorylation deficiency-10) ELAC2 615440 HCM COXPD17 (combined oxidative phosphorylation deficiency[jpccs.jp] (combined oxidative phosphorylation deficiency-5) TSFM 610505 HCM COXPD3 (combined oxidative phosphorylation deficiency-3) GTPBP3 616198 HCM, DCM COXPD23 (combined oxidative[jpccs.jp] […] mitochondrial complex V (ATP synthase) deficiency nuclear type 2) ミトコンドリア蛋白合成 AARS2 614096 HCM COXPD8 (combined oxidative phosphorylation deficiency-8) MRPS22 611719 HCM COXPD5[jpccs.jp]

  • ミトコンドリアDNA枯渇症候群3型肝脳症

    […] phosphorylation deficiency-23) MTO1 614702 HCM COXPD10 (combined oxidative phosphorylation deficiency-10) ELAC2 615440 HCM COXPD17 (combined oxidative phosphorylation deficiency[jpccs.jp] (combined oxidative phosphorylation deficiency-5) TSFM 610505 HCM COXPD3 (combined oxidative phosphorylation deficiency-3) GTPBP3 616198 HCM, DCM COXPD23 (combined oxidative[jpccs.jp] […] mitochondrial complex V (ATP synthase) deficiency nuclear type 2) ミトコンドリア蛋白合成 AARS2 614096 HCM COXPD8 (combined oxidative phosphorylation deficiency-8) MRPS22 611719 HCM COXPD5[jpccs.jp]

  • ZNF335欠乏による小頭症性原発性小人症

    [HSA: 11154 ] [KO: K12403 ] (SPG53) VPS37A [HSA: 137492 ] [KO: K12185 ] (SPG54) DDHD2 [HSA: 23259 ] [KO: K16545 ] (SPG55) COXPD7 [HSA: 91574 ] (SPG56) CYP2U1 [HSA: 113612[kegg.jp] K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO: K12402 ] (SPG52) AP4S1[kegg.jp]

  • 常染色体劣性の非症候性難聴および難聴DFNB61

    [HSA: 11154 ] [KO: K12403 ] (SPG53) VPS37A [HSA: 137492 ] [KO: K12185 ] (SPG54) DDHD2 [HSA: 23259 ] [KO: K16545 ] (SPG55) COXPD7 [HSA: 91574 ] (SPG56) CYP2U1 [HSA: 113612[kegg.jp] K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO: K12402 ] (SPG52) AP4S1[kegg.jp]

  • 脳筋症ミトコンドリアDNA枯渇症候群

    […] phosphorylation deficiency-23) MTO1 614702 HCM COXPD10 (combined oxidative phosphorylation deficiency-10) ELAC2 615440 HCM COXPD17 (combined oxidative phosphorylation deficiency[jpccs.jp] (combined oxidative phosphorylation deficiency-5) TSFM 610505 HCM COXPD3 (combined oxidative phosphorylation deficiency-3) GTPBP3 616198 HCM, DCM COXPD23 (combined oxidative[jpccs.jp] […] mitochondrial complex V (ATP synthase) deficiency nuclear type 2) ミトコンドリア蛋白合成 AARS2 614096 HCM COXPD8 (combined oxidative phosphorylation deficiency-8) MRPS22 611719 HCM COXPD5[jpccs.jp]

さらなる症状