Le déficit combiné de la phosphorylation oxydative (ou COXPD pour ) est une maladie mitochondriale.
Types +Liste des types de déficit combiné de la phosphorylation oxydativeTypeOrphaPrévalenceOMIMTransmissionGènesLocus1137681<1 / 609060Autosomique récessiveGFM13q25.322254920610498MRPS1610q22.23168566610505TSFM12q14.14254925610678TUFM16p11.25137908611719MRPS223q236238329300816Récessive liée à l'XAIFM1Xq26.17254930613559Autosomique récessiveMTRFR12q24.318319504614096AARS26p21.19319509614582MRPL33q22.110314637614702/MTO16q1311324535614922Autosomique récessiveRMND16q25.112314051614924EARS216p12.213319514614932PNPT12p16.114319519614946FARS26p25.115319524614947MTFMT15q22.3116352563615395MRPL442q36.117369913615440ELAC217p1218391348615578SFXN410q26.1119397593615595LYRM46p25.1619386NFS120q11.2220420728615917VARS26p21.3321420733615918TARS21q21.222/616045ATP5F1A18q21.123444013<1 / 616198GTPBP319p13.1124444458616239NARS211q14.125447954616430MARS22q33.126477684616539TRMT514q23.127477774616672CARS213q3428466784616794SLC25A263p14.129478029616811TXN222q12.330478042616974TRMT10C3q12.331478049617228MIPEP13q12.1232/617664MRPS3416p13.333/617713C1QBP17p13.234457223<1 / 617872MRPS717q25.135/617873TRIT11p34.236/617950MRPS29q34.337/618329MICOS1319p13.338/618378MRPS141q25.139565624<1 / 618397GFM25q13.340 (Associé à QRSL1)570491618835QRSL16q2141/618838GATB4q31.342/618839GATC12q24.3143/618851TIMM2217p13.344166105<1 / 618855FASTKD22q33.345/618951MRPL1217q25.346/618952MRPS2317q2247/618958MRPS288q21.1348/619012NSUN33q11.249/619024MIEF217p11.250/619025MRPS253p25.151/619057PTCD32p11.252397593<1 / 619386NFS120q11.2253/619423C2orf692q33.1542855619737PRORP14q13.255/619743Autosomique dominante ou récessivePOLRMT19p13.356/620139Autosomique récessiveTAMM413p25.257/620167CRLS120p12.3585901-9 / 620451TEFM17q11.2716917/59/620646MRPL3921q21.360/621195MRPL4911q13.1Associé à C12ORF65497623<1 / ////Associé à WARS2572798<1 / 617710Autosomique récessiveWARS21p12
Notes et références
Catégorie:Maladie mitochondriale