Combined Oxidative Phosphorylation Deficiency 22; Coxpd22

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Combined Oxidative Phosphorylation Deficiency 22; Coxpd22

ATP5F1A

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Deficiency 22; Coxpd22

Seizures
Generalized hypotonia
Microcephaly
Growth delay
Failure to thrive
Hypertension
Intrauterine growth retardation
Congestive heart failure
Encephalopathy
Pulmonary arterial hypertension

And another 1 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Combined Oxidative Phosphorylation Deficiency 22; Coxpd22 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Complex V Deficiency via ATP5F1A (ATP5A1) Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ATP5F1A Specificity 100 % Genes 100 %
Mitochondrial Complex V Deficiency Sequencing Panel with CNV Detection (Nuclear Genes). By PreventionGenetics PreventionGenetics (United States). ATPAF2, TMEM70, ATP5F1A, ATP5F1E Specificity 25 % Genes 100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...) View the complete list with 154 more genes Panel complete gene list BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB, UQCRC2, FBXL4, GFM1, MRPS16, ELAC2, MRPS7, MRPS22, MRPS23, GTPBP3, PUS1, LRPPRC, NDUFAF5, APTX, SFXN4, MGME1, SLC19A3, NFU1, LIAS, MRPL44, COQ8A, MFN2, LARS2, NDUFA13, RRM2B, TPK1, SARS2, PDSS1, COA6, RNASEH1, ATPAF2, NDUFAF1, COQ8B, MTO1, COQ4, ISCA2, COQ6, NUBPL, TRIT1, NDUFA11, NDUFB11, APOPT1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, UQCC2, PDHX, LYRM4, RARS2, ACAD9, VARS2, AGK, COQ7, COX10, COX15, COX6A1, COX6B1, COX7B, COX8A, PDSS2, TRMT5, PNPT1, ETHE1, NDUFA12, YARS2, TACO1, BOLA3, FLAD1, COA3, MARS2, COQ2, COQ9, TRMU, MTPAP, DARS2, CARS2, COA7, CYC1, TTC19, TRMT10C, TMEM70, NSUN3, NARS2, C12orf65, FOXRED1, COX20, IBA57, LYRM7, NDUFAF2, COX14, DGUOK, NDUFAF6, COQ5, DLAT, DLD, FASTKD2, DNA2, EARS2, LIPT1, UQCRQ, MTFMT, GFM2, IARS2, ISCU, NDUFAF3, PARS2, TARS2, TMEM126B, TYMP, AFG3L2, ECHS1, COA5, SDHAF1, UQCC3, ETFA, ETFB, ETFDH, PET100, GARS, GFER, HADHA, HADHB, HARS2, HIBCH, KARS, MPV17, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, OPA1, OPA3, ATP5F1A, ATP5F1E, AIFM1, PDHA1, PDHB, POLG, POLG2, PDP1 Specificity 1 % Genes 100 %
Neurogenetic Disorders - panels. By MGZ Medical Genetics Center (Germany). BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...) View the complete list with 572 more genes Panel complete gene list BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC1A4, SLC22A5, SLC25A12, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC6A3, SLC6A5, SLC6A8, KDM5C, SNAP25, SNCA, SIK1, SOX10, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, STAT2, CDKL5, STUB1, STXBP1, SUCLA2, SUCLG1, SURF1, SYNGAP1, SYNJ1, TAF1, TALDO1, TARDBP, TAZ, TBK1, TWNK, TFG, TH, TIMM8A, NKX2-1, TK2, ACOX1, TREX1, TSFM, TTPA, TTR, TUBB2A, TUFM, UBE3A, UBQLN2, UQCRB, UQCRC2, USP8, VAMP1, VCP, WFS1, WWOX, XK, XRCC4, MCOLN1, VPS35, ATP8A2, ERLIN2, FBXO7, FBXL4, AAAS, GFM1, CACNA1A, CACNA1B, CACNA1C, CACNA1G, CACNA1H, PRDM8, ANO3, CACNB4, MRPS16, NPRL3, SLC25A20, CAD, PCDH19, SLC25A19, ELOVL4, MRPS7, ACTG2, MRPS22, NPC2, ARHGEF9, PINK1, VPS11, GTPBP3, SNX14, CASR, MICU1, GPHN, PUS1, CHCHD10, ARHGEF15, NBAS, LRPPRC, BSCL2, ABHD12, PANK2, NDUFAF5, NOP56, PLCB1, SAMHD1, GDAP1, APTX, CCT5, SLC52A3, MGME1, COX4I2, TGM6, SLC19A3, PNPLA6, NFU1, PARK7, NLRP3, EFHC1, SCARB2, MRPL44, MCEE, CIZ1, COQ8A, MFN2, DGAT2, ERLIN1, STAMBP, CLP1, PRICKLE1, EXOSC8, NIPA1, MLC1, SYNE1, LARS2, RAB3GAP2, NDUFA13, BICD2, ZFR, RRM2B, TRNT1, TPK1, GJC2, SARS2, ACY1, PDSS1, TXN2, EXOSC3, REEP2, ARX, SPATA5, PRIMA1, DEPDC5, RNASEH1, SPART, RNASEH2A, STX1B, CPT1C, LRRK2, PMPCA, ATPAF2, NDUFAF1, KCNT1, MMAA, GBA2, COQ8B, VPS13A, CHAT, PSAT1, TTBK2, CHD2, DOCK7, MTO1, MMAB, KIF21A, CHKB, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, LYST, COQ4, DDHD1, ISCA2, SLC25A22, TECPR2, CHD8, POLR1C, CLCN2, CLCN4, COQ6, NUBPL, TRIT1, PRICKLE2, NDUFA11, NDUFB11, SPG21, SUMF1, MBD5, APOPT1, L2HGDH, CYP2U1, SLC25A26, TPP1, CLN3, CLN5, ZFYVE26, CLN6, TUBB3, TUBB4A, CLN8, CLPP, THAP1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, FA2H, PDHX, ABHD5, RARS2, ACAD9, NHLRC1, VARS2, RNASET2, RNF216, AGK, KCTD7, COL4A1, COL4A2, COL6A3, AP5Z1, PTCD1, COLQ, COQ7, ADAR, COX10, COX15, COX6B1, GMPPB, COX8A, CP, PEX26, PDSS2, SLC13A5, TRMT5, ALG2, PNPT1, UBA5, CPT1A, ETHE1, CPT2, ADCY5, NDUFA12, RNASEH2C, YARS2, PTRH2, TACO1, CSF1R, BOLA3, MMACHC, CHMP2B, FAM126A, SIL1, FLAD1, CSTB, VPS37A, MARS2, SLC25A46, COQ2, COQ9, SLC30A10, TMEM126A, TANGO2, C19orf12, TRMU, ANO10, MTPAP, DARS2, RNASEH2B, CARS2, KCTD17, PGAP1, DCAF17, REEP1, RETREG1, TTC19, SDHAF2, CYP27A1, TMEM70, SLC25A38, NARS2, HEPACAM, CYP7B1, ZFYVE27, DOK7, C12orf65, FOXRED1, DBT, IBA57, TSEN54, SLC6A19, LYRM7, NDUFAF2, CCDC115, COX14, ALG14, SLC25A42, DGUOK, NDUFAF6, WDR45, DLAT, DLD, WASHC5, RUBCN, DDHD2, FASTKD2, TBC1D24, EPG5, DNA2, EARS2, TOR1AIP1, UQCRQ, MTFMT, IARS2, DNM2, DNMT1, ISCU, NDUFAF3, COASY, DPAGT1, PIK3R5, DPM2, POLR3A, ATP13A2, SLC52A2, PREPL, PNPO, PYCR2, POLR3B, PRRT2, DNAJC19, FDX2, PARS2, SEPSECS, CLPB, TARS2, PNPLA2, DYRK1A, WDR48, TOR1A, TYMP, AFG3L2, ECHS1, EEF1A2, AGL, EEF2, ARSI, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, AGRN, ENTPD1, SDHAF1, EPM2A, ETFA, ETFB, ETFDH, FGF14, FLRT1, FOLR1, FOXG1, FXN, ALAS2, FTL, FUCA1, ALDH3A2, GABRA1, GABRD, GABRG2, GAD1, GALC, B4GALNT1, GAMT, GAN, GARS, GBA, GBE1, GCDH, GCH1, GFAP, GFER, GFPT1, GJA1, GLDC, GLRA1, GLRB, GNAL, ALS2, GOSR2, SETX, AMACR, GRID2, GRIK2, GRIN2A, GRM1, GRN, GTPBP2, AMPD2, HADH, ABCB7, HARS2, HCFC1, HCN1, HEXA, HEXB, HIBCH, MR1, HNRNPDL, HNRNPU, HPCA, HSD17B4, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, APOE, ITPR1, IVD, APP, KARS, KCNA1, KCNA4, KCNC1, KCNC3, KCND3, KCNH5, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KIF1C, KIF5A, L1CAM, LAMA2, LAMP2, LARS, LGI1, ARG1, LMNB1, LMNB2, LRP4, MAG, MAPT, MARS, ARL6IP1, MECP2, MEF2C, ARSA, MOCS1, MOCS2, MPV17, MRE11, ASAH1, MTHFR, MTM1, ASL, MTTP, MUSK, MMUT, MYBPC1, ASPA, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NOL3, NOTCH3, NPC1, ATM, ATP1A2, ATP1A3, NT5C2, OPA1, OPA3, ATP2B4, ATP5F1A, ATP5F1E, OTC, PRKN, PC, PCCA, PCCB, ATP7B, AIFM1, ALDH7A1, PDE8B, PDGFB, PDHA1, PDHB, PDYN, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, KIF1A, ACADM, AUH, PHGDH, PHYH, ACADS, PLA2G6, PLP1, PNKD, PNKP, PODXL, POLG, POLG2, ACADVL, PDP1, PPP2R2B, PPT1, PPT2, PRKCG, PRKRA, DNAJC3, PRNP, LONP1, PSAP, SLC33A1, PSEN1, PSEN2, PEX19, PEX2, PEX5, ALDH18A1, QARS, RANBP2, BCKDHA, RAPSN, BCKDHB, RARS, RELN Specificity 1 % Genes 100 %
Mitochondrial Diseases. By MGZ Medical Genetics Center (Germany). BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A12, SLC25A3, SLC25A4, SLC6A8, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TIMM8A , (...) View the complete list with 148 more genes Panel complete gene list BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A12, SLC25A3, SLC25A4, SLC6A8, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TIMM8A, TK2, TSFM, TUFM, UQCRB, UQCRC2, WFS1, FBXL4, GFM1, MRPS16, SLC25A20, SLC25A19, ACTG2, MRPS22, MICU1, PUS1, LRPPRC, PANK2, NDUFAF5, GDAP1, APTX, MGME1, COX4I2, SLC19A3, NFU1, COQ8A, MFN2, LARS2, RRM2B, TPK1, SARS2, PDSS1, ATPAF2, NDUFAF1, MTO1, CHKB, COQ6, NUBPL, TRIT1, NDUFA11, CLPP, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, PDHX, ABHD5, RARS2, ACAD9, VARS2, AGK, PTCD1, COX10, COX15, COX6B1, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, NDUFA12, YARS2, TACO1, BOLA3, FLAD1, MARS2, COQ2, COQ9, TMEM126A, TRMU, ANO10, MTPAP, DARS2, TTC19, SDHAF2, TMEM70, SLC25A38, C12orf65, FOXRED1, IBA57, LYRM7, NDUFAF2, COX14, DGUOK, NDUFAF6, DLAT, DLD, FASTKD2, DNA2, EARS2, UQCRQ, MTFMT, ISCU, NDUFAF3, DPAGT1, DNAJC19, FDX2, TARS2, PNPLA2, TYMP, AFG3L2, AGL, EIF2AK3, SDHAF1, ETFA, ETFB, ETFDH, GARS, GBE1, GFAP, GFER, ABCB7, HARS2, KARS, KIF5A, LAMP2, MPV17, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OPA3, ATP5F1A, ATP5F1E, PC, AIFM1, PDHA1, PDHB, ACADM, AUH, ACADS, POLG, POLG2, ACADVL, PDP1, SLC33A1 Specificity 1 % Genes 100 %
Complex V Defect. By MGZ Medical Genetics Center (Germany). ATPAF2, TMEM70, ATP5F1A, ATP5F1E Specificity 25 % Genes 100 %
Mitochondrial Encephalopathy. By MGZ Medical Genetics Center (Germany). BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC25A12, SLC25A3, SLC25A4, SLC6A8, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TIMM8A, TK2 , (...) View the complete list with 111 more genes Panel complete gene list BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC25A12, SLC25A3, SLC25A4, SLC6A8, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TIMM8A, TK2, TSFM, TUFM, UQCRB, UQCRC2, WFS1, FBXL4, GFM1, MRPS16, SLC25A20, SLC25A19, MRPS22, MICU1, PUS1, LRPPRC, PANK2, NDUFAF5, COX4I2, SLC19A3, NFU1, COQ8A, RRM2B, TPK1, SARS2, PDSS1, ATPAF2, MTO1, COQ6, NUBPL, TRIT1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, PDHX, RARS2, ACAD9, VARS2, AGK, PTCD1, COX10, COX15, COX6B1, PDSS2, PNPT1, ETHE1, NDUFA12, YARS2, TACO1, BOLA3, FLAD1, MARS2, COQ2, COQ9, TRMU, MTPAP, DARS2, TTC19, SDHAF2, TMEM70, FOXRED1, IBA57, LYRM7, NDUFAF2, COX14, DGUOK, NDUFAF6, DLAT, DLD, FASTKD2, EARS2, UQCRQ, MTFMT, NDUFAF3, DPAGT1, DNAJC19, TARS2, TYMP, EIF2AK3, SDHAF1, ETFA, ETFB, ETFDH, GFAP, GFER, MPV17, NDUFA1, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, ATP5F1A, ATP5F1E, PC, AIFM1, PDHA1, PDHB, AUH, POLG, PDP1, SLC33A1 Specificity 1 % Genes 100 %
Combined oxidative phosphorylation deficiency type 22. By Centogene AG - the Rare Disease Company (Germany). ATP5F1A Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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