Combined Oxidative Phosphorylation Deficiency 19; Coxpd19

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 19; Coxpd19

LYRM4

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Deficiency 19; Coxpd19

Generalized hypotonia
Growth delay
Failure to thrive
Feeding difficulties
Hepatomegaly
Respiratory distress
Acidosis
Gastroesophageal reflux
Neonatal hypotonia
Elevated hepatic transaminase

And another 3 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 19; Coxpd19 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Combined oxidative phosphorylation deficiency type 19. By Centogene AG - the Rare Disease Company (Germany). LYRM4 Specificity 100 % Genes 100 %
Nuclear encoded Mitochondriopathies Panel. By CeGaT GmbH (Germany). RMRP, BCS1L, MRPL3, SACS, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC6A8, BTD , (...) View the complete list with 260 more genes Panel complete gene list RMRP, BCS1L, MRPL3, SACS, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC6A8, BTD, ATL1, SPAST, SPG7, STAR, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, ACO2, TIMM8A, TK2, TSFM, TUFM, UNG, UQCRB, UQCRC2, WFS1, WWOX, YWHAE, GFM1, MRPS16, ELAC2, SLC25A20, HTRA2, SLC25A19, MRPS22, PINK1, PUS1, CHCHD10, LRPPRC, PANK2, NDUFAF5, SAMHD1, GDAP1, APTX, SFXN4, MGME1, COX4I2, SLC19A3, NFU1, PARK7, LIAS, KIF1B, MRPL44, MCEE, COQ8A, MFN2, LARS2, RRM2B, TPK1, SARS2, PDSS1, NAGS, SPART, ATPAF2, NDUFAF1, MMAA, COQ8B, MTO1, MMAB, DDHD1, SLC25A22, CYCS, GLRX5, COQ6, NUBPL, NDUFA11, L2HGDH, CLPP, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, PDHX, LYRM4, RARS2, ACAD9, DIABLO, MPC1, AGK, COX10, COX15, COX6B1, COX7B, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CRAT, NDUFA12, CISD2, YARS2, TACO1, BOLA3, DMGDH, MARS2, HOGA1, MMADHC, COQ2, COQ9, TMEM126A, TRMU, MTPAP, DARS2, REEP1, CYC1, CEP89, TTC19, SDHAF2, CYP27A1, TMEM70, SLC25A38, C12orf65, FOXRED1, COX20, DBT, IBA57, DECR1, XPNPEP3, NDUFAF2, COX14, D2HGDH, DGUOK, NDUFAF6, DHODH, CYB5R3, DLAT, DLD, FASTKD2, DNA2, EARS2, UQCRQ, MTFMT, DNM1L, ISCU, NDUFAF3, COASY, DNAJC19, FDX2, PNPLA2, TYMP, AFG3L2, COA5, SDHAF1, ERCC6, ETFA, ETFB, ETFDH, FBP1, AK2, FH, FXN, ALAS2, PET100, ALDH4A1, GAMT, GARS, GATM, GCDH, GCK, GCSH, GFER, GK, GLDC, GLUD1, AMACR, AMT, HADH, ABCB7, HSD17B10, HADHA, HADHB, HARS2, HCCS, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HSPD1, IDH1, IDH2, IDH3B, IVD, KARS, KIF5A, MAOA, MCCC1, MCCC2, MLYCD, ALDH6A1, MPV17, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TL1, MT-TL2, MT-TS1, MT-TS2, MMUT, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OAT, OGDH, OPA1, OPA3, ATP5F1A, ATP5F1E, OTC, OXCT1, PRKN, PC, PCCA, PCCB, ACAD8, PCK2, AIFM1, PDHA1, PDHB, PDK3, ACADM, AUH, ACADS, ACADSB, PNKD, POLG, POLG2, ACADVL, PDP1, PPOX, ACAT1, SLC33A1, BCAT2, BCKDHA, BCKDHB Specificity 1 % Genes 100 %

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Sources and references

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OMIM Rare Disease Search Engine

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