Neonatal Severe Cardiopulmonary Failure Due To Mitochondrial Methylation Defect

Table of contents:

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

Description

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Genes related to Neonatal Severe Cardiopulmonary Failure Due To Mitochondrial Methylation Defect

SLC25A26

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Clinical Features

Top most frequent phenotypes and symptoms related to Neonatal Severe Cardiopulmonary Failure Due To Mitochondrial Methylation Defect

Global developmental delay
Generalized hypotonia
Muscle weakness
Pain
Hypertension
Fatigue
Respiratory insufficiency
Edema
Congestive heart failure
Abdominal pain

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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.

Alternative names

Neonatal Severe Cardiopulmonary Failure Due To Mitochondrial Methylation Defect Is also known as combined oxidative phosphorylation defect type 28, coxpd28.

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.

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Panel Name, Specifity and genes Tested/covered
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Comprehensive Metabolism Panel. By Blueprint Genetics (Finland). BCS1L, CNNM2, RYR1, CNNM4, SCN4A, SEC23B, SGSH, SI, SLC40A1, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC2A2 , (...) View the complete list with 411 more genes Panel complete gene list BCS1L, CNNM2, RYR1, CNNM4, SCN4A, SEC23B, SGSH, SI, SLC40A1, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC2A2, SLC35A1, SLC35A2, SLC3A1, SLC5A1, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SMPD1, BTD, SPG7, SSR4, SUCLA2, SUCLG1, SUOX, TAT, TAZ, TWNK, HNF1A, HNF1B, TCF4, TCN2, TFR2, TIMM8A, TK2, ACOX1, TPMT, TREX1, MYOT, UCP2, UMOD, UMPS, UROD, UROS, WFS1, XDH, ZMPSTE24, LPIN1, MCOLN1, FBXL4, GFM1, CACNA1S, SLC25A20, NPC2, AMN, ADAMTSL2, COG5, CASR, CAV1, CAV3, GPHN, CBS, HAMP, NBAS, ALG9, LDB3, BSCL2, RBCK1, SAMHD1, APTX, SUGCT, NFU1, UPB1, LIAS, BSND, CD320, MCEE, COQ8A, MFN2, NIPA2, SLC39A4, RRM2B, NGLY1, SARS2, ACY1, PDSS1, NT5C3A, TRPM6, NAGS, FKRP, MOCOS, ALG1, ATP6V0A2, RNASEH2A, ADA, COG4, COG6, COG7, COG8, MMAA, IFIH1, TBC1D4, MMAB, ALG12, COQ4, GLRX5, CLCN1, SLC35C1, B3GLCT, COQ6, CLCNKB, CLDN16, SUMF1, CLDN19, L2HGDH, DHDDS, SLC25A26, TPP1, CLN3, CLN5, CLN6, CLN8, SERAC1, DYM, PDHX, ACAD9, NHLRC1, ANTXR2, AGK, COL11A2, COQ7, ADAR, GMPPA, PEX26, GNPTG, LMBRD1, PDSS2, ALG3, ALG6, ALG2, ALG8, CPOX, CPT1A, CPT2, DOLK, GNE, PTF1A, RNASEH2C, BOLA3, MMACHC, FLAD1, FAM111A, MOGS, CTH, CTNS, MMADHC, COQ2, CTSC, CTSD, COQ9, SLC30A10, CTSK, TMEM126A, TANGO2, CUBN, ANO10, RNASEH2B, ADK, SRD5A3, TMEM70, HGSNAT, C12orf65, FOXRED1, DBT, DDOST, ACSF3, ANO5, SLC6A19, NDUFAF2, D2HGDH, MFSD8, DGUOK, DHCR7, DHODH, COQ5, MAGT1, DLD, ADSL, LIPT1, GNPTAB, DNM1L, ISCU, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, ATP13A2, RFT1, TUSC3, SLC46A1, STT3B, CLPB, TMEM165, PNPLA2, ALG13, DYSF, EBP, TYMP, ECHS1, AGA, AGL, EGF, ALG11, AGPAT2, AGPS, ENO3, AGXT, EPM2A, AHCY, ETFA, ETFB, ETFDH, FAH, FBP1, FKTN, FECH, FH, FLNA, FLNB, FMO3, FOLR1, AKT2, ALAD, ALAS2, FUCA1, FXYD2, G6PC, SLC37A4, GAA, ALDH5A1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, ALDOB, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, CBLIF, GLA, GLB1, GLDC, GLUD1, GLUL, GM2A, GNMT, GNPAT, GNS, GPC3, AMACR, AMPD1, GUSB, GYG1, GYS1, GYS2, AMT, HADH, HSD17B10, HADHA, HADHB, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HIBCH, HLCS, HMBS, HMGCL, HMGCS2, HNF4A, HPD, HPRT1, HRAS, HSD17B4, HYAL1, IDH2, IDS, IDUA, ABCC8, INSR, ABCD1, PDX1, STT3A, IVD, KCNA1, KCNJ10, KCNJ11, APRT, KCNJ2, LAMA2, LAMP2, LCT, LDHA, COG1, LIPA, LIPE, ARG1, LMNA, ABCD3, ABCD4, MAN1B1, MAN2B1, MANBA, MCCC1, MCCC2, MGAT2, ARSA, ARSB, MLYCD, MOCS1, MOCS2, MPDU1, MPI, MPV17, ASAH1, MTHFR, ASL, MTR, MTRR, TRIM37, MMUT, ASPA, MYH3, ASS1, NAGA, NAGLU, NDUFS1, NEU1, PNP, NPC1, ATIC, OAT, OPA1, OPA3, OTC, OXCT1, PAH, PC, PCBD1, PCCA, PCCB, ACAD8, ATP7B, PCK1, ALDH7A1, ACADL, PDHA1, PDHB, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PFKM, PGAM2, PGK1, ACADM, AUH, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHYH, SERPINA1, ACADS, PLIN1, ACADSB, PMM2, POLG, POLG2, ACADVL, PPARG, B4GALT1, CTSA, PPOX, ACAT1, PPT1, PRKAG2, PRODH, PRPS1, PSAP, CAVIN1, PTS, PEX19, PEX2, PEX5, PYGL, PYGM, QDPR, RAI1, BCKDHA, BCKDHB, REN Specificity 1 % Genes 100 %
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Sources and references

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