Combined Oxidative Phosphorylation Defect Type 9

Description

Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Defect Type 9

  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy
  • Dyspnea
  • Elevated hepatic transaminase
  • Hypertrophic cardiomyopathy
  • Abnormality of the liver
  • Increased serum lactate

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

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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

Combined Oxidative Phosphorylation Defect Type 9 Is also known as coxpd9.

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 Defect Type 9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
MRPL3-Related Combined Oxidative Phosphorylation Deficiency via MRPL3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

MRPL3
Specificity
100 %
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
Specificity
1 %
Genes
100 %
Hypertrophic cardiomyopathy - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RIT1, MRPL3, RRAS, SLC22A5, BRAF, SOS1, SOS2, SURF1, TNNI3, TNNT2, TPM1, TSFM, TTN, TTR, ACTA1, GFM1, ACTC1, MRPS22, BSCL2, LIAS , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company (Germany).

RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR , (...)

View the complete list with 156 more genes
Specificity
1 %
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
Specificity
1 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code (Spain).

MRPL3, RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, BMPR1B, BMPR2, SGCA, SGCB, SGCD, SKI, SLC22A5, BRAF, SLC25A4, SNTA1, SOS1, SURF1, TAZ , (...)

View the complete list with 191 more genes
Specificity
1 %
Genes
100 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code (Spain).

MRPL3, RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SLC22A5, BRAF, SLC25A4, SNTA1, SOS1, SURF1, TAZ, TBX5, TCAP, TGFB3, KLF10, TNNC1, TNNI3 , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
100 %

You can get up to 11 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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