Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 4; Cemcox4

Clinical Features

Top most frequent phenotypes and symptoms related to Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 4; Cemcox4

  • Generalized hypotonia
  • Muscular hypotonia
  • Cardiomyopathy
  • Congestive heart failure
  • Acidosis
  • Hypertrophic cardiomyopathy
  • Lethargy
  • Lactic acidosis
  • Short chin
  • Tachypnea

And another 3 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.

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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Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 4; Cemcox4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Complex IV Deficiency via COA6 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

COA6
Specificity
100 %
Genes
100 %
Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes).

By PreventionGenetics PreventionGenetics (United States).

SCO1, SCO2, SURF1, LRPPRC, COA6, APOPT1, COX15, COX6B1, TACO1, COA3, COX20, COX14, FASTKD2, COA5, PET100
Specificity
7 %
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 %
Cardiovascular Diseases_General Panel.

By Health in Code (Spain).

RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD , (...)

View the complete list with 351 more genes
Specificity
1 %
Genes
100 %
Arrhythmia General Panel.

By Health in Code (Spain).

RIT1, MRPL3, RRAS, RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, SGCA, SGCB, SGCD, SLC22A5, BRAF, SLC25A3, SLC25A4, SNTA1, SOS1 , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
100 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code (Spain).

MRPL3, RYR2, SCO2, SLC22A5, BRAF, SLC25A3, SLC25A4, SOS1, SURF1, TAZ, TCAP, KLF10, TNNC1, TNNI3, TNNT2, TPM1, TSFM, TTN, TTR, VCL , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathies General Panel.

By Health in Code (Spain).

RIT1, MRPL3, RRAS, RYR2, SCN5A, SCO2, SDHA, SGCA, SGCB, SGCD, SLC22A5, BRAF, SLC25A3, SLC25A4, SOS1, SOS2, SURF1, TAZ, TBX20, TCAP , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
COA6.

By Fulgent Genetics Fulgent Genetics (United States).

COA6
Specificity
100 %
Genes
100 %

We have 0 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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