Combined Oxidative Phosphorylation Defect Type 23

Description

Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Defect Type 23

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Feeding difficulties
  • Visual impairment
  • Intrauterine growth retardation
  • Cardiomyopathy
  • Congestive heart failure

And another 6 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 23 Is also known as coxpd23.

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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Combined Oxidative Phosphorylation Defect Type 23 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BCS1L, SCO2, SUCLA2, SUCLG1, SURF1, TSFM, FBXL4, GFM1, GTPBP3, LRPPRC, NDUFAF5, SLC19A3, LIAS, TPK1, NUBPL, NDUFAF4, SERAC1, FARS2, PDHX, COX10 , (...)

View the complete list with 43 more genes
Specificity
2 %
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 %
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
Specificity
1 %
Genes
100 %
Combined oxidative phosphorylation deficiency type 23.

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

GTPBP3
Specificity
100 %
Genes
100 %
GTPBP3.

By Fulgent Genetics Fulgent Genetics (United States).

GTPBP3
Specificity
100 %
Genes
100 %
Cardiomyopathy Panel.

By Blueprint Genetics (Finland).

RIT1, RRAS, RYR2, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A4, SOS1, SOS2, TAZ, TBX20, TBX5 , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %
Comprehensive Cardiology Panel.

By Blueprint Genetics (Finland).

RIT1, RRAS, RYR2, SCN10A, SCN1B, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A4, SOS1, SOS2, TAZ , (...)

View the complete list with 163 more genes
Specificity
1 %
Genes
100 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics (Finland).

SCN1A, SCN1B, SCN2A, SCN8A, SCO1, ST3GAL3, ST3GAL5, SLC25A1, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1 , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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