Combined Oxidative Phosphorylation Defect Type 17

Description

Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Defect Type 17

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Intrauterine growth retardation
  • Dysphagia

And another 19 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.

Alternative names

Combined Oxidative Phosphorylation Defect Type 17 Is also known as coxpd17.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Combined Oxidative Phosphorylation Defect Type 17 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 %
Combined oxidative phosphorylation deficiency 17 (sequence analysis of ELAC2 gene).

By CGC Genetics (Portugal).

ELAC2
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 %
Prostate cancer.

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

ELAC2
Specificity
100 %
Genes
100 %
Prostate Cancer Panel.

By CeGaT GmbH (Germany).

RNASEL, BRCA1, BRCA2, BTNL2, ELAC2, CDH1, HOXB13, CD82, AR, MSR1, MXI1, ZFHX3
Specificity
9 %
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 %
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 %

We have 15 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TREMOR, HEREDITARY ESSENTIAL, 5; ETM5 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1 HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20 HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB CHROMOSOME 3q29 DELETION SYNDROME

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more