Combined Oxidative Phosphorylation Defect Type 14

Description

Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Defect Type 14

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Anemia
  • Feeding difficulties
  • Delayed speech and language development
  • Visual impairment

And another 32 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 14 Is also known as coxpd14.

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 14 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FARS2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FARS2
Specificity
100 %
Genes
100 %
FARS2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FARS2
Specificity
100 %
Genes
100 %
FARS2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FARS2
Specificity
100 %
Genes
100 %
FARS2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

FARS2
Specificity
100 %
Genes
100 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
Genes
100 %
Hereditary Spastic Paraplegia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, VAMP1, ERLIN2, CAPN1, BSCL2, PNPLA6, ERLIN1, NIPA1, GJC2, EXOSC3, SPART, CPT1C , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %

We have 29 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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