MRPS16 gene related symptoms and diseases
All the information presented here about the MRPS16 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MRPS16 gene
Symptoms // Phenotype | % Cases |
---|---|
Abnormal facial shape | Very Common - Between 80% and 100% cases |
Feeding difficulties in infancy | Very Common - Between 80% and 100% cases |
Hypokinesia | Very Common - Between 80% and 100% cases |
Redundant skin | Very Common - Between 80% and 100% cases |
Increased serum lactate | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MRPS16 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Metabolic acidosis
- Lactic acidosis
- Lethargy
- Small for gestational age
- Neonatal hypotonia
- Low-set ears
- Elevated hepatic transaminase
- Acidosis
And 6 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MRPS16 gene
Here you will find a list of rare diseases related to the MRPS16. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2
Alternate names
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2, corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis
Description
Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.
Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2
- Abnormal facial shape
- Low-set ears
- Brachydactyly
- Ventriculomegaly
- Edema
More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2
Search interest in MRPS16
Potential gene panels for MRPS16 gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelMRPS16 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MRPS16 gene.
More info about this panelMRPS16 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MRPS16 gene.
More info about this panelMRPS16 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MRPS16 gene.
More info about this panelAgenesis of the Corpus Callosum Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Agenesis of the Corpus Callosum that also includes the following genes: SLC12A6 MRPS16 ARX L1CAM
More info about this panelComprehensive Brain Malformation Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panelComprehensive Mitochondrial Metabolic Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panelMitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panelCombined oxidative phosphorylation deficiency type 2 (sequence analysis of MRPS16 gene) Panel
By CGC Genetics
This panel specifically test the MRPS16 gene.
More info about this panelMitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4
More info about this panelCombined Respiratory Chain Defects Panel
By MGZ Medical Genetics Center Combined Respiratory Chain Defects that also includes the following genes: SUCLA2 SUCLG1 TK2 TSFM TUFM GFM1 MRPS16 MRPS22 PUS1 LRPPRC
More info about this panelCombined Oxidative Phosphorylation Deficiency 2 Panel
By MGZ Medical Genetics Center
This panel specifically test the MRPS16 gene.
More info about this panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelEpilepsy and Mitochondrial Encephalopathy Panel
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelMitochondrial Diseases Panel
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panelMitochondrial Encephalopathy Panel
By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3
More info about this panelEpilepsy Panel
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelComprehensive mitochondrial disorders panel Panel
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panelCombined oxidative phosphorylation deficiency 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MRPS16 gene.
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelMitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panelLactic Acidosis-Pyruvate NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lactic Acidosis-Pyruvate NGS Panel that also includes the following genes: BCS1L SCO2 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SURF1 TAZ TK2 TSFM
More info about this panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelMRPS16 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MRPS16 gene.
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