UQCRC2 gene related symptoms and diseases
All the information presented here about the UQCRC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to UQCRC2 gene
Symptoms // Phenotype | % Cases |
---|---|
Cognitive impairment | Very Common - Between 80% and 100% cases |
Elevated hepatic transaminase | Very Common - Between 80% and 100% cases |
Decreased liver function | Very Common - Between 80% and 100% cases |
Increased serum lactate | Very Common - Between 80% and 100% cases |
Metabolic acidosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with UQCRC2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Lactic acidosis
- Hypoglycemia
- Acidosis
- Vomiting
- Epicanthus
- Feeding difficulties
Not very common - Between 30% and 50% cases
- Severe muscular hypotonia
- Cardiomegaly
And 79 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to UQCRC2 gene
Here you will find a list of rare diseases related to the UQCRC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5
Most common symptoms of MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5
- Abnormal facial shape
- Cognitive impairment
- Feeding difficulties
- Epicanthus
- Vomiting
SOURCES: OMIM
ISOLATED COMPLEX III DEFICIENCY
Alternate names
ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency, isolated ubiquinone-cytochrome c reductase deficiency, isolated mitochondrial respiratory chain complex iii deficiency, isolated coenzyme q-cytochrome c reductase deficiency
Description
Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
Most common symptoms of ISOLATED COMPLEX III DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
Search interest in UQCRC2
Potential gene panels for UQCRC2 gene
Mitochondrial complex III deficiency (sequence analysis of UQCRC2 gene) Panel
By CGC Genetics
This panel specifically test the UQCRC2 gene.
More info about this panelMitochondrial Complex III Deficiency via UQCRC2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the UQCRC2 gene.
More info about this panelMitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel
By PreventionGenetics PreventionGenetics Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) that also includes the following genes: BCS1L UQCRB UQCRC2 UQCC2 CYC1 TTC19 LYRM7 UQCRQ UQCC3
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 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 panelComplex III Defect Panel
By MGZ Medical Genetics Center Complex III Defect that also includes the following genes: BCS1L UQCRB UQCRC2 TTC19 UQCRQ
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 panelMitochondrial complex III deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the UQCRC2 gene.
More info about this panelMitochondrial complex III deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the UQCRC2 gene.
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
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 panelUQCRC2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the UQCRC2 gene.
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