SCO1 gene related symptoms and diseases
All the information presented here about the SCO1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SCO1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Encephalopathy | Very Common - Between 80% and 100% cases |
| Cardiomyopathy | Very Common - Between 80% and 100% cases |
| Acidosis | Very Common - Between 80% and 100% cases |
| Muscular hypotonia | 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 SCO1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Respiratory insufficiency
- Lactic acidosis
- Respiratory distress
- Seizures
- Hypertrophic cardiomyopathy
- Generalized hypotonia
- Increased CSF lactate
- Global developmental delay
And 102 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SCO1 gene
Here you will find a list of rare diseases related to the SCO1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED CYTOCHROME C OXIDASE DEFICIENCY
Alternate names
ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency, cox deficiency, isolated cox deficiency, cytochrome c oxidase deficiency
Description
Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.
Most common symptoms of ISOLATED CYTOCHROME C OXIDASE DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY
FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY
Alternate names
FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY Is also known as fatal infantile cox deficiency, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency, cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy
Description
Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.
Most common symptoms of FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY
- Seizures
- Global developmental delay
- Generalized hypotonia
- Nystagmus
- Muscular hypotonia
More info about FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY
Search interest in SCO1
Potential gene panels for SCO1 gene
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
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 panel United States.
Respiratory Chain Deficiency Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Respiratory Chain Deficiency that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 UQCRB LRPPRC
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
United States.
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 panel United States.
Hepatic failure, early onset, and neurologic disorder (sequence analysis of SCO1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SCO1 gene.
More info about this panel Portugal.
SCO1 Sequence Analysis Panel
Netherlands.
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the SCO1 gene.
More info about this panel Netherlands.
Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel
United States.
By PreventionGenetics PreventionGenetics Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) that also includes the following genes: SCO1 SCO2 SURF1 LRPPRC COA6 APOPT1 COX15 COX6B1 TACO1 COA3
More info about this panel United States.
Mitochondrial Complex IV Deficiency via SCO1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SCO1 gene.
More info about this panel United States.
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
United States.
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 panel United States.
Leigh Syndrome Panel
Germany.
By MGZ Medical Genetics Center Leigh Syndrome that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 LRPPRC SLC19A3
More info about this panel Germany.
Mitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes) Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes) that also includes the following genes: SCO1 SCO2 SURF1 COX10 COX15 COX6B1 TACO1 FASTKD2
More info about this panel Germany.
Leigh Syndrome (nuclear DNA mutation) Panel
Germany.
By MGZ Medical Genetics Center Leigh Syndrome (nuclear DNA mutation) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SURF1 COX10 COX15 COX6B1 TACO1 NDUFAF2
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
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 panel Germany.
Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic that also includes the following genes: SCO1 SCO2 SUCLA2 SUCLG1 SURF1 TWNK TK2 FBXL4 SLC19A3 COQ8A
More info about this panel Germany.
Epilepsy and Mitochondrial Encephalopathy Panel
Germany.
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 panel Germany.
Mitochondrial Diseases Panel
Germany.
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 panel Germany.
Mitochondrial Hepato(encephalo)pathy and Phenocopies Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Hepato(encephalo)pathy and Phenocopies that also includes the following genes: BCS1L SCO1 SUCLG1 TWNK TSFM GFM1 ABHD5 CPT1A TRMU DGUOK
More info about this panel Germany.
Mitochondrial Encephalopathy Panel
Germany.
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 panel Germany.
Epilepsy Panel
Germany.
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 panel Germany.
Comprehensive mitochondrial disorders panel Panel
Germany.
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 panel Germany.
Hepatic failure, early onset, and neurologic disorder Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SCO1 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
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 panel Germany.
Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
Estonia.
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 panel Estonia.
Mitochondrial respiratory chain complex II, III, and IV deficiency Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Mitochondrial respiratory chain complex II, III, and IV deficiency that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 UQCRB COX4I2
More info about this panel Spain.
Mitochondrial complex IV deficiency Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Mitochondrial complex IV deficiency that also includes the following genes: SCO1 SCO2 SURF1 COX10 COX15 COX6B1 TACO1 COX14 FASTKD2 MT-CO1
More info about this panel Spain.
Mitochondrial Diseases: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Mitochondrial Diseases: Sequencing Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SURF1 UQCRB LRPPRC NDUFAF5
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
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 panel United States.
SCO1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SCO1 gene.
More info about this panel United States.
Epileptic Encephalopathy Panel Panel
Finland.
By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2
More info about this panel Finland.
Leukodystrophy and Leukoencephalopathy Panel Panel
Finland.
By Blueprint Genetics Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: SCO1 AIMP1 SOX10 TREX1 GFM1 NDUFAF5 SAMHD1 NFU1 MRPL44 MLC1
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel
Taiwan.
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panel Taiwan.
CYTOCHROME C OXIDASE DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL CYTOCHROME C OXIDASE DEFICIENCY that also includes the following genes: SCO1 SCO2 SURF1 COX10 COX15 COX14 FASTKD2
More info about this panel Spain.
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