SOD1 gene related symptoms and diseases
All the information presented here about the SOD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SOD1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Muscle weakness | Common - Between 50% and 80% cases |
| Cataract | Common - Between 50% and 80% cases |
| Hyperreflexia | Common - Between 50% and 80% cases |
| Skeletal muscle atrophy | Common - Between 50% and 80% cases |
| Dysphagia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SOD1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dementia
Not very common - Between 30% and 50% cases
- Microcephaly
- Gait disturbance
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Muscular hypotonia
And 411 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SOD1 gene
Here you will find a list of rare diseases related to the SOD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AMYOTROPHIC LATERAL SCLEROSIS
Alternate names
AMYOTROPHIC LATERAL SCLEROSIS Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial
Description
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS
- Microcephaly
- Muscle weakness
- Pain
- Cataract
- Spasticity
More info about AMYOTROPHIC LATERAL SCLEROSIS
DOWN SYNDROME
Alternate names
DOWN SYNDROME Is also known as trisomy 21
Description
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
Most common symptoms of DOWN SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about DOWN SYNDROME
MELAS
Alternate names
MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, melas syndrome, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
Description
MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.
Most common symptoms of MELAS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about MELAS
JUVENILE PRIMARY LATERAL SCLEROSIS
Alternate names
JUVENILE PRIMARY LATERAL SCLEROSIS Is also known as juvenile pls, pls, juvenile, jpls
Description
Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.
Most common symptoms of JUVENILE PRIMARY LATERAL SCLEROSIS
- Muscle weakness
- Spasticity
- Hyperreflexia
- Skeletal muscle atrophy
- Dysphagia
More info about JUVENILE PRIMARY LATERAL SCLEROSIS
Search interest in SOD1
Potential gene panels for SOD1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
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 panel United States.
SOD1 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the SOD1 gene.
More info about this panel United States.
Amyotrophic Lateral Sclerosis Advanced Evaluation Panel
United States.
By Athena Diagnostics Inc Amyotrophic Lateral Sclerosis Advanced Evaluation that also includes the following genes: SOD1 SQSTM1 TARDBP UBQLN2 VAPB VCP FIG4 OPTN CHMP2B DCTN1
More info about this panel United States.
Amyotrophic Lateral Sclerosis (ALS) Panel
United States.
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the SOD1 gene.
More info about this panel United States.
Amyotrophic Lateral Sclerosis Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Amyotrophic Lateral Sclerosis that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART
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.
Amyotrophic Lateral Sclerosis Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta Amyotrophic Lateral Sclerosis that also includes the following genes: SOD1 C9orf72
More info about this panel Canada.
Familial Amyotrophic Lateral Sclerosis 1 Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the SOD1 gene.
More info about this panel United Kingdom.
Superoxide dismutase 1 (SOD1) gene sequencing test Panel
Cyprus.
By Neurogenetics Department Cyprus Institute of Neurology and Genetics
This panel specifically test the SOD1 gene.
More info about this panel Cyprus.
SOD1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SOD1 gene.
More info about this panel Spain.
SOD1, FUS, TARDBP, ANG, C9orf72. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica SOD1, FUS, TARDBP, ANG, C9orf72. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SOD1 TARDBP C9orf72 FUS ANG
More info about this panel Spain.
Amyotrophic lateral sclerosis 1 (sequence analysis of SOD1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SOD1 gene.
More info about this panel Portugal.
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP OPTN CDH13 TREM2
More info about this panel United States.
Classic Amyotrophic Lateral Sclerosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Classic Amyotrophic Lateral Sclerosis Sequencing Panel with CNV Detection that also includes the following genes: SOD1 TARDBP C9orf72 FUS
More info about this panel United States.
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via SOD1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SOD1 gene.
More info about this panel United States.
Amyotrophic lateral sclerosis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders Comprehensive panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10
More info about this panel United States.
Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel Panel
United States.
By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10
More info about this panel United States.
Amyotrophic lateral sclerosis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders NGS panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10
More info about this panel United States.
Amyotrophic lateral sclerosis Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Amyotrophic lateral sclerosis that also includes the following genes: SOD1 TARDBP VAPB FUS ALS2
More info about this panel Germany.
Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panel Germany.
SOD1-Related Amyotrophic Lateral Sclerosis Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SOD1 gene.
More info about this panel Germany.
Amyotrophic Lateral Sclerosis (ALS) and Phenocopies Panel
Germany.
By MGZ Medical Genetics Center Amyotrophic Lateral Sclerosis (ALS) and Phenocopies that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP CHCHD10 BSCL2 SLC52A3
More info about this panel Germany.
ALS Sequencing Panel Panel
United States.
By FirmaLab ALS Sequencing Panel that also includes the following genes: SOD1 TARDBP VAPB ANG
More info about this panel United States.
Oxidation Panel Panel
United States.
By FirmaLab Oxidation Panel that also includes the following genes: SOD1 CBS MAOA
More info about this panel United States.
SOD1 Sequencing Panel
United States.
By FirmaLab
This panel specifically test the SOD1 gene.
More info about this panel United States.
SOD1 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the SOD1 gene.
More info about this panel Netherlands.
FTD - ALS panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht FTD - ALS panel that also includes the following genes: SMPD1 SOD1 TARDBP VAPB VCP NPC2 FIG4 CHMP2B FUS ALS2
More info about this panel Netherlands.
Amyotrophic lateral sclerosis type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SOD1 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.
ALS panel Panel
Germany.
By Centogene AG - the Rare Disease Company ALS panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART
More info about this panel Germany.
Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion Panel
United States.
By MNG Laboratories (Medical Neurogenetics, LLC.) Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP PARK7 FIG4 OPTN
More info about this panel United States.
Amyotrophic Lateral Sclerosis NGS Panel Panel
United States.
By MNG Laboratories (Medical Neurogenetics, LLC.) Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP PARK7 FIG4 OPTN
More info about this panel United States.
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panel Germany.
Amyotrophic Lateral Sclerosis (ALS) Panel Panel
Germany.
By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2
More info about this panel Germany.
Single gene testing SOD1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the SOD1 gene.
More info about this panel Germany.
SOD1 - Gene sequencing Panel
Netherlands.
By Clinical Genetics Academic Medical Center
This panel specifically test the SOD1 gene.
More info about this panel Netherlands.
Amyotrophic lateral sclerosis Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Amyotrophic lateral sclerosis that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN4 TUBA4A VAPB CHCHD10 FIG4 OPTN
More info about this panel Poland.
SOD1 Panel
Greece.
By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology
This panel specifically test the SOD1 gene.
More info about this panel Greece.
Corneal Dystrophy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Corneal Dystrophy that also includes the following genes: SOD1 TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL17A1 COL8A2 CYP4V2
More info about this panel Estonia.
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.
Amyotrophic Lateral Sclerosis Panel
Estonia.
By Asper Biogene Asper Biogene LLC Amyotrophic Lateral Sclerosis that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10
More info about this panel Estonia.
Amyotrophic lateral sclerosis, SOD1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the SOD1 gene.
More info about this panel United States.
Amyotrophic lateral sclerosis, SOD1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the SOD1 gene.
More info about this panel United States.
Amyotrophic lateral sclerosis 01 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SOD1 gene.
More info about this panel Austria.
Amyotrophic lateral sclerosis 01 Panel
Slovakia.
By MedGene
This panel specifically test the SOD1 gene.
More info about this panel Slovakia.
Invitae Amyotrophic Lateral Sclerosis Panel Panel
United States.
By Invitae Invitae Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB CHCHD10 OPTN DCTN1
More info about this panel United States.
Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel Panel
United States.
By Invitae Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SNCA SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB VCP CHCHD10
More info about this panel United States.
Amyotrophic lateral Sclerosis: SOD1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SOD1 gene.
More info about this panel Spain.
AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R. that also includes the following genes: SOD1 TARDBP VAPB VCP FIG4 OPTN SPART FUS ALS2 SETX
More info about this panel Spain.
NGS panel - dementia Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB
More info about this panel Netherlands.
Amyotrophic Lateral Sclerosis NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP ABCG5 ABHD12 FIG4 OPTN
More info about this panel United States.
SOD1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SOD1 gene.
More info about this panel United States.
Amyotrophic Lateral Sclerosis Panel Panel
Finland.
By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP
More info about this panel Finland.
Amyotrophic lateral sclerosis Panel
Spain.
By Bioarray
This panel specifically test the SOD1 gene.
More info about this panel Spain.
Amyotrophic Lateral Sclerosis (SOD1 gene) Panel
Belgium.
By Diagnostic Service Facility University of Antwerp
This panel specifically test the SOD1 gene.
More info about this panel Belgium.
AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) Panel
Spain.
By Laboratorio de Genetica Clinica SL AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) that also includes the following genes: SOD1 SQSTM1 TARDBP VAPB VCP CHCHD10 FIG4 CHMP2B DCTN1 C9orf72
More info about this panel Spain.
AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL that also includes the following genes: ATXN2 SOD1 SPG11 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP CHCHD10
More info about this panel Spain.
Amyotrophic Lateral Sclerosis , Sequencing SOD1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SOD1 gene.
More info about this panel Spain.
Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SOD1 SPG11 TARDBP VAPB VCP FIG4 OPTN SPART FUS ALS2
More info about this panel Spain.
Amyotrophic lateral sclerosis type 1 Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the SOD1 gene.
More info about this panel Germany.
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