PDSS1 gene related symptoms and diseases
All the information presented here about the PDSS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PDSS1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Hearing impairment | Very Common - Between 80% and 100% cases |
Peripheral neuropathy | Very Common - Between 80% and 100% cases |
Macrocephaly | Very Common - Between 80% and 100% cases |
Optic atrophy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PDSS1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Intellectual disability, mild
- Obesity
- Areflexia
- Increased serum lactate
- Pulmonary arterial hypertension
- Mitral regurgitation
- Aortic regurgitation
- Cutis marmorata
Rare diseases associated to PDSS1 gene
Here you will find a list of rare diseases related to the PDSS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME
Alternate names
DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME Is also known as hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
Description
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.
Most common symptoms of DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME
- Intellectual disability
- Hearing impairment
- Peripheral neuropathy
- Macrocephaly
- Optic atrophy
More info about DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME
Search interest in PDSS1
Potential gene panels for PDSS1 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 panelPDSS1 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PDSS1 gene.
More info about this panelPDSS1 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PDSS1 gene.
More info about this panelPDSS1 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PDSS1 gene.
More info about this panelPDSS1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PDSS1 gene.
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 panelAtaxia Exome Panel Panel
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 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 panelNGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB
More info about this panelCoenzyme Q10 deficiency type 2 (sequence analysis of PDSS1 gene) Panel
By CGC Genetics
This panel specifically test the PDSS1 gene.
More info about this panelCoenzyme Q10 deficiency (NGS panel for 8 genes) Panel
By CGC Genetics Coenzyme Q10 deficiency (NGS panel for 8 genes) that also includes the following genes: APTX COQ8A PDSS1 COQ6 PDSS2 COQ2 COQ9 ETFDH
More info about this panelCoenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection that also includes the following genes: APTX COQ8A PDSS1 COQ8B COQ4 COQ6 PDSS2 COQ2 COQ9 ETFA
More info about this panelMetabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel that also includes the following genes: RYR1 SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 RBCK1 COQ8A
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 panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelCoQ10 Deficiency Panel
By MGZ Medical Genetics Center CoQ10 Deficiency that also includes the following genes: APTX COQ8A PDSS1 COQ6 PDSS2 COQ2 COQ9 ANO10 ETFA ETFB
More info about this panelPDSS1-Related Coenzyme Q10 Deficiency Panel
By MGZ Medical Genetics Center
This panel specifically test the PDSS1 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 panelMitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic Panel
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 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 panelCoenzyme Q10 deficiency type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PDSS1 gene.
More info about this panelAllNeuro panel Panel
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 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 panelCoenzyme Q Deficiency Panel Panel
By CeGaT GmbH Coenzyme Q Deficiency Panel that also includes the following genes: APTX COQ8A PDSS1 COQ6 PDSS2 COQ2 COQ9 ETFDH
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 panelAtaxia and differential diagnoses Panel Panel
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panelCoenzyme Q Deficiency Panel Panel
By CeGaT GmbH Coenzyme Q Deficiency Panel that also includes the following genes: APTX COQ8A PDSS1 COQ6 PDSS2 COQ2 COQ9 ETFDH
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 panelSpinocerebellar ataxia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR
More info about this panelEpilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
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 panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
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 panelPDSS1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PDSS1 gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelCoenzyme q10 Deficiency Panel Panel
By Blueprint Genetics Coenzyme q10 Deficiency Panel that also includes the following genes: APTX COQ8A PDSS1 COQ4 COQ6 SLC25A26 COQ7 PDSS2 COQ2 COQ9
More info about this panelAtaxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel
By Reference Laboratory Genetics Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SPTBN2 TBP TTPA VLDLR CACNA1A
More info about this panelCoenzyme Q10 Deficiency , Panel Massive Sequencing (NGS) 12 Genes Panel
By Reference Laboratory Genetics Coenzyme Q10 Deficiency , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: APTX COQ8A PDSS1 COQ4 COQ6 PDSS2 COQ2 COQ9 ANO10 ETFA
More info about this panelPrimary Coenzyme Q10 Deficiency: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Coenzyme Q10 Deficiency: gene sequencing panel that also includes the following genes: COQ8A PDSS1 COQ4 COQ6 COQ7 PDSS2 COQ2 COQ9
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