ACAD9 gene related symptoms and diseases
All the information presented here about the ACAD9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACAD9 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Decreased plasma carnitine | Very Common - Between 80% and 100% cases |
Left ventricular hypertrophy | Very Common - Between 80% and 100% cases |
Decreased liver function | Very Common - Between 80% and 100% cases |
Exercise intolerance | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ACAD9 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hyperammonemia
- Infantile muscular hypotonia
- EMG: myopathic abnormalities
- Fatigable weakness
- Acute hepatic failure
- Severe lactic acidosis
- Generalized edema
- Cerebral edema
And 41 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACAD9 gene
Here you will find a list of rare diseases related to the ACAD9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACYL-COA DEHYDROGENASE 9 DEFICIENCY
Alternate names
ACYL-COA DEHYDROGENASE 9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency, acad9 deficiency
Description
Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.
Most common symptoms of ACYL-COA DEHYDROGENASE 9 DEFICIENCY
- Seizures
- Generalized hypotonia
- Failure to thrive
- Muscle weakness
- Muscular hypotonia
More info about ACYL-COA DEHYDROGENASE 9 DEFICIENCY
Search interest in ACAD9
Potential gene panels for ACAD9 gene
ACAD9 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACAD9 gene.
More info about this panelACAD9 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACAD9 gene.
More info about this panelACAD9 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACAD9 gene.
More info about this panelMitoMet®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 panelFatty Acid Oxidation Panel (MitomeNGS) Panel
By Baylor Miraca Genetics Laboratories Fatty Acid Oxidation Panel (MitomeNGS) that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB
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 panelFatty Acid Oxidation Deficiency Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Fatty Acid Oxidation Deficiency that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB
More info about this panelMetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1
More info about this panelACAD9 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ACAD9 gene.
More info about this panelMetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center MetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH HADH
More info about this panelACAD9 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ACAD9 gene.
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 panelFatty acid metabolism/ketogenesis disorders Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Fatty acid metabolism/ketogenesis disorders that also includes the following genes: SLC22A5 SLC25A20 SLC52A3 ACAD9 CPT1A CPT1B CPT2 SLC52A2 SLC52A1 ETFA
More info about this panelFatty acid metabolism/ketogenesis disorders Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Fatty acid metabolism/ketogenesis disorders that also includes the following genes: SLC22A5 SLC25A20 SLC52A3 ACAD9 CPT1A CPT1B CPT2 SLC52A2 SLC52A1 ETFA
More info about this panelAcyl-CoA dehydrogenase 9 deficiency (sequence analysis of ACAD9 gene) Panel
By CGC Genetics
This panel specifically test the ACAD9 gene.
More info about this panelMitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel
By PreventionGenetics PreventionGenetics Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) that also includes the following genes: NDUFAF5 NDUFA13 NDUFAF1 NUBPL NDUFA11 NDUFAF4 ACAD9 NDUFA12 FOXRED1 NDUFAF2
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 panelDisorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 FLAD1 DECR1 ECHS1
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 panelHypertrophic cardiomyopathy - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hypertrophic cardiomyopathy - different panels that also includes the following genes: RIT1 MRPL3 RRAS SLC22A5 BRAF SOS1 SOS2 SURF1 TNNI3 TNNT2
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 panelLeigh Syndrome Panel
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 panelNewborn: Cardiomyopathy as presenting sign Panel
By MGZ Medical Genetics Center Newborn: Cardiomyopathy as presenting sign that also includes the following genes: SCO2 SDHA SLC22A5 SLC25A3 TAZ TTN LPIN1 GFM1 SLC25A20 MTO1
More info about this panelAcyl-CoA Dehydrogenase 9 Deficiency Panel
By MGZ Medical Genetics Center
This panel specifically test the ACAD9 gene.
More info about this panelMitochondrial Respiratory Chain Complex I Deficiency (Nuclear Genes) Panel
By MGZ Medical Genetics Center Mitochondrial Respiratory Chain Complex I Deficiency (Nuclear Genes) that also includes the following genes: NDUFA11 ACAD9 NDUFAF2 NDUFAF6 NDUFA1 NDUFA10 NDUFA8 NDUFS1 NDUFS2 NDUFS3
More info about this panelMitochondrial Cardiomyopathy - Sanger Panel
By MGZ Medical Genetics Center Mitochondrial Cardiomyopathy - Sanger that also includes the following genes: SCO2 SLC25A3 MTO1 AARS2 ACAD9 AGK COX15 TMEM70 MT-TL1
More info about this panelHeart Diseases - panels Panel
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
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 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 Cardiomyopathy Panel
By MGZ Medical Genetics Center Mitochondrial Cardiomyopathy that also includes the following genes: SCO2 SDHA SLC22A5 SLC25A3 TAZ GFM1 SLC25A20 MTO1 AARS2 ACAD9
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 panelMuscle Weakness (Myopathy, Muscular Dystrophy) Panel
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panelComplex I Defect Panel
By MGZ Medical Genetics Center Complex I Defect that also includes the following genes: NDUFAF5 NDUFAF1 NUBPL NDUFA11 NDUFAF4 ACAD9 NDUFA12 FOXRED1 NDUFAF2 NDUFAF6
More info about this panelInfancy: Cardiomyopathies Panel
By MGZ Medical Genetics Center Infancy: Cardiomyopathies that also includes the following genes: SCO2 SDHA SLC22A5 SLC25A3 TAZ SLC25A20 MTO1 AARS2 ACAD9 AGK
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 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 panelLeigh syndrome and mitochondrial encephalopathy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ACAD9 gene.
More info about this panelMetabolic Myopathies Panel Panel
By CeGaT GmbH Metabolic Myopathies Panel that also includes the following genes: SLC16A1 SLC22A5 TAZ LPIN1 SLC25A20 PUS1 RBCK1 RRM2B ABHD5 ACAD9
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 panelFatty Acid Oxidation Disorder Panel
By Asper Biogene Asper Biogene LLC Fatty Acid Oxidation Disorder that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1
More info about this panelMetabolic Myopathy and Rhabdomyolysis Panel
By Asper Biogene Asper Biogene LLC Metabolic Myopathy and Rhabdomyolysis that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 CAV3
More info about this panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panelVentricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panelCardiomyopathies Panel Panel
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panelHypertrophic Cardiomyopathy Extended Panel Panel
By Health in Code Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: MRPL3 RYR2 SLC22A5 BRAF SLC25A4 SOS1 SURF1 TAZ TCAP KLF10
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelArrhythmia General Panel Panel
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panelHypertrophic cardiomyopathy extended panel Panel
By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ
More info about this panelCardiomyopathies General Panel Panel
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panelACAD9 Deficiency: ACAD9 Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ACAD9 gene.
More info about this panelACAD9 Deficiency: ACAD9 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ACAD9 gene.
More info about this panelInherited Metabolic Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
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 panelMyopathy-Rhabdomyolysis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Myopathy-Rhabdomyolysis NGS Panel that also includes the following genes: SUCLA2 TWNK TK2 RRM2B ACAD9 CPT1B CPT2 TYMP AGL GAA
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 panelFatty Acid Oxidation Deficiency NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Fatty Acid Oxidation Deficiency NGS Panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB
More info about this panelACAD9 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACAD9 gene.
More info about this panelCardiomyopathy Panel Panel
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
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 panelFatty Acid Oxidation Syndrome Panel Panel
By Blueprint Genetics Fatty Acid Oxidation Syndrome Panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 ECHS1 ETFA ETFB
More info about this panelMetabolic Myopathy and Rhabdomyolysis Panel Panel
By Blueprint Genetics Metabolic Myopathy and Rhabdomyolysis Panel that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TWNK TK2 LPIN1 SLC25A20 CAV3 RBCK1
More info about this panelHypertrophic Cardiomyopathy (HCM) Panel Panel
By Blueprint Genetics Hypertrophic Cardiomyopathy (HCM) Panel that also includes the following genes: BRAF SLC25A4 SOS1 TNNI3 TNNT2 TPM1 TTR ACTA1 ELAC2 JPH2
More info about this panelMITOCHONDRIAL COMPLEX 1 DEFICIENCY (NUCLEAR GENE): NGS PANEL Panel
By Laboratorio de Genetica Clinica SL MITOCHONDRIAL COMPLEX 1 DEFICIENCY (NUCLEAR GENE): NGS PANEL that also includes the following genes: NDUFAF5 NDUFAF1 NDUFA11 NDUFAF4 ACAD9 NDUFA12 FOXRED1 NDUFAF2 NDUFAF6 NDUFA1
More info about this panelFAMILIAL HYPERTROPHIC CARDIOMYOPATHY: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL FAMILIAL HYPERTROPHIC CARDIOMYOPATHY: NGS PANEL that also includes the following genes: MRPL3 SCN5A TCAP KLF10 TNNC1 TNNI3 TNNT2 TPM1 TTN VCL
More info about this panelFatty Acid Oxidation Related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel
By Reference Laboratory Genetics Fatty Acid Oxidation Related Disorders , Panel Massive Sequencing (NGS) 19 Genes that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1
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