ACADS gene related symptoms and diseases

All the information presented here about the ACADS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ACADS gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Aciduria Very Common - Between 80% and 100% cases
Facial palsy Very Common - Between 80% and 100% cases
Feeding difficulties in infancy Very Common - Between 80% and 100% cases
Respiratory tract infection Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ACADS gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Lethargy
  • Abnormality of the cerebral white matter
  • Ophthalmoplegia
  • Hepatic steatosis
  • Metabolic acidosis
  • Decreased fetal movement
  • Acidosis
  • Psychosis

And 33 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ACADS gene

Here you will find a list of rare diseases related to the ACADS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY


Alternate names

SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as scad deficiency, scadh deficiency, acads deficiency, lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency, scadd

Description

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.

Most common symptoms of SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


More info about SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

SOURCES: OMIM MESH ORPHANET


Potential gene panels for ACADS gene

ACADS Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ACADS gene.

More info about this panel

ACADS Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ACADS gene.

More info about this panel

ACADS Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ACADS gene.

More info about this panel

ACADS Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ACADS gene.

More info about this panel

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

Fatty Acid Oxidation Panel (MitomeNGS) Panel

United States.

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 panel

SCAD Deficiency Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the ACADS gene.

More info about this panel

Fatty Acid Oxidation Deficiency Panel

United States.

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 panel

Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD) Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the ACADS gene.

More info about this panel

Short-chain acyl-CoA dehydrogenase (SCAD) Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the ACADS gene.

More info about this panel

MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS) Panel

United States.

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 panel

ACADS Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the ACADS gene.

More info about this panel

MetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel Panel

United States.

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 panel

ACADS Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the ACADS gene.

More info about this panel

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

ACADS Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the ACADS gene.

More info about this panel

SCAD Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the ACADS gene.

More info about this panel

ACADS. Detection of the mutations c.319C>T, c.511C>T and c.625G>A by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ACADS gene.

More info about this panel

ACADS. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ACADS gene.

More info about this panel

Short-chain acyl-CoA dehydrogenase deficiency (sequence analysis of ACADS gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ACADS gene.

More info about this panel

Short-chain acyl-CoA dehydrogenase deficiency (deletion/duplication analysis of ACADS gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ACADS gene.

More info about this panel

Short-chain acyl-CoA dehydrogenase deficiency (deletion/duplication analysis of ACADS gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ACADS gene.

More info about this panel

SCAD deficiency Panel

Netherlands.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center

This panel specifically test the ACADS gene.

More info about this panel

Hyperammonemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hyperammonemia Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SLC25A20 NAGS MMAA MMAB CPT1A CPT2

More info about this panel

Short Chain Acyl-CoA Dehydrogenase Deficiency via ACADS Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ACADS gene.

More info about this panel

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel

United States.

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 panel

Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection Panel

United States.

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 panel

Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis Panel

Germany.

By MGZ Medical Genetics Center Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis that also includes the following genes: RYR1 SLC22A5 LPIN1 FKRP ABHD5 CPT2 ANO5 DMD ISCU FDX2

More info about this panel

Muscle Pain - fluctuating CK - Rhabdomyolysis Panel

Germany.

By MGZ Medical Genetics Center Muscle Pain - fluctuating CK - Rhabdomyolysis that also includes the following genes: RYR1 SCN4A TTN TTR LPIN1 CACNA1S FKRP CLCN1 CPT2 ANO5

More info about this panel

Newborn: Cardiomyopathy as presenting sign Panel

Germany.

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 panel

ACADS Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ACADS gene.

More info about this panel

Heart Diseases - panels Panel

Germany.

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 panel

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

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

Mitochondrial Cardiomyopathy Panel

Germany.

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 panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

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 panel

Infancy: Cardiomyopathies Panel

Germany.

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 panel

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

Acyl-CoA, short-chain, dehydrogenase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ACADS gene.

More info about this panel

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

CentoICU platinum plus Panel

Germany.

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 panel

New Born testing (CentoICU) Panel

Germany.

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 panel

Metabolic Myopathies Panel Panel

Germany.

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 panel

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

Single gene testing ACADS Panel

Germany.

By CeGaT GmbH

This panel specifically test the ACADS gene.

More info about this panel

Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD Deficiency) Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center

This panel specifically test the ACADS gene.

More info about this panel

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

Fatty Acid Oxidation Disorder Panel

Estonia.

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 panel

Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency Panel

Estonia.

By Asper Biogene Asper Biogene LLC

This panel specifically test the ACADS gene.

More info about this panel

ACADS Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the ACADS gene.

More info about this panel

Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel

United States.

By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ

More info about this panel

Invitae Elevated C4 Panel Panel

United States.

By Invitae Invitae Elevated C4 Panel that also includes the following genes: ETHE1 ACAD8 ACADS

More info about this panel

Invitae Fatty Acid Oxidation Defects Panel Panel

United States.

By Invitae Invitae Fatty Acid Oxidation Defects Panel that also includes the following genes: SLC22A5 SLC25A20 CPT1A CPT2 NADK2 ETFA ETFB ETFDH HADH HADHA

More info about this panel

Short-chain acyl-CoA dehydrogenase deficiency (SCAD): ACADS gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ACADS gene.

More info about this panel

Inherited Metabolic Disorders: Sequencing Panel Panel

United States.

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 panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency, Full Gene Analysis Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic

This panel specifically test the ACADS gene.

More info about this panel

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

Fatty Acid Oxidation Deficiency NGS Panel Panel

United States.

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 panel

ACADS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACADS gene.

More info about this panel

Hyperammonemia and Urea Cycle Disorder Panel Panel

Finland.

By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

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 panel

Fatty Acid Oxidation Syndrome Panel Panel

Finland.

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 panel

Short chain acyl-CoA dehydrogenase deficiency Panel

Spain.

By Bioarray

This panel specifically test the ACADS gene.

More info about this panel

Baby Genes Targeted Panel Panel

United States.

By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

SHORT CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ACADS gene.

More info about this panel

Short Chain Acyl CoA Dehydrogenase Deficiency , Sequencing ACADS Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ACADS gene.

More info about this panel

Fatty Acid Oxidation Related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel

Spain.

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

More info about this panel

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2

More info about this panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the ACADS gene.

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel


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