ACOX1 gene related symptoms and diseases
All the information presented here about the ACOX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACOX1 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Peripheral demyelination | Very Common - Between 80% and 100% cases |
EEG abnormality | Very Common - Between 80% and 100% cases |
Elevated hepatic transaminase | Very Common - Between 80% and 100% cases |
Neonatal hypotonia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ACOX1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Developmental regression
- Irritability
- Retinopathy
- Neurological speech impairment
- Severe global developmental delay
- Abnormality of the cerebral white matter
- Retinal degeneration
- Hypodontia
And 52 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACOX1 gene
Here you will find a list of rare diseases related to the ACOX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY
Alternate names
PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy, pseudo-neonatal adrenoleukodystrophy, pseudo-nald, pseudoadrenoleukodystrophy, straight-chain acyl-coa oxidase deficiency
Description
Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
Most common symptoms of PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Hypertelorism
More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY
Search interest in ACOX1
Potential gene panels for ACOX1 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 panelHereditary Spastic Paraplegia Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
More info about this panelPeroxisomal Beta-Oxidation Defects NGS Panel Panel
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Peroxisomal Beta-Oxidation Defects NGS Panel that also includes the following genes: SCP2 ACOX1 HSD17B4
More info about this panelZelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel Panel
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel that also includes the following genes: SCP2 ACOX1 PEX26 DNM1L HSD17B4 PEX1 PEX10 PEX12 PEX13 PEX14
More info about this panelPeroxisomal Disorders Comprehensive NGS Panel Panel
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Peroxisomal Disorders Comprehensive NGS Panel that also includes the following genes: SCP2 ACOX1 CAT PEX26 DNM1L AGPS AGXT GNPAT AMACR HSD17B4
More info about this panelPeroxisomal Disorders Sequencing Panel Panel
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Peroxisomal Disorders Sequencing Panel that also includes the following genes: SCP2 ACOX1 CAT GDAP1 PEX26 MFF FAR1 DNM1L PEX5L AGPS
More info about this panelPeroxisomal disorders Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Peroxisomal disorders that also includes the following genes: SCP2 ACOX1 PEX26 DNM1L AGPS AGXT GNPAT AMACR HSD17B4 ABCD1
More info about this panelACOX1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ACOX1 gene.
More info about this panelAcyl-CoA peroxisomal oxidase deficiency (sequence analysis of ACOX1 gene) Panel
By CGC Genetics
This panel specifically test the ACOX1 gene.
More info about this panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panelacyl-CoA oxidase deficiency Panel
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the ACOX1 gene.
More info about this panelPeroxisomal Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Peroxisomal Disorders Sequencing Panel with CNV Detection that also includes the following genes: ACOX1 PEX26 DNM1L AGPS GNPAT HSD17B4 ABCD1 ABCD3 PEX1 PEX10
More info about this panelAcyl-CoA Oxidase Deficiency via ACOX1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ACOX1 gene.
More info about this panelLeukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
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 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 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 panelAcyl-CoA peroxisomal oxidase deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ACOX1 gene.
More info about this panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panelLeukodystrophy / Leukoencephalopathy Panel Panel
By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1
More info about this panelqCarrier Plus Panel
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 panelInvitae Zellweger Spectrum Disorder Panel Panel
By Invitae Invitae Zellweger Spectrum Disorder Panel that also includes the following genes: ACOX1 PEX26 AMACR HSD17B4 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16
More info about this panelPeroxisomal disorders Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Peroxisomal disorders that also includes the following genes: SCP2 ACOX1 ABHD12 PEX26 DNM1L AGPS GNPAT HSD17B4 ABCD1 ABCD3
More info about this panelLeukoencephalopathy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Leukoencephalopathy NGS Panel that also includes the following genes: SCP2 SLC25A12 ACOX1 MLC1 GJC2 ABAT CSF1R FAM126A DARS2 HEPACAM
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 panelPeroxisomal NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Peroxisomal NGS Panel that also includes the following genes: ACOX1 PEX26 DNM1L AGPS HSD17B4 ABCD1 ABCD3 PEX1 PEX10 PEX11B
More info about this panelSpastic Paraplegia NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Spastic Paraplegia NGS Panel that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ACOX1 BSCL2 NIPA1 SPART
More info about this panelACOX1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACOX1 gene.
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 panelPeroxisomal Disorders Panel Panel
By Blueprint Genetics Peroxisomal Disorders Panel that also includes the following genes: ACOX1 SUGCT DYM PEX26 EBP AGPS AGXT GNPAT AMACR HSD17B4
More info about this panelPeroxisomal acyl-CoA oxidase deficiency Panel
By Bioarray
This panel specifically test the ACOX1 gene.
More info about this panelAcyl-CoA Peroxisomal Oxidase Deficiency, Sequencing ACOX1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ACOX1 gene.
More info about this panelPeroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5
More info about this panelStorage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
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