PEX19 gene related symptoms and diseases
All the information presented here about the PEX19 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PEX19 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Short stature | Very Common - Between 80% and 100% cases |
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Wide nasal bridge | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PEX19 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Epicanthus
- Intellectual disability
- High palate
- Elevated long chain fatty acids
- High forehead
- Anteverted nares
- Optic atrophy
- Hepatomegaly
And 198 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PEX19 gene
Here you will find a list of rare diseases related to the PEX19. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
INFANTILE REFSUM DISEASE
Alternate names
INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal, infantile phytanic acid storage disease, peroxisome biogenesis disorder (nald/ird), ird, refsum disease, infantile, peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)
Description
Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).
Most common symptoms of INFANTILE REFSUM DISEASE
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about INFANTILE REFSUM DISEASE
NEONATAL ADRENOLEUKODYSTROPHY
Alternate names
NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald
Description
Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).
Most common symptoms of NEONATAL ADRENOLEUKODYSTROPHY
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about NEONATAL ADRENOLEUKODYSTROPHY
ZELLWEGER SYNDROME
Alternate names
ZELLWEGER SYNDROME Is also known as zs, cerebrohepatorenal syndrome, zws, chr
Description
Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
Most common symptoms of ZELLWEGER SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about ZELLWEGER SYNDROME
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A
Description
Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.
Most common symptoms of PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A
SOURCES: OMIM
Search interest in PEX19
Potential gene panels for PEX19 gene
Non-immune Hydrops Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B
More info about this panel United States.
NGS Peroxisome Biogenesis Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Peroxisome Biogenesis Disorders Panel that also includes the following genes: PEX26 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX3 PEX6 PEX19
More info about this panel United States.
Lysosomal Storage Disease Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1
More info about this panel United States.
Zellweger Spectrum Disorder NGS Panel Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Zellweger Spectrum Disorder NGS Panel that also includes the following genes: PEX26 DNM1L PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX3 PEX6
More info about this panel United States.
Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel Panel
United States.
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 panel United States.
Peroxisomal Disorders Comprehensive NGS Panel Panel
United States.
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 panel United States.
Liver Diseases 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 Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1
More info about this panel United States.
Peroxisomal Disorders Sequencing Panel Panel
Czech Republic.
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 panel Czech Republic.
Peroxisomal disorders Panel
United Kingdom.
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 panel United Kingdom.
PEX19. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PEX19 gene.
More info about this panel Spain.
Zellweger syndrome (sequence analysis of PEX19 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PEX19 gene.
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
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 panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
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 panel Portugal.
Zellweger Syndrome Spectrum Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center Zellweger Syndrome Spectrum that also includes the following genes: PEX26 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX3 PEX6
More info about this panel Netherlands.
Peroxisomal Disorders Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX19 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PEX19 gene.
More info about this panel United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
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 Germany.
Zellweger syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Zellweger syndrome panel that also includes the following genes: PEX26 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX3 PEX6 PEX19
More info about this panel Germany.
Zellweger syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PEX19 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.
Peroxisomal Disorder Panel Panel
Germany.
By CeGaT GmbH Peroxisomal Disorder Panel that also includes the following genes: PEX26 AMACR ABCD1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16
More info about this panel Germany.
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
Germany.
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 panel Germany.
Peroxisomal Disorders Panel Panel
Germany.
By CeGaT GmbH Peroxisomal Disorders Panel that also includes the following genes: PEX26 AMACR ABCD1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16
More info about this panel Germany.
Leukodystrophy / Leukoencephalopathy Panel Panel
Germany.
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 panel Germany.
Zellweger Spectrum Disorders Panel
Estonia.
By Asper Biogene Asper Biogene LLC Zellweger Spectrum Disorders that also includes the following genes: PEX26 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX3 PEX6 PEX7
More info about this panel Estonia.
Brain malformations Panel
Estonia.
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panel Estonia.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Invitae Zellweger Spectrum Disorder Panel Panel
United States.
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 panel United States.
Leukodistrophy Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leukodistrophy that also includes the following genes: SCP2 AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1
More info about this panel Spain.
Peroxisomal disorders Panel
Spain.
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 panel Spain.
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum: Sequencing Panel that also includes the following genes: PEX26 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX3 PEX6
More info about this panel United States.
Neonatal and Adult Cholestasis: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2
More info about this panel United States.
Lysosomal Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
More info about this panel United States.
Peroxisomal NGS Panel Panel
United States.
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 panel United States.
Zellweger Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Zellweger Syndrome NGS Panel that also includes the following genes: PEX26 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX3 PEX6
More info about this panel United States.
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 United States.
PEX19 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PEX19 gene.
More info about this panel United States.
Retinal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel Finland.
Chondrodysplasia Punctata Panel Panel
Finland.
By Blueprint Genetics Chondrodysplasia Punctata Panel that also includes the following genes: NSDHL EBP AGPS GNPAT LBR ARSE PEX14 PEX7 PEX19
More info about this panel Finland.
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 Finland.
Peroxisomal Disorders Panel Panel
Finland.
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 panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Peroxisome biogenesis disorder 12A Panel
Spain.
By Bioarray
This panel specifically test the PEX19 gene.
More info about this panel Spain.
Zellweger syndrome Panel
Spain.
By Bioarray
This panel specifically test the PEX19 gene.
More info about this panel Spain.
Zellweger syndrome Panel
Spain.
By Bioarray
This panel specifically test the PEX19 gene.
More info about this panel Spain.
ZELLWEGER SYNDROME – NGS –PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ZELLWEGER SYNDROME – NGS –PANEL that also includes the following genes: PEX26 ABCD3 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX3 PEX6
More info about this panel Spain.
Zellweger Syndrome Type 12A , Sequencing PEX19 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PEX19 gene.
More info about this panel Spain.
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel
Spain.
By Reference Laboratory Genetics Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes that also includes the following genes: AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1 GJC2
More info about this panel Spain.
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
Spain.
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 panel Spain.
Zellweger Syndrome , Panel Massive Sequencing (NGS) 14 Genes Panel
Spain.
By Reference Laboratory Genetics Zellweger Syndrome , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: PEX26 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX3 PEX6
More info about this panel Spain.
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
Spain.
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
More info about this panel Spain.
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