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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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


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

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

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

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

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

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

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

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

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

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

Zellweger syndrome (sequence analysis of PEX19 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PEX19 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

Zellweger syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PEX19 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PEX19 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PEX19 gene.

More info about this panel

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

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

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

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

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

Peroxisome biogenesis disorder 12A Panel

Spain.

By Bioarray

This panel specifically test the PEX19 gene.

More info about this panel

Zellweger syndrome Panel

Spain.

By Bioarray

This panel specifically test the PEX19 gene.

More info about this panel

Zellweger syndrome Panel

Spain.

By Bioarray

This panel specifically test the PEX19 gene.

More info about this panel

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

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

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

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

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

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


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