PPOX gene related symptoms and diseases
All the information presented here about the PPOX gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PPOX gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Chronic kidney disease | Very Common - Between 80% and 100% cases |
Tetraplegia | Very Common - Between 80% and 100% cases |
Abnormal blistering of the skin | Very Common - Between 80% and 100% cases |
Psychosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PPOX gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cutaneous photosensitivity
- Hypertrichosis
- Thin skin
- Hallucinations
- Aspiration
- Hypopigmented skin patches
- Agitation
- Tachycardia
And 37 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PPOX gene
Here you will find a list of rare diseases related to the PPOX. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PORPHYRIA VARIEGATA
Alternate names
PORPHYRIA VARIEGATA Is also known as variegate porphyria, ppox deficiency, porphyria, south african type, protoporphyrinogen oxidase deficiency, vp
Description
Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.
Most common symptoms of PORPHYRIA VARIEGATA
- Intellectual disability
- Seizures
- Short stature
- Growth delay
- Nystagmus
More info about PORPHYRIA VARIEGATA
Search interest in PPOX
Potential gene panels for PPOX 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 panelPPOX 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 PPOX gene.
More info about this panelPPOX. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PPOX gene.
More info about this panelAcute Porphyria (Intermittent, Coproporphyria, Variegate) (sequence analysis of CPOX, PPOX and HMBS genes) Panel
By CGC Genetics Acute Porphyria (Intermittent, Coproporphyria, Variegate) (sequence analysis of CPOX, PPOX and HMBS genes) that also includes the following genes: CPOX HMBS PPOX
More info about this panelPorphyria variegata (sequence anaçysis of PPOX gene) Panel
By CGC Genetics
This panel specifically test the PPOX gene.
More info about this panelPorphyria Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Porphyria Sequencing Panel with CNV Detection that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HMBS PPOX
More info about this panelChronic/Cutaneous Porphyria Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection that also includes the following genes: UROD UROS CPOX FECH ALAS2 PPOX
More info about this panelVariegate Porphyria via PPOX Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the PPOX gene.
More info about this panelAcute/Neurovisceral Porphyria Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Acute/Neurovisceral Porphyria Sequencing Panel with CNV Detection that also includes the following genes: CPOX ALAD HMBS PPOX
More info about this panelPPOX Panel
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the PPOX gene.
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 panelHepatic and pancreatic diseases - panels Panel
By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B
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 panelPorphyria variegata Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PPOX gene.
More info about this panelVariegate Porphyria Panel
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the PPOX gene.
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 panelPPOX - Variegate Porphyria Panel
By Centre for Inherited Metabolic Diseases Karolinska University Hospital
This panel specifically test the PPOX gene.
More info about this panelPorphyria Panel
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the PPOX gene.
More info about this panelPorphyria Panel
By Asper Biogene Asper Biogene LLC Porphyria that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HFE HMBS PPOX
More info about this panelPPOX Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the PPOX gene.
More info about this panelInvitae Acute Hepatic Porphyrias Panel Panel
By Invitae Invitae Acute Hepatic Porphyrias Panel that also includes the following genes: CPOX ALAD HMBS PPOX
More info about this panelPorphyria variegata: PPOX gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PPOX gene.
More info about this panelAcute Porphyria, Multi-Gene Panel Panel
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Acute Porphyria, Multi-Gene Panel that also includes the following genes: CPOX HMBS PPOX
More info about this panelPPOX Gene, Full Gene Analysis Panel
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic
This panel specifically test the PPOX gene.
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 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 panelPPOX Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PPOX gene.
More info about this panelPorphyria Panel Panel
By Blueprint Genetics Porphyria Panel that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HFE HMBS PPOX
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 panelPorphyria variegata Panel
By Bioarray
This panel specifically test the PPOX gene.
More info about this panelPORPHYRIA VARIEGATA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the PPOX gene.
More info about this panelPorphyria Variegata , Sequencing PPOX Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PPOX gene.
More info about this panelHepatic Porphyria , Panel Deletions-Duplications (MLPA) ALAD, HMBS, PPOX Panel
By Reference Laboratory Genetics Hepatic Porphyria , Panel Deletions-Duplications (MLPA) ALAD, HMBS, PPOX that also includes the following genes: ALAD HMBS PPOX
More info about this panelPorphyria Related Diseases , Panel Massive Sequencing (NGS) 7 Genes Panel
By Reference Laboratory Genetics Porphyria Related Diseases , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: UROD UROS CPOX FECH ALAD HMBS PPOX
More info about this panelVariegate Porphyria: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PPOX gene.
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