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
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 United States.
PPOX 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 PPOX gene.
More info about this panel United States.
PPOX. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PPOX gene.
More info about this panel Spain.
Acute Porphyria (Intermittent, Coproporphyria, Variegate) (sequence analysis of CPOX, PPOX and HMBS genes) Panel
Portugal.
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 panel Portugal.
Porphyria variegata (sequence anaçysis of PPOX gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PPOX gene.
More info about this panel Portugal.
Porphyria Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Variegate Porphyria via PPOX Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PPOX gene.
More info about this panel United States.
Acute/Neurovisceral Porphyria Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
PPOX Panel
Slovakia.
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the PPOX gene.
More info about this panel Slovakia.
Mental retardation - different panels Panel
Germany.
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 panel Germany.
Hepatic and pancreatic diseases - panels Panel
Germany.
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 panel Germany.
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 Germany.
Porphyria variegata Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PPOX gene.
More info about this panel Germany.
Variegate Porphyria Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the PPOX gene.
More info about this panel Italy.
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 Germany.
PPOX - Variegate Porphyria Panel
Sweden.
By Centre for Inherited Metabolic Diseases Karolinska University Hospital
This panel specifically test the PPOX gene.
More info about this panel Sweden.
Porphyria Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the PPOX gene.
More info about this panel Poland.
Porphyria Panel
Estonia.
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 panel Estonia.
PPOX Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the PPOX gene.
More info about this panel Austria.
Invitae Acute Hepatic Porphyrias Panel Panel
United States.
By Invitae Invitae Acute Hepatic Porphyrias Panel that also includes the following genes: CPOX ALAD HMBS PPOX
More info about this panel United States.
Porphyria variegata: PPOX gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PPOX gene.
More info about this panel Spain.
Acute Porphyria, Multi-Gene Panel Panel
United States.
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 panel United States.
PPOX Gene, Full Gene Analysis Panel
United States.
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic
This panel specifically test the PPOX gene.
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
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 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.
PPOX Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PPOX gene.
More info about this panel United States.
Porphyria Panel Panel
Finland.
By Blueprint Genetics Porphyria Panel that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HFE HMBS PPOX
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.
Porphyria variegata Panel
Spain.
By Bioarray
This panel specifically test the PPOX gene.
More info about this panel Spain.
PORPHYRIA VARIEGATA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PPOX gene.
More info about this panel Spain.
Porphyria Variegata , Sequencing PPOX Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PPOX gene.
More info about this panel Spain.
Hepatic Porphyria , Panel Deletions-Duplications (MLPA) ALAD, HMBS, PPOX Panel
Spain.
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 panel Spain.
Porphyria Related Diseases , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
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 panel Spain.
Variegate Porphyria: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PPOX gene.
More info about this panel Canada.
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