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.

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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

SOURCES: OMIM ORPHANET MESH


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

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

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

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

Porphyria variegata (sequence anaçysis of PPOX gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PPOX gene.

More info about this panel

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

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

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

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

PPOX Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute

This panel specifically test the PPOX gene.

More info about this panel

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

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

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

Porphyria variegata Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PPOX gene.

More info about this panel

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

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

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

Porphyria Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center

This panel specifically test the PPOX gene.

More info about this panel

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

PPOX Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the PPOX gene.

More info about this panel

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

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

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

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

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

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

PPOX Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PPOX gene.

More info about this panel

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

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

Porphyria variegata Panel

Spain.

By Bioarray

This panel specifically test the PPOX gene.

More info about this panel

PORPHYRIA VARIEGATA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PPOX gene.

More info about this panel

Porphyria Variegata , Sequencing PPOX Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PPOX gene.

More info about this panel

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

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

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


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