CPOX gene related symptoms and diseases
All the information presented here about the CPOX gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CPOX gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Orthostatic hypotension | Very Common - Between 80% and 100% cases |
| Hemolytic anemia | Very Common - Between 80% and 100% cases |
| Metabolic acidosis | Very Common - Between 80% and 100% cases |
| Hypotension | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CPOX gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormal blistering of the skin
- Psychosis
- Cutaneous photosensitivity
- Hypertrichosis
- Thin skin
- Hallucinations
- Hyponatremia
- Hypermelanotic macule
And 45 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CPOX gene
Here you will find a list of rare diseases related to the CPOX. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY COPROPORPHYRIA
Alternate names
HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency, cpx deficiency, coproporphyrinogen oxidase deficiency, cpo deficiency
Description
Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.
Most common symptoms of HEREDITARY COPROPORPHYRIA
- Seizures
- Muscle weakness
- Pain
- Anemia
- Hypertension
More info about HEREDITARY COPROPORPHYRIA
Search interest in CPOX
Potential gene panels for CPOX 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.
CPOX 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 CPOX gene.
More info about this panel United States.
CPOX. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CPOX 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.
Coproporphyria (sequence analysis of CPOX gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CPOX 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.
Hereditary Coproporphyria via CPOX Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CPOX 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.
CPOX Panel
Slovakia.
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the CPOX gene.
More info about this panel Slovakia.
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.
Coproporphyria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CPOX gene.
More info about this panel Germany.
Hereditary Coproporphyria Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the CPOX gene.
More info about this panel Italy.
Hereditary Coproporphyria - CPOX Panel
Sweden.
By Centre for Inherited Metabolic Diseases Karolinska University Hospital
This panel specifically test the CPOX gene.
More info about this panel Sweden.
Porphyria Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the CPOX 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.
Coproporphyria Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the CPOX gene.
More info about this panel Austria.
Coproporphyria Panel
Slovakia.
By MedGene
This panel specifically test the CPOX gene.
More info about this panel Slovakia.
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.
Coproporphyria, Hereditary: CPOX gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CPOX gene.
More info about this panel Spain.
Hereditary coproporphyria: CPOX gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CPOX 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.
CPOX Gene, Full Gene Analysis Panel
United States.
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic
This panel specifically test the CPOX gene.
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.
CPOX Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CPOX 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.
Hereditary coproporphyria Panel
Spain.
By Bioarray
This panel specifically test the CPOX gene.
More info about this panel Spain.
HEREDITARY COPROPORPHYRIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CPOX gene.
More info about this panel Spain.
Hereditary Coproporphyria, Sequencing CPOX Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CPOX gene.
More info about this panel Spain.
Hereditary Coproporphyria, Deletions-Duplications CPOX Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CPOX gene.
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.
Hereditary Coproporphyria: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the CPOX gene.
More info about this panel Canada.
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