 Hereditary Coproporphyria
	Hereditary Coproporphyria
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.
Clinical Features
Top most frequent phenotypes and symptoms related to Hereditary Coproporphyria
- Seizures
- Muscle weakness
- Pain
- Anemia
- Hypertension
- Peripheral neuropathy
- Hepatomegaly
- Vomiting
- Diarrhea
- Behavioral abnormality
And another 48 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Hereditary Coproporphyria Is also known as cpox deficiency, cpx deficiency, coproporphyrinogen oxidase deficiency, cpo deficiency.
Researches and researchers
Doctors, researchs, and experts related to Hereditary Coproporphyria extracted from public data.
Hereditary Coproporphyria Experts map
Current Researchs and researchers
- 
Responsible for diagnostic tests - Investigator of research project MILANO — Dr Elena DI PIERRO MILANO — Dr Elena DI PIERRO
 - 
Institution/s:
 — Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
- 
Research area/topic::Next-generation sequencing to study the penetrance of dominantly inherited porphyrias 
 
- 
Institution/s:
Hereditary Coproporphyria Recommended genes panels
| Panel Name, Specifity and genes Tested/covered | 
|---|
|  MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories (United States). 
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB	, (...)
 View the complete list with 612 more genes 
Specificity
 1 % 
Genes
 100 % | 
|  CPOX Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). 
CPOX
 
Specificity
 100 % 
Genes
 100 % | 
|  CPOX. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). 
CPOX
 
Specificity
 100 % 
Genes
 100 % | 
|  Acute Porphyria (Intermittent, Coproporphyria, Variegate) (sequence analysis of CPOX, PPOX and HMBS genes). By CGC Genetics (Portugal). 
CPOX, HMBS, PPOX
 
Specificity
 34 % 
Genes
 100 % | 
|  Coproporphyria (sequence analysis of CPOX gene). By CGC Genetics (Portugal). 
CPOX
 
Specificity
 100 % 
Genes
 100 % | 
|  Porphyria Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). 
UROD, UROS, CPOX, FECH, ALAD, ALAS2, HMBS, PPOX
 
Specificity
 13 % 
Genes
 100 % | 
|  Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). 
UROD, UROS, CPOX, FECH, ALAS2, PPOX
 
Specificity
 17 % 
Genes
 100 % | 
|  Hereditary Coproporphyria via CPOX Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). 
CPOX
 
Specificity
 100 % 
Genes
 100 % | 
You can get up to 26 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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