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
-
MILANO — Dr Elena DI PIERRO
Responsible for diagnostic tests - Investigator of research project
-
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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