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.

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Incidence and onset information

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



Mendelian

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Hereditary Coproporphyria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %

We have 26 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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