Porphyria Variegata

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Porphyria Variegata

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus
  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Peripheral neuropathy

And another 40 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Porphyria Variegata have a estimated incidence of 0.008 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Porphyria Variegata Is also known as variegate porphyria, ppox deficiency, porphyria, south african type, protoporphyrinogen oxidase deficiency, vp.

Researches and researchers

Doctors, researchs, and experts related to Porphyria Variegata extracted from public data.

Porphyria Variegata 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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Porphyria Variegata Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HFE.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

HFE
Specificity
100 %
Genes
50 %
HFE Mutation Panel.

By Baylor Miraca Genetics Laboratories (United States).

HFE
Specificity
100 %
Genes
50 %
Hemochromatosis.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

HFE
Specificity
100 %
Genes
50 %
Hereditary hemochromatosis.

By Center for Human Genetics, Inc (United States).

HFE
Specificity
100 %
Genes
50 %
Hemochromatosis.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

HFE
Specificity
100 %
Genes
50 %
HFE-Associated Hereditary Hemochromatosis.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco (United States).

HFE
Specificity
100 %
Genes
50 %
Hemochromatosis, C282Y with reflex to H63D.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

HFE
Specificity
100 %
Genes
50 %
Hemochromatosis, H63D.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

HFE
Specificity
100 %
Genes
50 %

We have 134 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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