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.
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
-
Responsible for diagnostic tests - Investigator of research project
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:
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 % |
You can get up to 134 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET MESH Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3 IVIC SYNDROME BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5 2Q23.1 MICRODELETION SYNDROME