Variegate Porphyria (VP)

Alias:
Porphyria Variegata
Protoporphyrinogen Oxidase Deficiency
Protocoproporphyria
Ppox Deficiency
Vp
Porphyria, South African Type
Porphyria South African Type
Vp - [variegate Porphyria]
Porphyria, Variagated
Porphyria, Variegate
Porphyria Variegate
Pv
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Variegate Porphyria, also known as porphyria variegata, is related to porphyria and photoparoxysmal response 1, and has symptoms including abdominal pain, constipation and vomiting. An important gene associated with Variegate Porphyria is PPOX (Protoporphyrinogen Oxidase), and among its related pathways/superpathways are Metabolism and Hemesynthesis defects and porphyrias. The drugs Afamelanotide and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related phenotypes are abdominal pain and abnormal circulating porphyrin concentration
Related ID:
MESH:D046350
ICD11:1227474618

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
<1/1000000
33
200
64

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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